Results 31 to 40 of about 3,353 (190)
Scientific Reports, 2021 The ABCD1 protein, one of the four ATP-binding cassette (ABC) proteins in subfamily D, is located on the peroxisomal membrane and is involved in the transport of very long chain fatty acid (VLCFA)-CoA into peroxisomes.
Kosuke Kawaguchi +6 more
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Novel ABCD1 mutation detected in a symptomatic female carrier of adrenoleukodystrophy [PDF]
, 2022 X-linked adrenoleukodystrophy (ALD) is a major peroxisomal disorder, in which abnormal accumulation of very long-chain fatty acids (VLCFA) caused by ABCD1 gene mutation results in damage to the peripheral and central nervous system and adrenal gland ...
Fukui, Yusuke +10 more
core +2 more sources
Signal Transduction and Targeted Therapy, 2023 Dysfunctions of ATP-binding cassette, subfamily D, member 1 (ABCD1) cause X-linked adrenoleukodystrophy, a rare neurodegenerative disease that affects all human tissues. Residing in the peroxisome membrane, ABCD1 plays a role in the translocation of very
Chao Xiong +9 more
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ANALYSIS OF THE FAMILY OF A PATIENT WITH X-LINKED ADRENOLEUKODYSTROPHY AND LITERATURE REVIEW [PDF]
精准医学杂志, 2023 Objective To analyze the mutation site in the ATP-binding cassette subfamily D member 1 gene (ABCD1) in the family of a patient with X-linked adrenoleukodystrophy (X-ALD), and to explore the diagnosis, treatment, and prognosis of X-ALD based on the ...
JIANG Jing, JIN Yang, WU Yujiao, LIU Xuewu
doaj +1 more source
Journal of Lipid Research, 2020 X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by deleterious mutations in the ABCD1 gene. The ABCD1 protein transports very long-chain FAs (VLCFAs) from the cytosol into the peroxisome where the VLCFAs are degraded through β ...
Kotaro Hama +6 more
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Nature Communications, 2022 Human ABC transporter ABCD1 transports very long-chain fatty acids from cytosol to peroxisome for βoxidation, dysfunction of which causes the X-ALD. Here, the authors report three structures of ABCD1: the ligand-free, C22:0-CoA- and ATP-bound forms.
Zhi-Peng Chen +8 more
doaj +1 more source
Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy [PDF]
Molecular and Cellular Biology, 2003 Peroxisomal disorders have been associated with malfunction of peroxisomal metabolic pathways, but the pathogenesis of these disorders is largely unknown. X-linked adrenoleukodystrophy (X-ALD) is associated with elevated levels of very-long-chain fatty acids (VLCFA; C(>22:0)) that have been attributed to reduced peroxisomal VLCFA beta-oxidation ...
M C, McGuinness +7 more
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Structural basis of substrate recognition and translocation by human ABCD1 [PDF]
, 2021 Abstract Human ATP-binding cassette (ABC) transporter ABCD1 transports CoA esters of saturated/monounsaturated very long chain fatty acid from cytosol to the peroxisome for β-oxidation. Dysfunction of human ABCD1 usually causes the severe progressive genetic disorder X-linked adrenoleukodystrophy, which eventually affects the adrenal ...
Zhi-Peng Chen +5 more
openaire +1 more source
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene [PDF]
Genes, 2021 Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tests in fibroblasts may help to classify a variant as (likely) benign or pathogenic. We sought to establish reference
Stephanie I. W. van de Stadt +16 more
openaire +5 more sources
Acta Neuropathologica Communications, 2023 X-linked adrenoleukodystrophy (X-ALD), the most frequent, inherited peroxisomal disease, is caused by mutations in the ABCD1 gene encoding a peroxisomal lipid transporter importing very long-chain fatty acids (VLCFAs) from the cytosol into peroxisomes ...
Ksenija Martinović +4 more
doaj +1 more source