The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
about
Peroxisome synthesis in the absence of preexisting peroxisomesAdrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapyThe human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)-dependent isocitrate dehydrogenaseHomo- and heterodimerization of peroxisomal ATP-binding cassette half-transportersPEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesisAdrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutationsDominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4Murine bubblegum orthologue is a microsomal very long-chain acyl-CoA synthetaseThe ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiaeA close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression patternThe molecular genetics of familial intrahepatic cholestasisAltered expression of ALDP in X-linked adrenoleukodystrophySpectrum of mutations in the gene encoding the adrenoleukodystrophy proteinMutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypesCloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters.ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsAdrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oilA missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophyEvolutionary analyses of ABC transporters of Dictyostelium discoideum.Myelin and disorders that affect the formation and maintenance of this sheath.The role of microglia in human disease: therapeutic tool or target?Lipid traffic: the ABC of transbilayer movement.PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy geneRetroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.Involvement of the carboxyl-terminal region of the yeast peroxisomal half ABC transporter Pxa2p in its interaction with Pxa1p and in transporter function.The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement.Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.A mouse model for X-linked adrenoleukodystrophy.Testosterone-induced effects on lipids and inflammationNeurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.Regulation of ABC transporter function via phosphorylation by protein kinases.X-linked adrenoleukodystrophy: pathogenesis and treatment.Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter.Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.
P2860
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P2860
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
description
1994 nî lūn-bûn
@nan
1994 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@ast
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@en
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@nl
type
label
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@ast
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@en
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@nl
prefLabel
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@ast
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@en
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@nl
P2093
P356
P1476
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
@en
P2093
M E Stoeckel
P304
P356
10.1093/HMG/3.2.265
P407
P577
1994-02-01T00:00:00Z