The DOI matches its Crossref record; 85 of the 85 references it cites were found in a registry or an index; 12 of the 97 sources its claims cite were checked for support.
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Open accessAbstract
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome. The disease is characterized by a striking and unpredictable variation in phenotypic expression. Phenotypes include the rapidly progressive childhood cerebral form (CCALD), the milder adult form, adrenomyeloneuropathy (AMN), and variants without neurologic involvement. There is no apparent correlation between genotype and phenotype. In males, unambiguous diagnosis can be achieved by demonstration of elevated levels of VLCFA in plasma. In 15 to 20% of obligate heterozygotes, however, test results are false-negative. Therefore, mutation analysis is the only reliable method for the identification of heterozygotes. Since most X-ALD kindreds have a unique mutation, a great number of mutations have been identified in the ABCD1 gene in the last seven years. In order to catalog and facilitate the analysis of these mutations, we have established a mutation database for X-ALD ( http://www.x-ald.nl). In this review we report a detailed analysis of all 406 X-ALD mutations currently included in the database. Also, we present 47 novel mutations. In addition, we review the various X-ALD phenotypes, the different diagnostic tools, and the need for extended family screening for the identification of new patients.
Overview
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Written from the paper’s full text.
TL;DR
This review catalogs 406 ABCD1 mutations in X-linked adrenoleukodystrophy as of June 2001, including 47 novel mutations, and synthesizes phenotype, diagnosis, and therapy. It emphasizes marked genotype-phenotype variability, with no clear mutation-phenotype correlation and mutation analysis needed for reliable heterozygote detection.
Key findings
- The X-ALD mutation database contained 406 mutations: 227 (55.9%) missense, 110 (27.1%) frameshift, 37 (9.1%) nonsense, 16 (3.9%) small in-frame indels, and 16 (3.9%) large deletions; 234 (57.6%) were non-recurrent. The paper adds 47 novel unique mutations.
- Mutations clustered in the transmembrane domain (40%), ATP-binding domain (30%), and exon 5 (14%); the 1415delAG hotspot accounted for 10.3% (42/406) of kindreds. ALDP was undetectable in 82.4% (178/216) of cell lines; among 52 unique missense mutations, 58% caused unstable/absent ALDP, 11% strongly reduced levels, and 31% no stability effect.
- No apparent genotype-phenotype correlation was found: 1415delAG occurred across all phenotypes, and a P484R family had five phenotypes in six male patients. Plasma VLCFA testing gave false-negative results in approximately 20% of obligate heterozygotes; mutation analysis was the most reliable method for heterozygote identification.
- Extended family screening of 4,169 at-risk relatives identified 594 additional hemizygotes (250 asymptomatic) and 1,270 heterozygotes; only 1.7% of hemizygotes had de novo mutations. ALDRP overexpression restored VLCFA β-oxidation in X-ALD fibroblasts, and transgenic mice showed 90% correction of VLCFA levels in brain and spinal cord up to eight months old.
Methods
- Review and mutation-database analysis, not a primary cohort study. Data included all 406 ABCD1 mutations in the X-ALD database (www.x-ald.nl) as of June 2001, plus 47 novel mutations from Johns Hopkins/Kennedy Krieger/AMC.
- Descriptive analyses cataloged mutation type, recurrence, exon/domain distribution, and ALDP expression/stability from 216 X-ALD cell lines; the review also synthesized published data on phenotypes, diagnosis, family screening, and therapy.
- Mutation analysis strategy described by Boehm et al. used genomic DNA-based non-nested amplification of all coding exons and flanking intron-exon junctions in 10 amplicons; approximately 70% of mutations were identifiable in four amplicons covering 40% of the coding region.
Limitations
- Stated: no apparent genotype-phenotype correlation and inability to predict clinical course from ABCD1 mutation or VLCFA levels; incidence estimates are minimums due to incomplete ascertainment; heterozygote frequency cannot be determined reliably by surveys; plasma VLCFA gives false negatives in 15–20% of obligate heterozygotes.
- Stated: the physiological function of ALDP remains to be elucidated, and the relation between VLCS and ALDP is still elusive.
- Evident from text: the mutation database is a June 2001 snapshot, so mutation counts and distributions may not reflect later discoveries; the review relies on published and database data rather than a systematic primary study.
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Claims the paper makes
12 of 97 cited sources checked · 9 supported · 0 flagged · accuracy not yet measured
Every source the paper cites for this claim was checked and supports it.
In the paper
“Clinically, X-ALD is characterized by a striking and unpredictable variation in phenotypic expression, with childhood cerebral ALD (CCALD) and adrenomyeloneuropathy (AMN) accounting for approximately 80% of all cases [van Geel et al., 1997].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Supportedcites van Geel et al., 1997 source
The Genetics section reports variation in phenotypic expression even among monozygotic twins and no established genotype–phenotype correlation, supporting the description of variation as unpredictable. The HEMIZYGOTES section states that childhood cerebral ALD and adrenomyeloneuropathy account for about 80% of cases. Page numbers are not supplied in the passages. (LLM, conf=0.92)
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In the paper
“When this genomic sequence strategy is used, approximately 70% of all mutations can be identified in four amplicons which together cover 40% of the coding region.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
What the sources say
- Partly supportedcites Boehm et al., 1999 sourceExperimental — accuracy not yet measured
The Results and Sample Preparation and PCR Amplification sections describe a genomic DNA sequencing strategy using amplicons, with 10 amplifications covering the full coding region. Our copy does not state that four amplicons cover 40% of that region or identify approximately 70% of mutations; searches for those figures found no supporting passage. Page numbers were unavailable. (LLM, conf=0.83)
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Every source the paper cites for this claim was checked and supports it.
In the paper
“Liu et al. [1999] demonstrated that amino acid residues located in the carboxyl-terminal half of ALDP are important for the interaction of ALDP with itself, ALDRP and PMP70.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > GENOTYPEPHENOTYPE
What the sources say
- Supportedcites Liu et al., 1999 source
The Results section reports that mutations at Pro-484 and Arg-591 reduced interaction of the carboxyl-terminal domain of human ALDP with itself and abolished its interactions with mouse ALDRP and human PMP70. This directly supports the claim that residues in that region are important for those interactions. (LLM, conf=0.94)
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In the paper
“For example, two disease-causing missense mutations, P484R and R591Q.inhibited both homodimerization and heterodimerization of ALDP with ALDRP and PMP70 [Liu et al., 1999].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > GENOTYPEPHENOTYPE
What the sources say
- Supportedcites Liu et al., 1999 source
The Results report that P484R and R591Q significantly decreased interaction of the ALDP carboxyl-terminal domain with itself and abolished its interactions with ALDRP and PMP70 in yeast two-hybrid assays. This supports the claim that the mutations inhibited both forms of dimerization; the reported mutation effects were measured on the carboxyl-terminal domains. (LLM, conf=0.92)
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In the paper
“This transporter somehow is involved in the transport of long-chain fatty acyl-CoA esters from the cytoplasm, across the peroxisomal membrane and into the interior of the peroxisome [Verleur et al., 1997;Hettema and Tabak, 2000].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Supportedcites Verleur et al., 1997 source
The Discussion (page not supplied) says Pxa1p and Pxa2p were suggested to transport activated long-chain fatty acids into the peroxisome. It also reports evidence that Pxa2p transports long-chain fatty acyl-CoA esters across the peroxisomal membrane, supporting the citing sentence’s cautious wording. (LLM, conf=0.94)
- Not checked — no full text of the sourcecites Hettema and Tabak, 2000 source
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Every source the paper cites for this claim was checked and supports it.
In the paper
“Transfection studies have shown that expression of ALDP cDNA in X-ALD patient fibroblasts restores VLCFA β-oxidation [Cartier et al., 1995].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Supportedcites Cartier et al., 1995 source
The Results (Fig. 4A) report that ALD patient fibroblasts degraded lignoceric acid at normal rates after receiving the ALDP cDNA–carrying M48-ALD vector. The Discussion identifies lignoceric acid oxidation as peroxisomal β-oxidation and says gene transfer completely normalized it. (LLM, conf=0.94)
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Every source the paper cites for this claim was checked and supports it.
In the paper
“but does not appear to alter the course of neurologic progression in patients who already have neurologic symptoms [van Geel et al., 1999]”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > THERAPY
What the sources say
- Supportedcites van Geel et al., 1999 source
The Discussion reports that disability increased significantly among the 16 patients who already had neurological symptoms despite Lorenzo’s oil treatment. It concludes that the available data suggest the oil is not efficacious in adults with X-ALD and neurological symptoms, matching the claim’s cautious wording. (LLM, conf=0.93)
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In the paper
“Various forms of immunosuppressive therapy have been tested, so far without success [Stumpf et al., 1981;Naidu et al., 1988;Cappa et al., 1994;Korenke et al., 1997;Moser et al., 2001].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > THERAPY
What the sources say
- Not checked — no full text of the sourcecites Stumpf et al., 1981 source
- Not checked — no full text of the sourcecites Naidu et al., 1988 source
- Partly supportedcites Cappa et al., 1994 sourceExperimental — accuracy not yet measured
The Abstract and Discussion report that intravenous immunoglobulin immunomodulation did not arrest X-ALD progression or produce clinical improvement. This supports the unsuccessful-treatment point, but the paper describes its treatment as immunomodulation, not immunosuppression, and tests only one such treatment. (LLM, conf=0.83)
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesEvery source the paper cites for this claim was checked and supports it.
In the paper
“Mutation analysis is the most reliable method for the identification of heterozygotes, provided that the mutation in the family has been defined in an affected male or obligate heterozygote relative [Boehm et al., 1999].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > LABORATORY DIAGNOSIS
What the sources say
- Supportedcites Boehm et al., 1999 source
The Discussion says mutational analysis can identify women heterozygous for X-ALD with virtually complete accuracy, but that the family mutation must first be found by screening an affected male or obligate carrier. The Discussion also explains why biochemical testing cannot exclude carrier status in all women, supporting the comparison of reliability. (LLM, conf=0.94)
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In the paper
“There is no apparent correlation between genotype and phenotype.”
- Also stated in: § GENOTYPEPHENOTYPE · plain
“With respect to mutations that result in the absence of protein, no correlation has been found between mutations in the ABCD1 gene and disease severity.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > Abstract
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- Probably not a substantial claim. 38
- It may state two separate claims as one. 42
Every source the paper cites for this claim was checked and supports it.
In the paper
“Clinically, X-ALD is characterized by a striking and unpredictable variation in phenotypic expression, with childhood cerebral ALD (CCALD) and adrenomyeloneuropathy (AMN) accounting for approximately 80% of all cases [van Geel et al., 1997].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Supportedcites van Geel et al., 1997 source
The clinical-characteristics table in the Adrenomyeloneuropathy section lists CCALD at 31–57% and AMN at 25–46% of X-ALD phenotypes in hemizygotes. Their combined midpoint is about 80%, consistent with the citing sentence’s approximate figure, although the reported frequencies vary. (LLM, conf=0.85)
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“In the yeast Saccharomyces cerevisiae the two orthologs of ALDP, Pxa1p, and Pxa2p, heterodimerize to form a functional ABC transporter [Shani and Valle, 1996].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Partly supportedcites Shani and Valle, 1996 sourceExperimental — accuracy not yet measured
The paper’s opening text says Pxa1p and Pxa2p heterodimerize to form a yeast peroxisomal ABC transporter involved in fatty-acid β-oxidation. But the Discussion identifies Pxa1p as a putative ortholog of ALDP and suggests Pxa2p may instead be the yeast ortholog of PMP70. It does not support calling both proteins orthologs of ALDP. (LLM, conf=0.91)
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Partly supported
The sources with a verdict support this claim; the rest weren’t checked yet, have no full text we could read, or their verdicts aren’t rated yet.
In the paper
“In vitro, homodimerization, and heterodimerization of the carboxyl-terminal halves of ALDP, ALDRP, and PMP70 have been demonstrated using co-immunoprecipitation assays and the yeast two-hybrid system [Smith et al., 1999;Liu et al., 1999].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Smith et al., 1999 source
- Supportedcites Liu et al., 1999 source
The Abstract states that yeast two-hybrid assays showed homo- and heterodimerization of the carboxyl-terminal halves of ALDP, ALDRP, and PMP70, and that co-immunoprecipitation confirmed those processes. The Discussion likewise reports dimerization of the carboxyl-terminal halves in the yeast two-hybrid system. (LLM, conf=0.94)
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“There is no correlation between adrenal involvement and the type of neurologic involvement or the rate of neurologic progression.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
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In the paper
“As of June 2001, the X-ALD mutation database contained 406 mutations, which have been identified by various groups”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“In the Kennedy Krieger Institute series the earliest age at which neurologic involvement became manifest (a seizure) was in a boy of two and a half years.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
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In the paper
“Approximately 65% of male X-ALD patients remain free of neurologic symptoms by 10 years of age, but nearly all develop neurologic symptoms in adulthood (Fig. 1).”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
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In the paper
“As shown in Table 1, the cerebral forms occur most frequently in children, and AMN in adults.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
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In the paper
“The majority of visits were from the United States and Canada (79%), 12% came from Europe, 5% from Asia, 2% from both Australia and Latin America, and 0.5% from Africa.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATION DATABASE FOR X-ALD
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In the paper
“At this time there is no evidence for major differences in the frequency of X-ALD in specific ethnic groups.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INCIDENCE OF X-ALD
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In the paper
“There is a clustering of mutations in the transmembrane domain (40%), in the ATP-binding domain (30%), and in exon 5 (14%).The remaining 16% of mutations are spread throughout the gene.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“Motifs known to be associated with short deletion or insertion mutations have not been identified in the region flanking this mutation.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“Amplicons exon1b and exon1c each harbor 20% of mutations, amplicon 8/9 covers 14%, and 13% of mutations can be identified in amplicon 5.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“Of all X-ALD mutations, 227 (55.9%) are missense, 110 (27.1%) are frame shift, 37 (9.1%) are nonsense, 16 (3.9%)are small in-frame amino acid insertions or deletions, and 16 (3.9%)are large deletions of one or more exons.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“No promoter mutations or complete gene deletions have been reported.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“The 216 informative cell lines represent 78 non-recurrent mutations.Sixty two of these (79.5%) result in absence of detectable protein levels.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > GENOTYPEPHENOTYPE
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In the paper
“For example, a family has been identified in The Netherlands with a missense mutation, R389H, and normal levels of ALDP.All heterozygotes in this kindred are asymptomatic, and all male patients are either asymptomatic at old age or show mild phenotypes including gonadal insufficiency and AMN without cerebral involvement.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > GENOTYPEPHENOTYPE
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In the paper
“In some exons (1a, 2, 4, 5, and 10) fewer than expected have been identified, while in other exons (1b, 1c, 6, 7, 8, and 9) more than expected missense mutations were found.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“Single base pair substitutions or point mutations represent the majority (69.1%) of mutations.The remaining 30.9% are deletions or insertions of one or more nucleotides.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
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In the paper
“A total of 227 missense mutations have been reported in the ABCD1 gene.Expression data is available on 137 missense mutations, which represent 52 unique missense mutations.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > GENOTYPEPHENOTYPE
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In the paper
“Only 31% of all non-recurrent missense mutations did not affect the stability of ALDP, 11% resulted in strongly reduced expression levels, and 58% resulted in unstable and absent levels of ALDP.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > GENOTYPEPHENOTYPE
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In the paper
“No disease has been associated yet with mutations in the ABCD2 gene.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✗ Based: failsProbably not a substantial claim. The paper’s conclusions may not depend on it. The paper may give no reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“This is supported by the observation that 84 of the 91 (92%) identified disease causing unique missense mutations in ALDP affect amino acid residues that are identical between ALDP and ALDRP, whereas only 61 are expected to be found on the basis of the 66% sequence identity.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
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In the paper
“Screening of 4,169 at-risk family members led to the identification of 594 additional X-ALD hemizygotes, 250 of whom were asymptomatic, and of 1,270 heterozygotes.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > EXTENDED FAMILY SCREENING
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In the paper
“neurologic deficits almost never develop before three years of age and in most instances considerably later (Fig. 1)”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > EXTENDED FAMILY SCREENING
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes? Based: unclearIt may state two separate claims as one.
A claim is checked only against the cited paper’s full text, never its abstract, and none is available for its sources.
In the paper
“Approximately 50% of women heterozygous for X-ALD develop AMN-like symptoms in middle age or later.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“Seventy percent of male X-ALD patients have primary adrenocortical insufficiency (Addison's disease) [van Geel et al., 2001].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Not checked — no full text of the sourcecites van Geel et al., 2001 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“This gene encodes a peroxisomal ATP-binding cassette transporter, the ALD protein (ALDP), and not VLCS [Mosser et al., 1993].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Not checked — no full text of the sourcecites Mosser et al., 1993 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“A study by van Geel et al. [2001], showed that at least 20% of patients with AMN will develop cerebral involvement at a later age, which may have the same rapidly progressive course as in CCALD.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Not checked — no full text of the sourcecites van Geel et al., 2001 source
Strength:hedged· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“AMN is the most common X-ALD phenotype [van Geel et al., 1994].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Not checked — no full text of the sourcecites van Geel et al., 1994 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“X-linked adrenoleukodystrophy (X-ALD: MIM# 300100) is the most common peroxisomal disorder with a minimum incidence of 1:21,000 males [Bezman et al., 2001].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Not checked — no full text of the sourcecites Bezman et al., 2001 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“X-linked adrenoleukodystrophy (X-ALD: MIM# 300100) is the most common peroxisomal disorder with a minimum incidence of 1:21,000 males [Bezman et al., 2001].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
- Not checked — no full text of the sourcecites Bezman et al., 2001 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The predicted ALDP lacks the ATP-binding domain and is both unstable and inactive.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“Smith and coworkers [1999] demonstrated that X-ALD fibroblasts transfected with a cDNA construct encoding an ALDP deletion mutant that lacks amino acids 693 to 745 (ALDPdel693-745) had similar β-oxidation activity as X-ALD fibroblasts transfected with a wild type ALDP cDNA construct.In addition, the deletion of the 52 carboxyl-terminal amino acids did not affect the stability of the protein.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
What the sources say
- Not checked — no full text of the sourcecites Smith et al., 1999 source
Load-bearingStrength:boosted· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“The gene is approximately 19 kb long, contains 10 exons and encodes a protein of 745 amino acids.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > THE X-ALD (ABCD1) GENE
What the sources say
- Not checked — no full text of the sourcecites Mosser et al., 1993 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Asymptomatic patients and those with the AMN or “Addison-only” phenotype continue to be under-diagnosed.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INCIDENCE OF X-ALD
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✗ Based: failsProbably not a substantial claim. The paper’s conclusions may not depend on it. The paper may give no reason why it holds. It may state two separate claims as one.
In the paper
“The X-ALD gene (ABCD1), identified by positional cloning strategies, is located on Xq28 [Mosser et al., 1993].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > THE X-ALD (ABCD1) GENE
What the sources say
- Not checked — no full text of the sourcecites Mosser et al., 1993 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A claim is checked only against the cited paper’s full text, never its abstract, and none is available for its sources.
In the paper
“Cerebral involvement and adrenocortical insufficiency are rare [Moser, 1997;Restuccia et al., 1997;el Deiry et al., 1997].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“The fourth polymorphism is present at cDNA position 2246, eight nucleotides downstream of the stop codon (2246C/G) [Kemp et al., 1994].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > POLYMORPHISMS IN THE ABCD1 GENE
What the sources say
- Not checked — no full text of the sourcecites Kemp et al., 1994 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The frequency of women heterozygous for X-ALD cannot be determined reliably by surveys because most affected women remain asymptomatic until middle age, and those who are symptomatic often remain undiagnosed unless they have a symptomatic affected male relative.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INCIDENCE OF X-ALD
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Therefore, this region of the protein does not appear to be important for protein stability or normal VLCFA β-oxidation.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
Load-bearingStrength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“In earlier reports from The Netherlands, Australia, and Spain [Bezman and Moser, 1998], an incidence of approximately 1:100,000 was reported.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INCIDENCE OF X-ALD
What the sources say
- Not checked — no full text of the sourcecites Bezman and Moser, 1998 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The discrepancy between the two incidence numbers is not understood, but is probably due to incomplete ascertainment.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INCIDENCE OF X-ALD
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
In the paper
“The most recent value from France, where the referral network has been centralized to an increasing extent, is 1:15,000 (P.Aubourg, personal communication), and may be the most accurate value available so far.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INCIDENCE OF X-ALD
What the sources say
- Not matchedcites P.Aubourg, personal communication
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
- Not matched
In the paper
“A similar frequency (1:20,000) was reported in France [Dubois-Dalcq et al., 1999].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INCIDENCE OF X-ALD
What the sources say
- Not checked — no full text of the sourcecites Dubois-Dalcq et al., 1999 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A claim is checked only against the cited paper’s full text, never its abstract, and none is available for its sources.
In the paper
“However, reports of varying phenotypes in identical twins suggest that environmental factors may be involved [Sobue et al., 1994;Korenke et al., 1996].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > INTRODUCTION
What the sources say
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A claim is checked only against the cited paper’s full text, never its abstract, and none is available for its sources.
In the paper
“This mutation involves the deletion of two nucleotides (AG) at cDNA position 1415-16.This results in a frame shift at amino acid residue Glu471 (fs E471) and a premature stop codon at position 554.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > MUTATIONS IN THE ABCD1 GENE
What the sources say
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“ALDP with one membrane spanning region and one ATP-binding domain has the structure of an ABC half-transporter.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
None of the sources cited for this claim have been checked yet.
In the paper
“The nucleotide binding fold of ALDP is located toward the cytoplasmic surface of the peroxisomal membrane [Mosser et al., 1994;Watkins et al., 1995].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Mosser et al., 1994 source
- Not matchedcites Watkins et al., 1995
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“The protein is encoded by the ABCD2 gene, which is located on chromosome 12q11.12[Savary et al., 1997].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
What the sources say
- Not checked — no full text of the sourcecites Savary et al., 1997 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
In the paper
“In the fruit fly Drosophila melanogaster, the uptake of metabolic precursors that are necessary for the synthesis of the brown and red eye pigments in pigment cells is controlled by the presence of different heterodimer combinations of ABC half-transporters in the cell membrane of these cells.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Ewart et al., 1994 source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“ALDRP shares 66% identity and 88% homology with ALDP.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The disease-causing effect of at least some of these missense mutations may be due to inhibition of dimer formation, and this is likely to affect protein stability.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > GENOTYPEPHENOTYPE
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A claim is checked only against the cited paper’s full text, never its abstract, and none is available for its sources.
In the paper
“Overexpression of ALDRP cDNA in human and mouse X-ALD fibroblasts completely restores VLCFA β-oxidation and results in normal levels of VLCFAs [Kemp et al., 1998;Netik et al., 1999].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
What the sources say
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“Red color pigment precursors are imported by the guanine transporter that contains heterodimers of subunits encoded by the white and brown genes.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Ewart et al., 1994 source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“Proteins from the white and scarlet genes heterodimerize to form the tryptophan transporter, involved in the import of metabolites for the synthesis of brown color pigments [Ewart et al., 1994].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Ewart et al., 1994 source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“In brain, ALDP is expressed predominantly in glial cells, while ALDRP is primarily expressed in neurons.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“For two missense mutations located in functional regions of the ATP-binding domain it was demonstrated that the mutations resulted in either decreased ATPbinding capacity (S606L) or reduced ATPase activity (G512S) [Roerig et al., 2001].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Roerig et al., 2001 source
Strength:boosted· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“It was demonstrated recently that the nucleotide-binding fold of ALDP acts as an ATP-binding subunit with ATPase activity [Roerig et al., 2001].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Roerig et al., 2001 source
Strength:boosted· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“The two other members of the peroxisomal ABC half-transporter sub-family, PMP70, and PMP69/P70R, are more distantly related; they share 38% and 27% identity, respectively.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Of the three peroxisomal ALDP homologs that have been identified, ALDRP is most closely related and of greatest interest with respect to X-ALD.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > ALDR PROTEIN: FUNCTIONAL REDUNDANCY AND PHENOTYPIC RESCUE
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“ALDP belongs to the superfamily of ABC transmembrane transporter proteins [Mosser et al., 1993].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Mosser et al., 1993 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
None of the sources cited for this claim have been checked yet.
In the paper
“Three additional mammalian peroxisomal ABC half-transporters closely related by nucleic acid and protein sequence have been identified: ALDRP, an ALDP-related protein [Lombard-Platet et al., 1996;Holzinger et al., 1997a]; PMP70, a 70-kDa peroxisome membrane protein [Kamijo et al., 1990;Gartner et al., 1992]; and PMP69 (or P70R), a 69-kDa peroxisome membrane protein [Shani et al., 1997;Holzinger et”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“Over-expression of VLCS alone in human X-ALD fibroblasts does not improve VLCFA β-oxidation, while coexpression of both VLCS and ALDP in X-ALD fibroblasts increased VLCFA β-oxidation synergistically [Steinberg et al., 1999].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Steinberg et al., 1999 source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“Functional eukaryotic ABC transporters contain two homologous halves, each with a transmembrane domain (TMD) and an ATPbinding domain (ATP) [Higgins, 1992].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > FUNCTION OF ALDP
What the sources say
- Not checked — no full text of the sourcecites Higgins, 1992 source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“Increased VLCFA levels occur also in patients with other peroxisomal disorders, such as the disorders of peroxisome biogenesis and patients with other defects of peroxisomal β-oxidation, but these can be distinguished on the basis of clinical manifestations and additional laboratory analyses using a laboratory flow chart as described by Wanders and associates [Wanders et al., 2001].”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > LABORATORY DIAGNOSIS
What the sources say
- Not matchedcites Wanders et al., 2001
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- Not matched
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“These considerations, combined with a relatively high incidence, make X-ALD a candidate for neonatal mass screening in males.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > EXTENDED FAMILY SCREENING
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Thus, extended family screening can lead to the identification of males at a time when therapy has the greatest chance of being successful, and the identification of heterozygotes can aid disease prevention through genetic counseling.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > EXTENDED FAMILY SCREENING
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Neonatal screening for X-ALD in males would be of value since it would permit early identification of adrenocortical insufficiency and cerebral involvement, and consequently would facilitate therapeutic intervention.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > EXTENDED FAMILY SCREENING
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim. It may state two separate claims as one.
In the paper
“Gonadal mosaicism has been reported in Xlinked disorders [Bowling et al., 1999]”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > EXTENDED FAMILY SCREENING
What the sources say
- Not checked yetcites Bowling et al., 1999
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“and theoretically can occur in mothers without a mutation in the ABCD1 gene who have children with X-ALD.”
§ ABCD1 Mutations and the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations > EXTENDED FAMILY SCREENING
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
The paper relies on this without support.
In 15 to 20% of obligate X-ALD heterozygotes, plasma VLCFA test results are false-negative.
“In 15 to 20% of obligate heterozygotes, however, test results are false-negative.”
The authors state this as an assumption.
For calculating the ratio of female heterozygotes to hemizygous males, 37% of X-ALD hemizygotes fail to reach reproductive age and the reproductive fitness of heterozygotes is unimpaired.
“Assuming that 37% of X-ALD hemizygotes (Fig. 1: the proportion who have the childhood cerebral phenotype [Bezman and Moser, 1998]) fail to reach reproductive age and that the reproductive fitness of heterozygotes is unimpaired”
The paper relies on this without support.
In approximately 80% of patients with the childhood cerebral phenotype, MRI shows symmetrical demyelination in the parieto-occipital region, with contrast enhancement at the margin of the lesion.
“In approximately 80% of patients with the childhood cerebral phenotype, MRI shows symmetrical demyelination in the parieto-occipital region, with contrast enhancement at the margin of the lesion.”
The paper relies on this without support.
In approximately 15% of patients with the childhood cerebral phenotype, the initial lesion involves the frontal lobes.
“In approximately 15% of these patients, the initial lesion involves the frontal lobes.”
The paper relies on this without support.
Adrenal steroid replacement therapy corrects the adrenocortical insufficiency present in approximately 70% of male X-ALD patients.
“Adrenal steroid replacement therapy corrects the adrenocortical insufficiency present in approximately 70% of male X-ALD patients.”
The paper relies on this without support.
Approximately 75% of men with adult phenotypes of X-ALD show clinical or subclinical gonadal dysfunction.
“Approximately 75% of men with adult phenotypes of X-ALD show clinical or subclinical gonadal dysfunction.”
The paper relies on this without support.
BMT can delay or halt the inflammation that causes cerebral demyelination.
“BMT can delay or halt the inflammation that causes cerebral demyelination.”
The paper relies on this without support.
Test results of plasma VLCFA analysis are abnormal already on the day of birth.
“Test results are abnormal already on the day of birth.”
The paper relies on this without support.
The diagnosis of X-ALD in heterozygous women who do not have a known affected male relative is achieved only rarely.
“The diagnosis of X-ALD in heterozygous women who do not have a known affected male relative is achieved only rarely and continues to represent a challenge.”
The paper relies on this without support.
The most common clinical manifestation of X-ALD in heterozygous women is slowly progressive paraparesis.
“The most common clinical manifestation is slowly progressive paraparesis, which may be difficult to differentiate from other conditions that can cause this, such as multiple sclerosis.”
The paper relies on this without support.
Plasma VLCFA analysis is the most frequently used diagnostic test for X-ALD.
“The plasma VLCFA analysis is the most frequently used diagnostic test for X-ALD.”
The paper relies on this without support.
X-ALD is a serious and progressive disease.
“X-ALD is a serious and progressive disease”
The paper relies on this without support.
Neonatal screening for X-ALD is not yet feasible for technical reasons.
“However, this approach is not yet feasible for technical reasons, several laboratories are exploring how neonatal screening can be accomplished.”
The paper relies on this without support.
The mechanism by which BMT benefits X-ALD patients has not yet been defined.
“The mechanism by which BMT benefits X-ALD patients has not yet been defined.”
The paper relies on this without support.
At this time benefit of BMT has been observed only in patients who had cerebral involvement.
“At this time benefit has been observed only in patients who had cerebral involvement.”
The paper relies on this without support.
The impaired erectile function in AMN patients appears in most instances to be related to spinal cord involvement rather than endocrine insufficiency.
“The impaired erectile function, which often occurs in AMN patients, appears in most instances to be related to spinal cord involvement rather than endocrine insufficiency.”
The paper relies on this without support.
Gonadal mosaicism in X-ALD has never been reported and was never studied systematically.
“Thus far it has never been reported, but on the other hand, it was never studied systematically.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“This striking absence of phenotype -genotype correlations suggests the existence of modifier genes, modifying environmental conditions and/or stochastic factors.”
From Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy (2004) · cites this paper as [13]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Pathogenic variants in the ABCD1 gene clustered most often in the transmembrane domain (40%, exons 1 and 2), followed by the ATP-binding domain (30%, exons 6–9), and exon 5 (14%).”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [16]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The first iteration of the ALD Mutation Database [16] reported four polymorphisms and 406 total mutations.”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [16]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The order of (likely) pathogenic variant frequency, overall nonrandom clustering of disease-causing variants in exons 1–2 (transmembrane domain) and exons 6–9 (ATP-binding domain), and the most commonly reported pathogenic variant p.Gln472Argfs*83 on exon 5 are consistent with the initial reports of the mutation database [16].”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [16]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Analysis of missense pathogenic variants revealed a non-random distribution across the gene. Missense mutations were found at higher-than-expected frequency in exon 1 (amino acids 100–300), which code for four segments of the transmembrane domain, and at higher-than-expected frequency in exons 6–9 (amino acids 497–664), which code for the ATP-binding domain.”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [16]
Experimental — accuracy not yet measured
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“During the follow-up of a patient’s brother with elevated VLCFAs or a child found positive at neonatal screening, MRI is able to detect early demyelinating lesions generally localized in the splenium of the corpus callosum (a region with a very high density of OLs), which progress to involve the adjacent parieto-occipital white matter [14,31,90,91,92].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [92]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Some ABCD1 mutations lead to stable and correctly localized proteins but without transporter activity.75”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [75]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“However, the various forms of the disease may occur associated to the same mutation, even within the same family (13,14).”
From Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy (2004) · cites this paper as [13]
The cited source says what the claim attributes to it.
In the citing paper
“Missense mutations constituted the most frequent pathogenic variants (55.9%), followed by frame shift (27.1%), nonsense (9.1%), small amino acid insertions/deletions (3.9%), and large deletions (3.9%).”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [16]
The cited source says what the claim attributes to it.
In the citing paper
“Of the 406, 234 (58%) were non-recurrent and 47 were previously unpublished novel pathogenic variants.”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [16]
In the citing paper
“For example, a Dutch kindred has been described in which all heterozygous females are asymptomatic and all X-ALD males are either still asymptomatic at old age or show mild phenotypes including gonadal insufficiency and AMN without cerebral involvement [64].”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [64]
In the citing paper
“The affected members of this kindred carry a missense mutation p.Arg389His that results in stable ALDP correctly localized to peroxisomes.”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [64]
In the citing paper
“Based on mutational analysis of the ABCD1 gene in X-ALD patients, 587 different mutations have been described up to now [64] (http:// www.x-ald.nl).”
From X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects (2012) · cites this paper as [64]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
C-terminal deletion is described as both 53 and 52 amino acids
MinorA deletion spanning amino acids 693 through 745 includes 53 amino acids, not the stated 52.
“an ALDP deletion mutant that lacks amino acids 693 to 745 (ALDPdel693-745)”
“the deletion of the 52 carboxyl-terminal amino acids did not affect the stability of the protein.”
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Metadata
- Authors
- Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Institut de génétique et de biologie moléculaire et cellulaire (FR)
- Johns Hopkins University (US)
- Kennedy Krieger Institute (US)
- Corresponding author
- Kemp, Stephan
- ORCID
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2001
- Volume
- 18
- Issue
- 6
- Pages
- 499-515
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2134676206
- Cited by
- 321
- References
- 83
- Citations by year
- 2026: 17 · 2025: 14 · 2024: 16 · 2023: 11 · 2022: 22 · 2021: 14 · 2020: 10 · 2019: 14 · 2018: 9 · 2017: 13 · 2016: 13 · 2015: 10 · 2014: 16 · 2013: 14 · 2012: 15
- FWCI
- 0.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- U.S. Public Health Service
- National Center for Research Resources (RR 000 52)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, ABCD1 gene, ABCD1 mutations, mutation database, very long chain fatty acids, genotype-phenotype correlation, childhood cerebral adrenoleukodystrophy, adrenomyeloneuropathy, heterozygote identification, diagnostic testing
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Genotype, Humans, Mutation, Phenotype, ATP-Binding Cassette Transporters, Databases, Nucleic Acid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
A language model drew the claims from the paper on 2026-10-20, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).
A second model labelled each claim on 2026-10-20 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).
Cited sources are checked with a language model’s help (gpt-6-sol).
Statistics and arithmetic are recomputed, not judged.
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