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Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
ADRENOLEUKODYSTROPHY (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults1. Childhood ALD is the more severe form,Expand
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Imaging cortical association tracts in the human brain using diffusion‐tensor‐based axonal tracking
Diffusion‐tensor fiber tracking was used to identify the cores of several long‐association fibers, including the anterior (ATR) and posterior (PTR) thalamic radiations, and the uncinate (UNC),Expand
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Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
The peroxisome biogenesis disorders (PBDs) are lethal recessive diseases caused by defects in peroxisome assembly. We have isolated PXR1, a human homologue of the yeast P. pastoris PAS8 (peroxisomeExpand
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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive phenotype that comprises complementation group 11 of the peroxisome biogenesis disorders (PBD). PEX7, a candidate gene forExpand
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ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
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)Expand
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Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy.
  • H. Moser
  • Psychology, Medicine
  • Brain : a journal of neurology
  • 1 August 1997
The occasion of the presentation of the eighth Gordon Holmes Lecture left me feeling both honoured and awed, as a result of my review of the Selected Papers of Gordon Holmes (Phillips CG: SelectedExpand
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The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
In humans, defects in peroxisome assembly result in the peroxisome biogenesis disorders (PBDs), a group of genetically heterogeneous, lethal recessive diseases. We have identified the human geneExpand
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Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used procedure for the diagnosis of X‐linked adrenoleukodystrophy (X‐ALD) andExpand
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X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporterExpand
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Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
The peroxisome biogenesis disorders (PBDs) are a group of lethal autosomal-recessive diseases caused by defects in peroxisomal matrix protein import, with the concomitant loss of multiple peroxisomalExpand
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