Altered expression of ALDP in X-linked adrenoleukodystrophy

scientific article

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

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P932PMC publication ID1801558
P698PubMed publication ID7668254

P50authorStephen J. GouldQ60728625
P2093author name stringP A Watkins
H W Moser
A B Moser
M A Smith
F Kok
L T Braiterman
H M Wei
K D Smith
P2860cites workPutative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transportersQ24321939
Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding foldQ24556499
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy geneQ24628731
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinQ24672329
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Q25938983
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophyQ28237129
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane proteinQ28243537
Point mutations in two conserved glycine residues within the integral membrane protein FhuB affect iron(III) hydroxamate transportQ28250223
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypesQ28304894
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)Q28306915
Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathyQ33655555
Fluorescence detection in automated DNA sequence analysis.Q34050536
Bacterial binding protein-dependent permeases: characterization of distinctive signatures for functionally related integral cytoplasmic membrane proteinsQ34323929
Firefly luciferase is targeted to peroxisomes in mammalian cellsQ34623298
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acidsQ34716419
A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolaseQ35933078
Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteinsQ36222397
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophyQ36265198
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidationQ41561280
Subcellular distribution of enzymes determined by rapid digitonin fractionation of isolated hepatocytesQ41991886
Rapid and reliable fluorescent cycle sequencing of double-stranded templatesQ43552004
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutationsQ48080771
Fatty acid abnormality in adrenoleukodystrophyQ48394754
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblastsQ61822513
Distinct long chain and very long chain fatty acyl CoA synthetases in rat liver peroxisomes and microsomesQ67967052
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 acidsQ68406529
Very long chain fatty acid beta-oxidation by rat liver mitochondria and peroxisomesQ68530281
A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophyQ72498391
Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophyQ72748110
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectX-linked adrenoleukodystrophyQ366964
P304page(s)292-301
P577publication date1995-08-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleAltered expression of ALDP in X-linked adrenoleukodystrophy
P478volume57

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cites work (P2860)
Q27929863A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters
Q36566796A mouse model for X-linked adrenoleukodystrophy
Q74536525A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation
Q41245901ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy
Q34323595Activation of the stress proteome as a mechanism for small molecule therapeutics
Q38867787Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history
Q97074418Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Q28609727Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules
Q24561872Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
Q35886142Discovery of regulatory elements in human ATP-binding cassette transporters through expression quantitative trait mapping.
Q90379387Lipids in the Physiopathology of Hereditary Spastic Paraplegias
Q35636076Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.
Q35882708Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy
Q37035100Mutations in the Arabidopsis peroxisomal ABC transporter COMATOSE allow differentiation between multiple functions in planta: insights from an allelic series.
Q81342480Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis
Q73112978Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts
Q40849176Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and mice
Q36749885The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family
Q24613957The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Q55044750The fatty acid transport protein (FATP) family: very long chain acyl-CoA synthetases or solute carriers?
Q28534769Very long-chain acyl-CoA synthetase 3: overexpression and growth dependence in lung cancer
Q36316914X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy
Q33607735X-linked adrenoleukodystrophy: genes, mutations, and phenotypes
Q47757824X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods

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