Results 1 to 10 of about 7,333,851 (157)

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy [PDF]

The Application of Clinical Genetics, 2022
Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower limb weakness ...
Lauren T Shapiro
exaly   +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.
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

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.
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   +8 more sources

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population [PDF]

Frontiers in Neurology, 2023
Background As a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN.
Tianwen Huang, Zhang-Yu Zou, Qinyong Ye   +2 more
exaly   +6 more sources

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy. [PDF]

Int J Mol Sci, 2023
X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 (ABCD1) gene located on the X-chromosome.
Dohr KA, Tokic S, Gastager-Ehgartner M, Stojakovic T, Dumic M, Plecko B, Dumic KK.   +6 more
europepmc   +3 more sources

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature. [PDF]

Int J Endocrinol, 2022
Background. X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene.
Dong B, Dong B, Lv W, Xu L, Zhao Y, Sun X, Wang Z, Cheng B, Fu Z, Wang Y.   +9 more
europepmc   +3 more sources

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

BMC Neurol, 2015
International audienceAbstractBackgroundX-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the
Karkar A, Barakat A, Bakhchane A, Fettah H, Slassi I, Dorboz I, Boespflug-Tanguy O, Nadifi S.   +7 more
europepmc   +3 more sources

A Chinese X-Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation-A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD ...
Zhang FQ, Zhang Z, Wang D, Yang Y, Li X.
europepmc   +2 more sources

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
ABSTRACT Newborn screening (NBS) for X‐linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline‐elevated C26:0‐lysophosphatidylcholine (LPC(26:0 ...
Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S.   +17 more
europepmc   +2 more sources

Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives. [PDF]

Biomedicines
Gene replacement using adeno-associated viral (AAV) vectors has become a major therapeutic avenue for neurodegenerative diseases (NDD). In single-gene diseases with loss-of-function mutations, the objective of gene therapy is to express therapeutic ...
Bougnères P, Le Stunff C, Aron Badin R.
europepmc   +2 more sources