ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

scientific article

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1005695013
P356DOI10.1007/BF01799844
P698PubMed publication ID8892025

P2093author name stringR J Wanders
B M van Geel
P G Barth
P A Mooyer
P A Bolhuis
S Kemp
J L Mandel
P Aubourg
P2860cites workPutative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transportersQ24321939
Altered expression of ALDP in X-linked adrenoleukodystrophyQ24671055
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinQ24672329
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndromeQ28207783
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophyQ28237129
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane proteinQ28243537
The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamilyQ28255277
Adrenoleukodystrophy: phenotypic variability and implications for therapyQ35848823
Two intronic mutations in the adrenoleukodystrophy geneQ48075859
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutationsQ48080771
Penetrating the peroxisomeQ59072832
Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophyQ67986208
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disordersQ69001835
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndromeQ70069331
Identification of female carriers of adrenoleukodystrophyQ71769644
The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane proteinQ72430225
Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twinsQ72903023
Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblastsQ73117534
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)667-674
P577publication date1996-01-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
P478volume19

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cites work (P2860)
Q38867787Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history
Q97074418Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Q36315284Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
Q33948568Disorders related to peroxisomal membranes
Q38331491Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.
Q34196103Human peroxisomal disorders
Q77596072Lipid metabolism in peroxisomes in relation to human disease
Q92035350Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose
Q53994537Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Q33544235The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder
Q46981518Uptake and metabolism of plasma-derived erucic acid by rat brain
Q36316914X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
Q43448425X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Q33607735X-linked adrenoleukodystrophy: genes, mutations, and phenotypes
Q47757824X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods
Q38239213X-linked adrenoleukodystrophy: pathogenesis and treatment.
Q44516117X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds

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