The DOI matches its Crossref record; 58 of the 58 references it cites were found in a registry or an index; 3 of the 8 sources its claims cite were checked for support.
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage
Open accessAbstract
ATP-binding cassette (ABC) transporters facilitate unidirectional translocation of chemically diverse substances, ranging from peptides to lipids, across cell or organelle membranes. In peroxisomes, a subfamily of four ABC transporters (ABCD1 to ABCD4) has been related to fatty acid transport, because patients with mutations in ABCD1 (ALD gene) suffer from X-linked adrenoleukodystrophy (X-ALD), a disease characterized by an accumulation of very-long-chain fatty acids (VLCFAs). Inactivation in the mouse of the abcd1 gene leads to a late-onset neurodegenerative condition, comparable to the late-onset form of X-ALD [Pujol, A., Hindelang, C., Callizot, N., Bartsch, U., Schachner, M. and Mandel, J.L. (2002) Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum. Mol. Genet., 11, 499-505.]. In the present work, we have generated and characterized a mouse deficient for abcd2, the closest paralog to abcd1. The main pathological feature in abcd2-/- mice is a late-onset cerebellar and sensory ataxia, with loss of cerebellar Purkinje cells and dorsal root ganglia cell degeneration, correlating with accumulation of VLCFAs in the latter cellular population. Axonal degeneration was present in dorsal and ventral columns in spinal cord. We have identified mitochondrial, Golgi and endoplasmic reticulum damage as the underlying pathological mechanism, thus providing evidence of a disturbed organelle cross-talk, which may be at the…
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63 Own result · 16 Own interpretation · 4 No full text of the sources · 4 Own method · 3 Supported · 2 No basis given · 1 Sources not found
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In the paper
“inactivation of abcd2 does not lead to accumulation of VLCFAs in nervous tissues”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > INTRODUCTION
What the sources say
- Supportedcites [18] Pujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pampols, T., Giros, M. and Mandel, J.L. (2004) Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum. Mol. Genet., 13, 2997–3006. source
The Discussion states that ALDR/ABCD2 inactivation does not cause VLCFA accumulation in whole homogenates of the mouse CNS or PNS. The results section likewise reports that absence of ALDR did not seem to affect VLCFA levels in the central or peripheral nervous system. (LLM, conf=0.93)
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In the paper
“C24:0 levels are higher in double mutants than in wild-type or abcd1-fibroblasts (P , 0.01).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
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In the paper
“Axonal degeneration was present in dorsal and ventral columns in spinal cord.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Abstract
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In the paper
“correlating with accumulation of VLCFAs in the latter cellular population”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Abstract
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In the paper
“all the pathological changes noticed by ultrastructural or immunohistochemical techniques in abcd22/2 mice at DRGs, spinal cords and cerebellar sites were presented in the same extent, intensity and age by abcd1 deficient mice.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
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In the paper
“double mutant fibroblasts accumulate higher levels of C26:0 than abcd1-fibroblasts (P , 0.001).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
plaincorrelational- Asserted: passes — The authors put it forward as true.
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In the paper
“At 12 months of age, abcd22/2 mice present lower amplitude of the H-wave than their wild-type littermates”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Defective spinal reflex in abcd22/2 mice
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In the paper
“We observed disturbed endoplasmic reticulum and Golgi apparatus, with dilatation and fragmentation of channels and cisterns”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
plain- Asserted: passes — The authors put it forward as true.
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In the paper
“abcd22/2 null mice were significantly more active than their wild-type littermates.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Behavioral deficits in ALDRP-deficient mice
plaincorrelational- Asserted: passes — The authors put it forward as true.
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In the paper
“mice lacking ALDRP displayed progressive behavioral deficits, consistent with ongoing neural degeneration from 12 months onwards.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Behavioral deficits in ALDRP-deficient mice
plaindirect- Asserted: passes — The authors put it forward as true.
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- It may state two separate claims as one. 15
- Probably not a substantial claim. 16
- The quote only partly states this claim. 2
Every source the paper cites for this claim was checked and supports it.
In the paper
“its stable overexpression by transgenesis in the ALD knoc-kout mouse prevents accumulation of VLCFAs as well as the onset of neurological phenotype”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > INTRODUCTION
What the sources say
- Supportedcites [18] Pujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pampols, T., Giros, M. and Mandel, J.L. (2004) Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum. Mol. Genet., 13, 2997–3006. source
The Introduction describes stable ALDR/ABCD2 overexpression by transgenesis in ALD-knockout mice. The Results report normalized VLCFA levels, and the Discussion reports prevention of neurodegenerative features through 20–22 months of age. (LLM, conf=0.94)
plaindirect- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
- Supported
Every source the paper cites for this claim was checked and supports it.
In the paper
“Indeed, recent evidence indicates a severe impairment of fast axonal transport system in the PLP/DM20 deficient mouse (51), thus underscoring the importance of a healthy membrane for axonal function.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > DISCUSSION
What the sources say
- Supportedcites [51] Edgar, J.M., McLaughlin, M., Yool, D., Zhang, S.C., Fowler, J.H., Montague, P., Barrie, J.A., McCulloch, M.C., Duncan, I.D., Garbern, J. et al. (2004) Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. J. Cell Biol., 166, 121–131. source
The Results section, “Absence of PLP impairs fast axonal transport systems,” reports a retrograde-transport deficit in PLP/DM20-deficient mice that worsened with age; tracer fluorescence was only 31% of control after three days. The Discussion, “PLP/DM20 is necessary for fast transport in myelinated axons,” also states that both anterograde and retrograde transport are perturbed and that transport can arrest or become severely retarded. Page numbers were not supplied. (LLM, conf=0.93)
hedgeddirect- Asserted: passes — The authors put it forward as true.
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- Load-bearing: fails — The paper’s conclusions may not depend on it.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
- Supported
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
“Mice lacking the abcd2 gene were delivered in expected Mendelian ratios, were viable and fertile and did not show any obvious abnormalities in development, behavior or gross morphology of the nervous system up to 6 months”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Generation of abcd2 null mutant mice (abcd22/2)
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“lack of ALDRP is neither translated into an accumulation of VLCFAs nor into a decrease of C26:0 b-oxidation capacity”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“Double mutants showed a more severe involvement and earlier onset of pathological signs, evidenced from 12 months onwards.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
plaindirect- Asserted: passes — The authors put it forward as true.
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It 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
“the offspring obeyed Mendelian ratios.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Mouse generation, breeding and genotyping
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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In the paper
“At the image center, enlargement of a non-myelinated fiber, with accumulation of organelles.Note myelinated degenerating axons, with decompactation of axolemma (asterisk).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plainSingle case- Asserted: passes — The authors put it forward as true.
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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
“By the fourth trial, control animals ran the bar with not more than two slips.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Horizontal bar cross test
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
“In adult stages (weeks 5-6), aldr is expressed in interneurons of pons (G) and spinal cord (H).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
“The abcd2 -/ -mice were generated by inactivation of the abcd2 gene by classic homologous recombination.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Mouse generation, breeding and genotyping
plaindirect- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
“In contrast, the ald gene exhibits a low and ubiquitous expression pattern, throughout embryonic development (B and D) and adult pons (I) and spinal cord (J).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
“Axonal degeneration: involution of the cellular organites with the formation of a fibrillar body (f) and myelin-like bodies (arrow); numerous vacuoles.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“Motor neuron cell body with hypertrophy of abnormal Golgi (g) cisternae associated to fragmented smooth ER (asterisk).Mitochondrial enlargement and densification of cristae (arrows).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plaincorrelational- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“In neurons, lamellar bodies derived from altered Golgi (g) and rough endoplasmic reticulum (arrows).Note mitochondria with tubular cristae (asterisk) and ring-shaped alteration (white arrow).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“Focal loss of staining with anti-calbindin D28K in the aldr2/2 mice.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
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The quote only partly states this claim.
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
“Double mutant animals show delayed time to cross the bar and increased number of slips.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plaindirect- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“Focal upregulations of GFAP expression in aldr2/2.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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The quote only partly states this claim.
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
“Proliferative neurons in cortex (C and E) and neuro-olfactive epitelium (F) are strongly positive for aldr at E14 and 5.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
boostedcorrelational- Asserted: passes — The authors put it forward as true.
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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
“Aldr is strongly expressed in DRGs at E11 and 5.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
boosted- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
“Abnormal mitochondria with a lipid droplet and circular cristae in a ganglion cell (m).Fragmentation of Golgi cisternae (g).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“Remnants of the Golgi apparatus in the form of lamellae (arrows), in a zone with small smooth ER vacuoles.Two lamellated bodies within an axonal fiber (open arrows).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
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
“We obtained three recombinant clones, out of 302, resistant to neomycin, which were injected into blastocysts from C57BL/6 mice.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Mouse generation, breeding and genotyping
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
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
“Myelin remnants in the Schwann cell, resulting in a fibrillar and granular body (f).Axolemma decompactation (arrow).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
In the paper
“Inactivation in the mouse of the abcd1 gene leads to a late-onset neurodegenerative condition, comparable to the late-onset form of X-ALD”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Abstract
What the sources say
- Not matchedcites Pujol, A., Hindelang, C., Callizot, N., Bartsch, U., Schachner, M. and Mandel, J.L. (2002)
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
plaindirect- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
- 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
“Taking all pathological findings together, we conclude that abcd22/2 mice develop a lateonset spinocerebellar ataxia, with impaired propioception most likely due to neuronal degenerative processes at the DRG level or to synaptic defects in spinal cord.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > DISCUSSION
hedgedconditional- Asserted: passes — The authors put it forward as true.
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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
“Defective mitochondria may lead to a failure of ATP-dependent axoplasmic transport with consequent 'dying-back' axonal degeneration.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > DISCUSSION
hedgedconditional- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
In the paper
“Mutations in ABCD1 results in X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN) (12).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > INTRODUCTION
What the sources say
- Not checked — no full text of the sourcecites [12] Mosser, J., Douar, A.M., Sarde, C.O., Kioschis, P., Feil, R., Moser, H., Poustka, A.M., Mandel, J.L. and Aubourg, P. (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature, 361, 726–730. source
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
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Probably 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
“We propose that the composition, maintenance or recycling process of myelin and neuronal/axonal membrane might be disturbed in the ALD and ALDR models, leading to impaired axono-glia communication, which would be detrimental for both interconnected compartments.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > DISCUSSION
hedgedconditional- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
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- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
In the paper
“VLCFAs levels have been found to be increased in X-ALD brain gangliosides (48), which might contribute to pathogenesis.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > DISCUSSION
What the sources say
- Not checked — no full text of the sourcecites [48] Igarashi, M., Schaumburg, H.H., Powers, J., Kishmoto, Y., Kolodny, E. and Suzuki, K. (1976) Fatty acid abnormality in adrenoleukodystrophy. J. Neurochem., 26, 851–860. source
plaincorrelational- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably 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
“thus underscoring the importance of a healthy membrane for axonal function.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > DISCUSSION
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“Crucial experiments (locomotor tests and EMG) have been confirmed with pure C57BL/6J background mice.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Mouse generation, breeding and genotyping
boosted- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“Results described in this manuscript are derived from mice on a mixed C57BL/ 6J/129Sv background (87% C57BL/6J and 13%129Sv).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Mouse generation, breeding and genotyping
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“Histology, morphometric, behavioral testing and electrophysiological experiments were performed in a blind way with respect to the animal's genotype.”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Mouse generation, breeding and genotyping
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
The paper relies on this without support.
No human disease has been attributed to defects in the genes coding for ALDRP (ABCD2), PMP70 (ABCD3) or PMP69 (ABCD4).
“To date, no human disease has been attributed to defects in the genes coding for ALDRP (ABCD2), PMP70 (ABCD3) or PMP69 (ABCD4).”
The paper relies on this without support.
The functions of ABCD2, ABCD3 and ABCD4 in higher eukaryotes are unknown.
“The functions of the three other transporters in higher eukaryotes are unknown”
The paper relies on this without support.
No human syndrome compatible with the abcd2-/- phenotype has been linked to the ABCD2 locus at 12q1.1-1.2.
“To date, no human syndrome compatible with this phenotype has been linked to the ABCD2 locus at 12q1.1 -1.2.”
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
“Electron microscopy in Abcd2 KO mice showed the first signs of spinal cord axonal pathology at 12 months, yet no histological abnormalities.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [196]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“In Abcd2-deficient mice, saturated VLCFA do not generally accumulate; increased C26∶0 levels have been detected exclusively in the dorsal root ganglia of young Abcd2-deficient mice [33].”
From Abcd2 Is a Strong Modifier of the Metabolic Impairments in Peritoneal Macrophages of Abcd1-Deficient Mice (2014) · cites this paper as [33]
The cited source says what the claim attributes to it.
In the citing paper
“One notable exception are the dorsal root ganglia [33], which may explain the earlier onset of a sensory motor phenotype in Abcd1/Abcd2 double-deficient and Abcd2 single-deficient mice compared with Abcd1-deficient mice [31].”
From Abcd2 Is a Strong Modifier of the Metabolic Impairments in Peritoneal Macrophages of Abcd1-Deficient Mice (2014) · cites this paper as [33]
The cited source says what the claim attributes to it.
In the citing paper
“At 12 months of age, Abcd2 KO mice already displayed a marked impairment in their motor performance, which aggravated up to 20 months.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [196]
The cited source says what the claim attributes to it.
In the citing paper
“The brain of Abcd2 KO mice showed no significant difference compared to wild type littermates.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [196]
The cited source says what the claim attributes to it.
In the citing paper
“Histological abnormalities in spinal cord dorsal and ventral columns became evident at 20 months, while atrophy or death of Purkinje cells was detected in the cerebellum.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [196]
The cited source says what the claim attributes to it.
In the citing paper
“Abcd1: Abcd2 double KO mice had an earlier onset of symptoms with more severe motor deficits (at 20 months of age, 6 out of 11 mice were not able to perform motor tests), axonal degeneration, and myelin alterations, but no cerebral pathology.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [196]
The cited source says what the claim attributes to it.
In the citing paper
“Moreover, Acbd2–/– mice develop signs of ataxia corresponding to a significant decline in cerebellar Purkinje neurons at the age of 20 months, suggesting that the more severe locomotor phenotype is associated with the degeneration of central motor centers (Ferrer et al., 2005).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Ferrer et al., 2005
The cited source says what the claim attributes to it.
In the citing paper
“Moreover, Acbd2–/– mice develop signs of ataxia corresponding to a significant decline in cerebellar Purkinje neurons at the age of 20 months, suggesting that the more severe locomotor phenotype is associated with the degeneration of central motor centers (Ferrer et al., 2005).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Ferrer et al., 2005
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.
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
“In this cell type, lack of ALDRP is neither translated into an accumulation of VLCFAs nor into a decrease of C26:0 b-oxidation capacity (Fig. 3G and H).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
“(F) Capacity of adult fibroblasts to b-oxidize C26:0, expressed as picomoles per hour per milligram of protein.”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
“A clear reduction of non-phosphorylated neurofilaments in Purkinje cells (SMI 32 antibody) (23) indicated reduced dendritic arborization (Fig. 7E and F).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
“(F) Focal upregulations of GFAP expression in aldr2/2.(H) Strong reduction of non-phosphorylated neurofilaments in Purkinje cells was seen by staining with anti-SMI32.”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Biochemical function of ALDRP
“We could indeed detect an accumulation of C26:0 in DRGs from abcd22/2 mice (Fig. 3I and J, P , 0.002).”
§ Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage > Immunohistochemistry
“(G and H) Quantification of saturated VLCFA levels by ESI-MS in adult fibroblasts and DRG samples, expressed as micromoles per milligram of protein.”
Citations
Cites
Peroxisomes (microbodies and related particles).
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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
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Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination
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Qualitative alteration in substrate specificity of mitochondrial monoamine oxidase in brain
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Peroxisome biogenesis disorders
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Research works printed but not linked: 1
- Silva-Zolezzi, I., Hebron, K., Mihalik, S., Thomas, G., Valle, D. and Jimenez-Sanchez, G. (2003) Abcd3−/− mice have a non-shivering thermogenesis defect related to a disturbance in fasting fuel homeostasis. 53rd Annual Meeting of the American Society of Human Genetics. The American Society of Human Genetics, Los Angeles, California, Vol. Supplement to Vol. 73, p. 199.
Cited by
Sorted by citations
The Peroxisome-Mitochondria Connection: How and Why?
Fransen, M., Lismont, C., & Walton, P. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18061126 · Cited by 351
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
Veldhoven, P. P. V. (2010) · Journal of Lipid Research · doi:10.1194/jlr.r005959 · Cited by 341
Redox interplay between mitochondria and peroxisomes
Lismont, C., Nordgren, M., Van Veldhoven, P. P., & Fransen, M. (2015) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2015.00035 · Cited by 214
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
Fourcade, S., Lopez-Erauskin, J., Galino, J., Duval, C., Naudi, A., Jove, M., Kemp, S., Villarroya, F., Ferrer, I., Pamplona, R., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn085 · Cited by 214
“5 and 17 months of age, after perfusion with PFA4% basically as described (5,52).”
BackgroundMethodSelf-citationPeroxisome‐mitochondria interplay and disease
Schrader, M., Costello, J. L., Godinho, L. F., & Islinger, M. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-015-9819-7 · Cited by 232
The human ATP‐binding cassette (ABC) transporter superfamily
Dean, M. C., Moitra, K., & Allikmets, R. L. (2022) · Human Mutation · doi:10.1002/humu.24418 · Cited by 205
Metabolite transport across the peroxisomal membrane
Visser, W. F., van Roermund, C. W. T., IJlst, L., Waterham, H. R., & Wanders, R. J. A. (2006) · Biochemical Journal · doi:10.1042/bj20061352 · Cited by 169
Self-citationPathomechanisms underlying X-adrenoleukodystrophy: A three-hit hypothesis
Singh, I., & Pujol, A. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00392.x · Cited by 148
“It correlates with an earlier disease onset of more severe neurodegenerative phenotype of the double mutant mice, with axonal damage, locomotor and behavioral abnormalities and peripheral nerve conduction impairment (13, 53).”
BackgroundSelf-citationGeneral aspects and neuropathology of X-linked adrenoleukodystrophy
Ferrer, I., Aubourg, P., & Pujol, A. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00390.x · Cited by 139
“Altered mitochondria have also been observed in neurons of spinal cords of ABCD1 and ABCD2- mice (41).”
BackgroundSelf-citationAntioxidants halt axonal degeneration in a mouse model of X‐adrenoleukodystrophy
López‐Erauskin, J., Fourcade, S., Galino, J., Ruíz, M., Schlüter, A., Naudí, A., Jové, M., Portero‐Otín, M., Pamplona, R., Ferrer, I., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22363 · Cited by 135
“Also, locomotor testing is facilitated in this model, as the first signs of neurological involvement can be seen at 15 months of age, using the bar cross test.(38) For the sake of starting the treatment on symptomatic mice, we re-evaluated locomotor skills by using the bar cross(38) and treadmill tests,(39) starting a…”
BackgroundMethodInfluentialSelf-citationMitochondria and peroxisomes: Are the ‘Big Brother’ and the ‘Little Sister’ closer than assumed?
Schrader, M., & Yoon, Y. (2007) · BioEssays · doi:10.1002/bies.20659 · Cited by 136
López-Erauskin, J., Galino, J., Ruiz, M., Cuezva, J. M., Fabregat, I., Cacabelos, D., Boada, J., Martínez, J., Ferrer, I., Pamplona, R., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt186 · Cited by 125
“Of note, we and others have previously described ultrastructural abnormalities in mitochondria from neurons of Abcd1(2) and Abcd2 mouse spinal cords (22) and Abcd1(2) adrenocortical cells (23), consistent with observations in AMN patients (24,25), and peroxisomal-deficient Zellweger patients (26) and Pex5 mice (27).”
ResultSelf-citationABC lipid transporters: Extruders, flippases, or flopless activators?
Gerrit van, M. E. E. R., Halter, D., Sprong, H., Somerharju, P. J., & Egmond, M. R. (2005) · FEBS Letters · doi:10.1016/j.febslet.2005.12.019 · Cited by 121
Theodoulou, F. L., Holdsworth, M. J., & Baker, A. (2006) · FEBS Letters · doi:10.1016/j.febslet.2005.12.095 · Cited by 119
Kemp, S., Theodoulou, F. L., & Wanders, R. J. (2011) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2011.01435.x · Cited by 115
“An Abcd2 knockout mouse model has been generated and characterized (Ferrer et al., 2005).”
BackgroundMethodSelf-citationThe peroxisomal ABC transporter family
Wanders, R. J. A., Visser, W. F., van Roermund, C. W. T., Kemp, S., & Waterham, H. R. (2006) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-006-0142-x · Cited by 111
“Furthermore, mitochondrial, Golgi, and endoplasmic reticulum abnormalities were observed, indicative of a disturbed organellar network, which may be at the origin of the pathological cascade [19].”
BackgroundSelf-citationGalea, E., Launay, N., Portero-Otin, M., Ruiz, M., Pamplona, R., Aubourg, P., Ferrer, I., & Pujol, A. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.02.005 · Cited by 108
Self-citationA key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis
Fourcade, S., Ruiz, M., Camps, C., Schlüter, A., Houten, S. M., Mooyer, P. A. W., Pàmpols, T., Dacremont, G., Wanders, R. J. A., Giròs, M., et al. (2009) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.90736.2008 · Cited by 104
Self-citationN-acetylcysteine Pharmacology and Applications in Rare Diseases—Repurposing an Old Antioxidant
Sahasrabudhe, S. A., Terluk, M. R., & Kartha, R. V. (2023) · Antioxidants · doi:10.3390/antiox12071316 · Cited by 102
Pastural, É., Ritchie, S. A., Lu, Y., Jin, W., Kavianpour, A., Su-Myat, K. K., Heath, D., Wood, P. L., Fisk, M., & Goodenowe, D. B. (2009) · Prostaglandins Leukotrienes and Essential Fatty Acids · doi:10.1016/j.plefa.2009.06.003 · Cited by 101
Organelle dynamics and dysfunction: A closer link between peroxisomes and mitochondria
Camões, F., Bonekamp, N. A., Delille, H. K., & Schrader, M. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-1018-3 · Cited by 93
“…2004; Epstein et al 2001; Motley et al 2008), and ultrastructural and functional mitochondrial alterations were observed under conditions in which peroxisome biogenesis or function was impaired (Baumgart et al 2001; Dirkx et al 2005; Fan et al 1998; Ferrer et al 2005; McGuinness et al 2003).”
BackgroundCurrent and Future Pharmacological Treatment Strategies in X‐Linked Adrenoleukodystrophy
Berger, J., Pujol, A., Aubourg, P. R., & Forss‐Petter, S. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00393.x · Cited by 93
“Mice with targeted inactivation of both Abcd1 and Abcd2 develop late-onset AMN-like myelopathy and axonal degeneration in the spinal cord, months before axonopathy and motor behavior-deficits are detected in Abcd1 single mutant mice (24, 84, 85) and were selected for this trial in order to allow evaluation of long-ter…”
BackgroundSelf-citationGlutathione and peroxisome redox homeostasis
Ferreira, M. J., Rodrigues, T. A., Pedrosa, A. G., Silva, A. R., Vilarinho, B. G., Francisco, T., & Azevedo, J. E. (2023) · Redox Biology · doi:10.1016/j.redox.2023.102917 · Cited by 98
The ins and outs of peroxisomes: Co-ordination of membrane transport and peroxisomal metabolism
Rottensteiner, H., & Theodoulou, F. L. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.012 · Cited by 84
Galino, J., Ruíz, M., Fourcade, S., Schlüter, A., López‐Erauskin, J., Guilera, C., Jové, M., Naudí, A., García‐Arumí, E., Andreu, A. L., et al. (2011) · Antioxidants and Redox Signaling · doi:10.1089/ars.2010.3877 · Cited by 85
“Evidence of ultrastructural anomalies of mitochondria in spinal neurons of Abcd1 - mice have been reported (18); this is consistent with previous findings of mitochondria alterations in liver of peroxisomal deficient models (5).”
Self-citationAbnormal Muscle Spindle Innervation and Large-Fiber Neuropathy in Diabetic Mice
Muller, K. A., Ryals, J. M., Feldman, E. L., & Wright, D. E. (2008) · Diabetes · doi:10.2337/db08-0022 · Cited by 82
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy
Morató, L., Galino, J., Ruíz, M., Calingasan, N. Y., Starkov, A. A., Dumont, M., Naudí, A., Martínez, J. J., Aubourg, P. R., Portero‐Otín, M., et al. (2013) · Brain · doi:10.1093/brain/awt143 · Cited by 82
“Spinal cords were harvested from 12-month-old wild-type and Abcd1 / or 18-month-old wild-type, Abcd1 / /Abcd2 / and Abcd1 / /Abcd2 / mice fed with pioglitazone for 4 months, after perfusion with 4% paraformaldehyde, as described (Pujol et al., 2004; Ferrer et al., 2005; Lopez-Erauskin et al., 2011).”
Self-citationPena, S. D. J., & Coimbra, R. (2014) · Clinical Genetics · doi:10.1111/cge.12542 · Cited by 76
“The ABCD2 variant had some pathogenic features, but the phenotype was of a late-onset ataxia in mice (1), rather than the infantile onset we saw in our patient.”
BackgroundFourcade, S., Ferrer, I., & Pujol, A. (2015) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2015.05.041 · Cited by 80
Self-citationSingh, J., Khan, M., & Singh, I. (2008) · Journal of Lipid Research · doi:10.1194/jlr.m800321-jlr200 · Cited by 77
Organelle interplay in peroxisomal disorders
Thoms, S., Grønborg, S. W., & Gärtner, J. (2009) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2009.05.002 · Cited by 74
Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy
Schlüter, A., Espinosa, L., Fourcade, S., Galino, J., López, E., Ilieva, E., Morató, L., Asheuer, M., Cook, T., McLaren, A., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/ddr536 · Cited by 72
“The generation and genotyping of Abcd1 mice have been previously described (8,9,11,51).”
MethodSelf-citationPeroxisomal ABC Transporters: An Update
Tawbeh, A., Gondcaille, C., Trompier, D., & Savary, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22116093 · Cited by 68
Jorge-Torres, O. C., Szczęsna, K., Roa, L., Casal, C., Somermeyer, L. G., Soler, M., Velasco, C. D., Segundo, P. M. S., Petazzi, P., Sáez, M., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.04.010 · Cited by 66
“The test was carried out as described previously (Ferrer et al., 2005).”
MethodSelf-citationPeroxisomes, myelination, and axonal integrity in the CNS
Baes, M., & Aubourg, P. (2009) · The Neuroscientist · doi:10.1177/1073858409336297 · Cited by 65
Launay, N., Ruíz, M., Grau, L., Ortega, F. J., Ilieva, E. V., Martínez, J. J., Galea, E., Ferrer, I., Knecht, E., Pujol, A., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1655-9 · Cited by 63
“Morphological abnormalities of the ER compartment have been described in peroxisomal mutants, including Pex5−/− [18] and Abcd2−/− mice [27].”
BackgroundSelf-citationFourcade, S., López-Erauskin, J., Ruiz, M., Ferrer, I., & Pujol, A. (2014) · Biochimie · doi:10.1016/j.biochi.2013.09.012 · Cited by 55
Self-citationVerheijden, S., Bottelbergs, A., Krysko, O., Krysko, D. V., Beckers, L., De Munter, S., Van Veldhoven, P. P., Wyns, S., Kulik, W., Nave, K.-A., et al. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.06.006 · Cited by 54
“Interestingly, a late onset mild ataxia (from 15 months) with loss of Purkinje cells (from 20 months) was observed in both Abcd1 and Abcd2 knockoutmice (Ferrer et al., 2005).”
BackgroundGenin, E. C., Geillon, F., Gondcaille, C., Athias, A., Gambert, P., Trompier, D., & Savary, S. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.211912 · Cited by 53
Raas, Q., Gondcaille, C., Hamon, Y., Leoni, V., Caccia, C., Ménétrier, F., Lizard, G., Trompier, D., & Savary, S. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2019.02.006 · Cited by 53
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy
Launay, N., Aguado, C., Fourcade, S., Ruíz, M., Grau, L., Riera, J., Guilera, C., Girós, M., Ferrer, I., Knecht, E., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1378-8 · Cited by 55
“onset at 12 months of age [16, 64, 65]; therefore, this is”
BackgroundMethodInfluentialSelf-citationSteroid Hormones Control Circadian Elovl3 Expression in Mouse Liver
Brolinson, A., Fourcade, S., Jakobsson, A., Pujol, A., & Jacobsson, A. (2008) · Endocrinology · doi:10.1210/en.2007-1402 · Cited by 53
Self-citationLu, J., Barron‐Casella, E. A., Brose, R. D., Heinzer, A. K., Moser, A. B., Bentley, K. L. D. M., Wand, G. S., McGuinness, M. C., Pei, Z., Watkins, P. A., et al. (2007) · Laboratory Investigation · doi:10.1038/labinvest.3700512 · Cited by 48
“Its physiological function is also unknown; even though no known human disease is associated with this gene, overexpression of abcd2/ABCD2 can compensate for the loss of abcd1/ABCD1 in the mouse in vivo and in cultured human and mouse fibroblasts.5,6 There is overlap of ABCD1 and ABCD2 expression in several tissues, b…”
BackgroundSelf-citationYamanishi, K., Maeda, S., Kuwahara‐Otani, S., Watanabe, Y., Yoshida, M., Ikubo, K., Okuzaki, D., El‐Darawish, Y., Li, W., Nakasho, K., et al. (2016) · Translational research · doi:10.1016/j.trsl.2016.03.010 · Cited by 47
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Generalised and conditional inactivation of Pex genes in mice
Baes, M. I., & Veldhoven, P. P. V. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.018 · Cited by 45
Peroxisomal Disorders: A Review on Cerebellar Pathologies
Munter, S. D., Verheijden, S., Régal, L., & Baes, M. I. (2015) · Brain Pathology · doi:10.1111/bpa.12290 · Cited by 46
“However, PC death was reported in the cerebellum of aged ABCD1-deficient mice (45), corresponding with the rare X-ALD patients with primary cerebellar atrophy.”
BackgroundMuneer, Z., Wiesinger, C., Voigtländer, T., Werner, H. B., Berger, J., & Forss-Petter, S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0108655 · Cited by 33
“In Abcd2-deficient mice, saturated VLCFA do not generally accumulate; increased C26:0 levels have been detected exclusively in the dorsal root ganglia of young Abcd2-deficient mice [33].”
BackgroundRodríguez-Pascau, L., Vilalta, A., Cerrada, M., Traver, E., Forss-Petter, S., Weinhofer, I., Bauer, J., Kemp, S., Pina, G., Pascual, S., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abc0555 · Cited by 40
Self-citationFunctional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy
Baarine, M., Khan, M., Singh, A., & Singh, I. (2015) · PLOS ONE · doi:10.1371/journal.pone.0143238 · Cited by 38
Singh, J., Khan, M., & Singh, I. (2011) · Journal of Lipid Research · doi:10.1194/jlr.m017491 · Cited by 38
Liu, J., Sabeva, N. S., Bhatnagar, S., Li, X., Pujol, A., & Graf, G. A. (2009) · Journal of Lipid Research · doi:10.1194/jlr.m900237-jlr200 · Cited by 36
Self-citationActivation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy
Morató, L., Ruíz, M., Boada, J., Calingasan, N. Y., Galino, J., Guilera, C., Jové, M., Naudí, A., Ferrer, I., Pamplona, R., et al. (2015) · Cell Death and Differentiation · doi:10.1038/cdd.2015.20 · Cited by 33
“The Abcd1/Abcd2 mice, compared with the Abcd1 mice, display greater VLCFA accumulation in the spinal cord,(19) higher levels of oxidative damage to proteins,(20) and a more severe AMN-like pathology with an earlier onset at 12 months of age.(19,67) It is worth mentioning that to date, no disease-causative role for ABC…”
Self-citationDarwisch, W., von Spangenberg, M., Lehmann, J., Singin, Ö., Deubert, G., Kühl, S., Roos, J., Horstmann, H., Körber, C., Hoppe, S., et al. (2020) · Communications Biology · doi:10.1038/s42003-020-01442-x · Cited by 32
Singh, I., Samuvel, D. J., Choi, S., Saxena, N., Singh, A. K., & Won, J. (2018) · Immunology · doi:10.1111/imm.12893 · Cited by 29
Szczęsna, K., Jorge-Torres, O. C., Petazzi, P., Soler, M., Roa, L., Sáez, M., Fourcade, S., Pujol, A., Artuch-Iriberri, R., Molero-Luís, M., et al. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2014.136 · Cited by 28
“The bar cross test, as previously described (Ferrer et al, 2005; Lopez-Erauskin et al, 2011), was also carried out.”
BackgroundMethodSelf-citationFourcade, S., Goicoechea, L., Parameswaran, J., Schlüter, A., Launay, N., Ruíz, M., Seyer, A., Colsch, B., Calingasan, N. Y., Ferrer, I., et al. (2020) · Brain Pathology · doi:10.1111/bpa.12869 · Cited by 28
“Compared with the Abcd1- mice, the Abcd1−/Abcd2−/− mice display enhanced VLCFA accumulation in the spinal cord (57), higher levels of oxidative damage to proteins (21), and a more severe AMN-like pathology with an earlier onset at 12 months of age (16,57,58); therefore, this is the preferred model for assaying therape…”
BackgroundMethodInfluentialSelf-citationMastroeni, R., Bensadoun, J., Charvin, D., Aebischer, P., Pujol, A., & Raoul, C. (2009) · Annals of Neurology · doi:10.1002/ana.21677 · Cited by 27
“Interestingly, Abcd1 / ; Abcd2 / mice develop late-onset myelopathy with axonal degeneration that resembles adrenomyeloneuropathy.(4,5) Studies in humans and mice demonstrated that myelin and oligodendrocytes are the primary targets of the disease, with axonal degeneration being regarded as a consequence of the loss o…”
BackgroundMethodSelf-citationRen, Y., Diao, F., Katari, S., et al. (2018) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.345 · Cited by 26
“ABCD2 was ruled out as a candidate because mouse knockouts had cerebellar and sensory ataxia without infertility (Ferrer et al., 2005).”
BackgroundThe Fast and the Furious: Golgi Contact Sites
David, Y., Castro, I. G., & Schuldiner, M. (2021) · Contact · doi:10.1177/25152564211034424 · Cited by 24
“Deletion of ABCD2 in mice caused accumulation of VLCFAs and disruption of the Golgi architecture which resulted in neurodegeneration (Ferrer et al., 2005).”
BackgroundSingh, J., Khan, M., Pujol, A., Baarine, M., & Singh, I. (2013) · PLoS ONE · doi:10.1371/journal.pone.0070712 · Cited by 23
“Moreover, Abcd2/Aldrp shares a high degree of overlapping biochemical functions regarding the catabolism of VLCFA in vivo [39,40].”
BackgroundSelf-citationThe absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid
Liu, J., Liang, S., Liu, X., Brown, J. A., Newman, K. E., Sunkara, M., Morris, A. J., Bhatnagar, S., Li, X., Pujol, A., et al. (2012) · Journal of Lipid Research · doi:10.1194/jlr.m022160 · Cited by 23
Self-citationSingh, J., Khan, M., & Singh, I. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2013.01.004 · Cited by 21
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Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies
Miranda, C. O., Brites, P., Sousa, M. M., & Teixeira, C. A. (2013) · Cell Transplantation · doi:10.3727/096368912x656117 · Cited by 18
Clinical and Neuroimaging Spectrum of Peroxisomal Disorders
Tan, A. P., Gonçalves, F. G., Almehdar, A., & Soares, B. P. (2018) · Topics in Magnetic Resonance Imaging · doi:10.1097/rmr.0000000000000172 · Cited by 16
Trompier, D., & Savary, S. (2013) · Colloquium Series on The Genetic Basis of Human Disease · doi:10.4199/c00075ed1v01y201303gbd004 · Cited by 17
In vivo labeling of peroxisomes by photoconvertible mEos2 in myelinating glia of mice
Richert, S., Kleinecke, S., Günther, J., Schaumburg, F., Edgar, J. M., Nienhaus, G. U., Nave, K., & Kassmann, C. M. (2013) · Biochimie · doi:10.1016/j.biochi.2013.10.022 · Cited by 18
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy
Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schlüter, A., Fourcade, S., Paredes-Fuentes, A. J., et al. (2024) · Brain · doi:10.1093/brain/awae038 · Cited by 14
Self-citationDemonstration of bile acid transport across the mammalian peroxisomal membrane
Visser, W. F., van Roermund, C. W. T., IJlst, L., Waterham, H. R., & Wanders, R. J. A. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.03.083 · Cited by 13
Self-citationFowler, J. C., Zecchini, V. R., & Jones, P. H. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020767 · Cited by 12
“Transcription of two genes involved in fatty acid uptake were up-regulated at 6 hours post-induction (Table 1); Abcd2, a gene known to be involved in the peroxisomal import of fatty acids [37], and the very low density lipoprotein receptor (Vldlr) [38].”
BackgroundLiver X receptors: A therapeutic target in demyelinating disorders
Richartz, J., Yam, S. C., Zhan, N., Schepers, M., Tiane, A., Mulder, M. T., Wens, I., & Vanmierlo, T. (2025) · Pharmacological Research · doi:10.1016/j.phrs.2025.107861 · Cited by 12
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11
Dasouki, M. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-802896-4.00007-9 · Cited by 11
Ranea‐Robles, P., Galino, J., Espinosa, L., Schlüter, A., Ruíz, M., Calingasan, N. Y., Villarroya, F., Naudí, A., Pamplona, R., Ferrer, I., et al. (2021) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12747 · Cited by 10
Self-citationEnoyl thioester reductases—enzymes of fatty acid synthesis and degradation in mitochondria
Miinalainen, I. (2006) · Cited by 10
Liu, X., Liu, J., Liang, S., Schlüter, A., Fourcade, S., Aslibekyan, S. W., Pujol, A., & Graf, G. A. (2014) · Molecular Pharmacology · doi:10.1124/mol.114.092742 · Cited by 9
“505 cells and accumulation of VLCFA in dorsal root ganglia cells (Ferrer et al., 2005).”
BackgroundSelf-citationA novel cell model to study the function of the adrenoleukodystrophy-related protein
Gueugnon, F., Volodina, N., Taouil, J. E., Lopez, T. E., Gondcaille, C., Grand, A. S.-L., Mooijer, P. A. W., Kemp, S., Wanders, R. J. A., & Savary, S. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.12.152 · Cited by 11
Self-citationLipid Dyshomeostasis and Inherited Cerebellar Ataxia
Zhao, J., Zhang, H., Fan, X., Yu, X., & Huai, J. (2022) · Molecular Neurobiology · doi:10.1007/s12035-022-02826-2 · Cited by 9
Parameswaran, J., Goicoechea, L., Planas‐Serra, L., Pastor, A., Ruíz, M., Calingasan, N. Y., Guilera, C., Aso, E., Boada, J., Pamplona, R., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02451-2 · Cited by 9
“Compared with the Abcd1− mice, DKO mice display greater VLCFA accumulation in the spinal cord [32, 68], higher levels of oxidative damage to proteins [31], and a more severe AMNlike pathology with an earlier onset at 12 months of age [28, 68], which makes this model better suited for preclinical therapeutic assays.”
BackgroundSelf-citationEmerging nanomaterials for targeting peroxisomes
Bachhuka, A., Yadav, T. C., Santos, A., Marsal, L. F., Ergün, S., & Karnati, S. (2022) · Materials Today Advances · doi:10.1016/j.mtadv.2022.100265 · Cited by 8
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The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models
Dawes, M. L., Haberlander, J. P., Islinger, M., & Schrader, M. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1602343 · Cited by 7
Stem Cells in Genetic Myelin Disorders
Kemp, K. C., Mallam, E., Scolding, N. J., & Wilkins, A. (2010) · Regenerative Medicine · doi:10.2217/rme.10.10 · Cited by 7
Mouse Models to Study Peroxisomal Functions and Disorders: Overview, Caveats, and Recommendations
Kocherlakota, S., Swinkels, D., Veldhoven, P. P. V., & Baes, M. I. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-3048-8_34 · Cited by 8
Porcine arthrogryposis multiplex congenita (AMC): New diagnostic test and narrowed candidate region
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Mouse Models of Metachromatic Leukodystrophy and Adrenoleukodystrophy
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Single Peroxisomal Enzyme and Transporter Deficiencies in Human Diseases and Mouse Models
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Mouse Peroxisomal Protein cDNA Cloning and Characterization of its Intraclleular Localization
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Therapeutic Strategies for X-Linked Adrenoleukodystrophy, a Representative Peroxisomal Disorder
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Ultrastructural Pathology of Golgi Apparatus of Nerve Cells in Human Brain Edema
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Characterization & treatment of large sensory fiber peripheral neuropathy in diabetic mice
Muller, K. A. (2008) · KU ScholarWorks (University of Kansas) · Cited by 1
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Liu, X. (2014) · UKnowledge (University of Kentucky)
Prediction of disease causing gene in Xq22.1 region of human X-chromosome
Niranjan, V., Ahmed, R., Seenivasagam, R., et al. (2011) · International Journal of Bioinformatics Research and Applications · doi:10.1504/ijbra.2011.040092
“Repeat masked genomic segments (Figure 1) were aligned with the chimp genome using BLAST and mouse (Ferrer et al., 2005), rat, fugu genomes using BLASTn (http://blast.”
MethodUntersuchungen zum Fettsäuretransport durch zelluläre und peroxisomale Membranen
Scharnewski, M. (2010) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-399
Haubitz, M. (2012) · Repository for Publications and Research Data (ETH Zurich) · doi:10.3929/ethz-a-007313540
“ABCD2 is associated with lateonset cerebellar and sensory ataxia (Pujol et al. 2005), while SLC2A13 has been shown to be involved in the control of the myo-inositol brain metabolism (Thorens et al.”
Ranea‐Robles, P. (2017) · Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)
Ferrer, I. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-170609
Self-citation
Metadata
- Authors
- Ferrer, I., Kapfhammer, J. P., Hindelang, C., Kemp, S., Troffer-Charlier, N., Broccoli, V., Callyzot, N., Mooyer, P., Selhorst, J., Vreken, P., Wanders, R. J. A., Mandel, J. L., & Pujol, A.
- Affiliations
- University of Basel (CH)
- Centre National de la Recherche Scientifique (FR)
- Amsterdam UMC Location University of Amsterdam (NL)
- Sig Holding (Switzerland) (CH)
- Institució Catalana de Recerca i Estudis Avançats (ES)
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-10-13
- Volume
- 14
- Issue
- 23
- Pages
- 3565-3577
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2099862428
- Cited by
- 106
- References
- 56
- Citations by year
- 2025: 3 · 2024: 1 · 2023: 5 · 2022: 5 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 7 · 2017: 4 · 2016: 2 · 2015: 6 · 2014: 7 · 2013: 9 · 2012: 5
- FWCI
- 2.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- reroDoc Digital Library (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (Le Centre pour la Communication Scientifique Directe) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Peroxisome Proliferator-Activated Receptors
- Health Sciences › Medicine › Physiology (medical) › Adipose Tissue and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- ABCD2, peroxisomal ABC transporters, late-onset ataxia, very long chain fatty acids, Purkinje cells, axonal degeneration, mitochondrial damage, endoplasmic reticulum damage
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Animals, Behavior, Animal, Cerebellum, Disease Models, Animal, Endoplasmic Reticulum, Golgi Apparatus, Mitochondria, Spinal Cord
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