scholarly article | Q13442814 |
P50 | author | Stephen J. Gould | Q60728625 |
P2093 | author name string | P A Watkins | |
H W Moser | |||
A B Moser | |||
M A Smith | |||
F Kok | |||
L T Braiterman | |||
H M Wei | |||
K D Smith | |||
P2860 | cites work | Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters | Q24321939 |
Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold | Q24556499 | ||
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene | Q24628731 | ||
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein | Q24672329 | ||
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4 | Q25938983 | ||
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy | Q28237129 | ||
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein | Q28243537 | ||
Point mutations in two conserved glycine residues within the integral membrane protein FhuB affect iron(III) hydroxamate transport | Q28250223 | ||
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes | Q28304894 | ||
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD) | Q28306915 | ||
Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy | Q33655555 | ||
Fluorescence detection in automated DNA sequence analysis. | Q34050536 | ||
Bacterial binding protein-dependent permeases: characterization of distinctive signatures for functionally related integral cytoplasmic membrane proteins | Q34323929 | ||
Firefly luciferase is targeted to peroxisomes in mammalian cells | Q34623298 | ||
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids | Q34716419 | ||
A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase | Q35933078 | ||
Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins | Q36222397 | ||
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy | Q36265198 | ||
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation | Q41561280 | ||
Subcellular distribution of enzymes determined by rapid digitonin fractionation of isolated hepatocytes | Q41991886 | ||
Rapid and reliable fluorescent cycle sequencing of double-stranded templates | Q43552004 | ||
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations | Q48080771 | ||
Fatty acid abnormality in adrenoleukodystrophy | Q48394754 | ||
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts | Q61822513 | ||
Distinct long chain and very long chain fatty acyl CoA synthetases in rat liver peroxisomes and microsomes | Q67967052 | ||
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 acids | Q68406529 | ||
Very long chain fatty acid beta-oxidation by rat liver mitochondria and peroxisomes | Q68530281 | ||
A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy | Q72498391 | ||
Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy | Q72748110 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | X-linked adrenoleukodystrophy | Q366964 |
P304 | page(s) | 292-301 | |
P577 | publication date | 1995-08-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Altered expression of ALDP in X-linked adrenoleukodystrophy | |
P478 | volume | 57 |
Q27929863 | A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters |
Q36566796 | A mouse model for X-linked adrenoleukodystrophy |
Q74536525 | A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation |
Q41245901 | ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy |
Q34323595 | Activation of the stress proteome as a mechanism for small molecule therapeutics |
Q38867787 | Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history |
Q97074418 | Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor |
Q28609727 | Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules |
Q24561872 | Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders |
Q35886142 | Discovery of regulatory elements in human ATP-binding cassette transporters through expression quantitative trait mapping. |
Q90379387 | Lipids in the Physiopathology of Hereditary Spastic Paraplegias |
Q35636076 | Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. |
Q35882708 | Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy |
Q37035100 | Mutations in the Arabidopsis peroxisomal ABC transporter COMATOSE allow differentiation between multiple functions in planta: insights from an allelic series. |
Q81342480 | Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis |
Q73112978 | Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts |
Q40849176 | Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and mice |
Q36749885 | The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family |
Q24613957 | The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders |
Q55044750 | The fatty acid transport protein (FATP) family: very long chain acyl-CoA synthetases or solute carriers? |
Q28534769 | Very long-chain acyl-CoA synthetase 3: overexpression and growth dependence in lung cancer |
Q36316914 | X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy |
Q33607735 | X-linked adrenoleukodystrophy: genes, mutations, and phenotypes |
Q47757824 | X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods |
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