Cited by 321Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchHereditary Neurological Disorders

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

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Kemp, Stephan, Pujol, Aurora, Waterham, Hans R., van Geel, Bj�rn M., Boehm, Corinne D., Raymond, Gerald V., Cutting, Garry R., Wanders, Ronald J.A., Moser, Hugo W.·2001·Human Mutation

DOI 10.1002/humu.1227

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Abstract

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.

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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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Integrity signals

Registry

Crossref · 10.1002/humu.1227

Cites

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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
- Supported
  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)
  cites van Geel et al., 1997 source
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The cited sources support only part of this claim — read each source’s verdict below.
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 supported
  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)
  cites Boehm et al., 1999 sourceExperimental — accuracy not yet measured
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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
- Supported
  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)
  cites Liu et al., 1999 source
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Every source the paper cites for this claim was checked and supports it.
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
- Supported
  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)
  cites Liu et al., 1999 source
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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
“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
- Supported
  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)
  cites Verleur et al., 1997 source
- Not checked — no full text of the sourcecites Hettema and Tabak, 2000 source
Strength:hedged· not yet calibratedCausal:direct· not yet calibrated
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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
- Supported
  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)
  cites Cartier et al., 1995 source
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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
- Supported
  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)
  cites van Geel et al., 1999 source
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The cited sources support only part of this claim — read each source’s verdict below.
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 supported
  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)
  cites Cappa et al., 1994 sourceExperimental — accuracy not yet measured
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Every 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
- Supported
  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)
  cites Boehm et al., 1999 source
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None of the sources cited for this claim have been checked yet.
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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Show all 74 claims

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
- Supported
  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)
  cites van Geel et al., 1997 source
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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 supported
  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)
  cites Shani and Valle, 1996 sourceExperimental — accuracy not yet measured
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
- Supported
  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)
  cites Liu et al., 1999 source
Strength:boosted· not yet calibratedCausal:correlational· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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
“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
- Not checked — no full text of the sourcecites Moser, 1997 source
- Not checked — no full text of the sourcecites Restuccia et al., 1997 source
- Not checked — no full text of the sourcecites el Deiry et al., 1997 source
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Probably 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
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Probably 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
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It 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes
It 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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 calibrated
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Probably 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 calibrated
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
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It 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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
- Not checked — no full text of the sourcecites Moser, 1997 source
- Not checked — no full text of the sourcecites Restuccia et al., 1997 source
- Not checked — no full text of the sourcecites el Deiry et al., 1997 source
Strength:plain· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes
It 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
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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 matched
  Couldn’t be matched to a paper in Crossref, so it can’t be checked.
  cites P.Aubourg, personal communication
Strength:hedged· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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
- Not checked — no full text of the sourcecites Sobue et al., 1994 source
- Not checked — no full text of the sourcecites Korenke et al., 1996 source
Strength:hedged· not yet calibratedCausal:conditional· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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
- Not checked — no full text of the sourcecites Kemp et al., 1994 source
- Not checked — no full text of the sourcecites Kok et al., 1995 source
Strength:plain· not yet calibratedCausal:direct· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes
It may state two separate claims as one.
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 matched
  Couldn’t be matched to a paper in Crossref, so it can’t be checked.
  cites Watkins et al., 1995
Strength:plain· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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
“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
- Not checked — no full text of the sourcecites Kemp et al., 1998 source
- Not checked — no full text of the sourcecites Netik et al., 1999 source
Load-bearingStrength:plain· not yet calibratedCausal:direct· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes
It 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably not a substantial claim. The paper’s conclusions may not depend on it. It 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes
It 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably not a substantial claim. The paper’s conclusions may not depend on it.
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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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
- Not checked — no full text of the sourcecites Lombard-Platet et al., 1996 source
- Not matched
  Couldn’t be matched to a paper in Crossref, so it can’t be checked.
  cites Holzinger et al., 1997a
- Not checked — no full text of the sourcecites Kamijo et al., 1990 source
Strength:plain· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes
It 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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably 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 matched
  Couldn’t be matched to a paper in Crossref, so it can’t be checked.
  cites Wanders et al., 2001
Strength:plain· not yet calibratedCausal:correlational· not yet calibrated
Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes
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 calibrated
Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passes
Probably not a substantial claim. The paper’s conclusions may not depend on it.

71 of 71

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.”

17 of 17

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?

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
Minor
A deletion spanning amino acids 693 through 745 includes 53 amino acids, not the stated 52.

1 of 1

The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
ABC Transporters: From Microorganisms to Man
Higgins, C. F. (1992) · Annual Review of Cell Biology · doi:10.1146/annurev.cb.08.110192.000435 · Cited by 3,985
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202
Self-citation
X-linked adrenoleukodystrophy
Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663
Self-citation
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy
Moser, H. (1997) · Brain · doi:10.1093/brain/120.8.1485 · Cited by 478
Self-citation
Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases
Schaumburg, H. H. (1975) · Archives of Neurology · doi:10.1001/archneur.1975.00490510033001 · Cited by 475
Mathematical and Statistical Methods for Genetic Analysis
Lange, K. L. (2002) · Statistics in the health sciences · doi:10.1007/978-0-387-21750-5 · Cited by 463
Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex
Kelly, A. P., Powis, S. H., Kerr, L. A., Mockridge, I., Elliott, T. J., Bastin, J. M., Uchańska‐Ziegler, B., Ziegler, A., Trowsdale, J., & Townsend, A. (1992) · Nature · doi:10.1038/355641a0 · Cited by 405
The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily.
Kamijo, K., Taketani, S., Yokota, S., Osumi, T., & Hashimoto, T. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)39595-x · Cited by 391
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy
Shapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329
Self-citation
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101 · Cited by 324
Self-citation
The ABC transporter proteins Pat1 and Pat2 are required for import of long‐chain fatty acids into peroxisomes of Saccharomyces cerevisiae.
Hettema, E. H., van Roermund, C. W., Distel, B., van den Berg, M., Vilela, C., Rodrigues‐Pousada, C., Wanders, R. J., & Tabak, H. F. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00755.x · Cited by 323
Self-citation
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
Mosser, J., Lutz, Y., Stoeckel, M. E., Sarde, C. O., Kretz, C., Douar, A. M., Lopez, J., Aubourg, P., & Mandel, J. L. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.265 · Cited by 281
The Inflammatory Myelinopathy of Adreno-Leukodystrophy: Cells, Effector Molecules, and Pathogenetic Implications
POWERS, J. M., LIU, Y., MOSER, A. B., & MOSER, H. W. (1992) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199211000-00007 · Cited by 265
Self-citation
Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
Kemp, S., Wei, H.-M., Lu, J.-F., Braiterman, L. T., McGuinness, M. C., Moser, A. B., Watkins, P. A., & Smith, K. D. (1998) · Nature Medicine · doi:10.1038/3242 · Cited by 249
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Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Watkins, P. A., Smith, K. D., KASS, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101.abs · Cited by 237
Self-citation
Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes
Singh, I., Moser, A. E., Moser, H. W., & Kishimoto, Y. (1984) · Pediatric Research · doi:10.1203/00006450-198403000-00016 · Cited by 234
Self-citation
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
Gärtner, J., Moser, H. W., & Valle, D. L. (1992) · Nature Genetics · doi:10.1038/ng0492-16 · Cited by 228
Self-citation
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.
Lombard-Platet, G., Savary, S., Sarde, C. O., Mandel, J. L., & Chimini, G. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.3.1265 · Cited by 222
Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.
Lazo, O., Contreras, M., Hashmi, M., Stanley, W. S., Irazú, C. E., & Singh, I. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7647 · Cited by 219
X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients
Moser, H. W., Loes, D. J., Melhem, E. R., Raymond, G. V., Bezman, L., Cox, C. S., & Lu, S.-E. (2000) · Neuropediatrics · doi:10.1055/s-2000-9236 · Cited by 210
Self-citation
Dietary erucic acid therapy for X‐linked adrenoleukodystrophy
Rizzo, W. B., Leshner, R. T., Odone, A., Dammann, A. L., Craft, D. A., Jensen, M. E., Jennings, S. S., Davis, S., Jaitly, R., & Sgro, J. A. (1989) · Neurology · doi:10.1212/wnl.39.11.1415 · Cited by 207
Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.2.89 · Cited by 204
Self-citation
X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J.-F., Wei, H.-M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., & Watkins, P. A. (1999) · Neurochemical Research · doi:10.1023/a:1022535930009 · Cited by 190
Self-citation
Mutational analysis of the traffic ATPase (ABC) transporters involved in uptake of eye pigment precursors in Drosophila melanogaster. Implications for structure-function relationships.
Ewart, G. D., Cannell, D., Cox, G. B., & Howells, A. J. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)34070-x · Cited by 173
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
van Geel, B. M., Assies, J., Wanders, R. J. A., & Barth, P. G. (1997) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.63.1.4 · Cited by 162
Self-citation
Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids
Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Schutgens, R. B. H., van den BOSCH, H., Schram, A. W., & Tager, J. M. (1988) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(88)81140-9 · Cited by 157
Self-citation
A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters.
Shani, N., & Valle, D. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.21.11901 · Cited by 157
Adrenoleukodystrophy-Related Protein Can Compensate Functionally for Adrenoleukodystrophy Protein Deficiency (X-ALD): Implications for Therapy
Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., & Berger, J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.907 · Cited by 148
Mathematical and Statistical Methods for Genetic Analysis
Lange, K. L. (1997) · Statistics in the health sciences · doi:10.1007/978-1-4757-2739-5 · Cited by 148
Homo- and Heterodimerization of Peroxisomal ATP-binding Cassette Half-transporters
Liu, L. X., Janvier, K., Berteaux-Lecellier, V., Cartier, N., Benarous, R., & Aubourg, P. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.46.32738 · Cited by 141
Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"
van Geel, B. M., Assies, J., Haverkort, E. B., Koelman, J. H. T. M., Verbeeten, B., Wanders, R. J. A., & Barth, P. G. (1999) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.67.3.290 · Cited by 131
Self-citation
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
(1995) · Europe PMC (PubMed Central) · Cited by 130
Self-citation
PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene.
Shani, N., Watkins, P. A., & Valle, D. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.13.6012 · Cited by 129
Altered expression of ALDP in X-linked adrenoleukodystrophy.
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Self-citation
Transport of fatty acids and metabolites across the peroxisomal membrane
Hettema, E. H., & Tabak, H. F. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00045-7 · Cited by 126
X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
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The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder
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Adrenoleukodystrophy: correlating MR imaging with CT.
Kumar, A. J., Rosenbaum, A. E., Naidu, S., Wener, L., Citrin, C. M., Lindenberg, R., Kim, W. S., Zinreich, S. J., Molliver, M. E., & Mayberg, H. S. (1987) · Radiology · doi:10.1148/radiology.165.2.3659373 · Cited by 120
Transport of Activated Fatty Acids by the Peroxisomal ATP‐binding‐cassette Transporter Pxa2 in a Semi‐Intact Yeast Cell System
Verleur, N., Hettema, E. H., Van Roermund, C. W. T., Tabak, H. F., & Wanders, R. J. A. (1997) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1997.00657.x · Cited by 117
Self-citation
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype
Korenke, G. C., Wilichowski, E., Hunneman, D. H., Hanefeld, F., Fuchs, S., Krasemann, E., & Doerr, H. G. (1996) · Annals of Neurology · doi:10.1002/ana.410400221 · Cited by 117
X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.
(2000) · PubMed Central · Cited by 114
Self-citation
Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy
Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W., & Chong, S. S. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2779 · Cited by 112
Self-citation
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Cartier, N., Lopez, J., Moullier, P., Rocchiccioli, F., Rolland, M. O., Jorge, P., Mosser, J., Mandel, J. L., Bougnères, P. F., & Danos, O. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.5.1674 · Cited by 105
Mutational analysis of patients with X-linked adrenoleukodystrophy
Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P. A., Gould, S., Sack, G., et al. (1995) · Human Mutation · doi:10.1002/humu.1380060203 · Cited by 103
Self-citation
FILM REVIEW
Moser, H. W. (1993) · The Lancet · doi:10.1016/0140-6736(93)90295-r · Cited by 102
Self-citation
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
(1996) · PubMed Central · Cited by 99
Predominance of the adrenomyeloneuropathy phenotype of X‐linked adrenoleukody strophy in the Netherlands: A survey of 30 kindreds
van Geel, B. M., Assies, J., Weverling, G. J., & Barth, P. G. (1994) · Neurology · doi:10.1212/wnl.44.12.2343 · Cited by 90
Quantitative Proton Magnetic Resonance Spectroscopy of Childhood Adrenoleukodystrophy
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Self-citation
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Background
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The Human ATP-Binding Cassette (ABC) Transporter SuperfamilyPreprint
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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: Kemp, Stephan
Pujol, Aurora
Waterham, Hans R.
Raymond, Gerald V.
Cutting, Garry R.
Wanders, Ronald J.A.
Venue: Human Mutation
Publisher: Wiley
Published: 2001
Volume: 18
Issue: 6
Pages: 499-515
ISSN: 1059-7794 (ISSN-L)
1098-1004
DOI: 10.1002/humu.1227
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
Licence: doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 5356 d)
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

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ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

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