Results 11 to 20 of about 2,524,227 (174)

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis

Biomolecules, 2023
X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA).
Agnieszka Buda, Sonja Forss-Petter, Rong Hua, Yorrick Jaspers, Mark Lassnig, Petra Waidhofer-Söllner, Stephan Kemp, Peter Kim, Isabelle Weinhofer, Johannes Berger   +9 more
doaj   +4 more sources

ABCD1 Gene Mutations in Chinese Patients with ALD

Pediatric Neurology Briefs, 2005
Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing, PRC.
J Gordon Millichap
doaj   +5 more sources

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling. [PDF]

Case Rep Genet, 2020
Background. The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD).
Richter JE, Vadlamudi C, Macklin SK, Samreen A, Helmi H, Broderick D, Mohammad AN, Hines SL, VanGerpen JA, Atwal PS, Caulfield TR.   +10 more
europepmc   +9 more sources

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene. [PDF]

Genes (Basel), 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
van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S.   +16 more
europepmc   +9 more sources

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Genes and Diseases, 2021
Adrenomyeloneuropathy (AMN) is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed by clinical features, high VLCFAs levels and ABCD1 gene mutation.
Yu Zhang, Guoyong Zhang, Wenhui Chen, Zheng Pu, Lu Song, Xinghua Tang, Zhenguo Liu   +6 more
doaj   +2 more sources

Segmental Optic Atrophy with Adrenoleukodystrophy ABCD1 Gene Variant

International Journal of Medical Science and Clinical Research Studies, 2023
We report a case of Adrenoleukodystrophy ABCD1 gene variant presenting with segmental optic atrophy in a 34-year-old male. The patient presented to our Neuro-Ophthalmology clinic with complaints of defective vision in both eyes, mild headache and gait disturbances. Ocular examination showed best corrected visual acuity of 6/24 in both eyes and fundus
Khishigdelger Erdenechuluun, Sharanya R, Karthik Kumar, Virna Shah   +3 more
openaire   +4 more sources

Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene [PDF]

Annals of Clinical Neurophysiology, 2021
Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder caused by mutations in the gene, ABCD1, causing abnormal accumulation of very-long-chain fatty acids in the nervous system and adrenal glands. There are various clinical manifestations of ALD.
Hye Weon Kim, Hyunjin Kim, Dongyoung Jeong, Kyuyoon Chung, Eun-Jae Lee, Young-Min Lim, Kwang-Kuk Kim   +6 more
openaire   +2 more sources

Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice. [PDF]

PLoS ONE, 2014
The inherited peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), associated with neurodegeneration and inflammatory cerebral demyelination, is caused by mutations in the ABCD1 gene encoding the peroxisomal ATP-binding cassette (ABC) transporter ...
Zahid Muneer, Christoph Wiesinger, Till Voigtländer, Hauke B Werner, Johannes Berger, Sonja Forss-Petter   +5 more
doaj   +2 more sources

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report. [PDF]

BMC Neurol, 2015
La adrenoleucodistrofia ligada al cromosoma X (X-ALD; OMIM: 300100) es la enfermedad peroxisomal más común causada por mutaciones en el casete de unión a ATP, gen del miembro 1 de la subfamilia D o ABCD1 (geneID: 215), el gen codificante de la proteína de la adrenoleucodistrofia (ALDP), que es una proteína de transporte de unión a ATP asociada a un ...
Karkar A, Barakat A, Bakhchane A, Fettah H, Slassi I, Dorboz I, Boespflug-Tanguy O, Nadifi S.   +7 more
europepmc   +7 more sources

Histone deacetylase inhibitor upregulates peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient glial cells. [PDF]

PLoS ONE, 2013
In X-ALD, mutation/deletion of ALD gene (ABCD1) and the resultant very long chain fatty acid (VLCFA) derangement has dramatically opposing effects in astrocytes and oligodendrocytes.
Jaspreet Singh, Mushfiquddin Khan, Aurora Pujol, Mauhamad Baarine, Inderjit Singh   +4 more
doaj   +4 more sources