Results 61 to 70 of about 3,353 (190)

ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series

Endocrinology, Diabetes & Metabolism Case Reports, 2021
Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired ...
Angelika Mohn, Nella Polidori, Chiara Aiello, Cristiano Rizzo, Cosimo Giannini, Francesco Chiarelli, Marco Cappa   +6 more
doaj   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Retinal neurovascular alterations are associated with optic radiation microstructure in adrenomyeloneuropathy: A susceptibility separation MRI study

VIEW, EarlyView.
In a cross‐sectional cohort of 104 participants, 7 T susceptibility separation MRI and diffusion imaging were combined with retinal imaging and visual evoked potentials to characterize visual pathway involvement in adrenomyeloneuropathy (AMN). Absolute diamagnetic susceptibility, a myelin‐associated measure, and fractional anisotropy (FA) showed ...
Ronghao Li, Jun Li, Chongyi Li, Xingang Wang, Wenyu Zhou, Yangcheng Zou, Zhiming Zhen, Li Xiao, Na Liang, Zongxing Zou, Junru Yang, Hui Yang, Chunhua Fu, Weiqi Chen, Yuyu Chen, Chen Liu, Hongjiang Wei, Liang Tan   +17 more
wiley   +1 more source

Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
William Nkenguye, Mujaheed Suleman, Jay Lodhia   +2 more
wiley   +1 more source

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Cells, 2022
The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids.
Eric J. Mallack, Kerry Gao, Marc Engelen, Stephan Kemp   +3 more
doaj   +1 more source

Possibly early lethal phenotype in Abcd1;CMV-ELOVL1 mice.

, 2016
(A) Distribution of the actual F1 genotypes of 4 independent crosses between Abcd1 knockout females (Abcd1-/-) with males heterozygous for the activated ELOVL1 transgene (CMV-ELOVL1+/-). Males are in blue and females in pink.
Dalia Goldhaber-Pasillas (2636161), Ronald J. A. Wanders (22833), Nicolas Schauer (732947), Inge M. E. Dijkstra (149639), Frédéric M. Vaz (761757), Marc Engelen (149627), Stephan Kemp (149646), Wim Kulik (415179), Rob Ofman (149634), Joo-Yeon Engelen-Lee (2636164), Martin Schackmann (2636155), Henk van Lenthe (800564), Malu-Clair van de Beek (2636158)   +12 more
core   +1 more source

Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Lihong Huang, Peng Cheng, Guangdong Liu, Yang Xiang, Zhen Hong, Weidong Le   +5 more
wiley   +1 more source

β-Oxidation activity for C26∶0 in wild-type, Abcd1-, Abcd2-, and Abcd1/Abcd2 double-deficient mouse peritoneal macrophages.

, 2014
The rates of β-oxidation for radiolabelled C26∶0 and C16∶0 fatty acid substrates were measured in wild-type (WT), Abcd1-deficient (Abcd1 KO), Abcd2-deficient (Abcd2 KO) and Abcd1/Abcd2 double-deficient (DOKO) cell preparations.
Christoph Wiesinger (634568), Till Voigtländer (634569), Johannes Berger (6439), Zahid Muneer (606786), Hauke B. Werner (176255), Sonja Forss-Petter (188101)   +5 more
core   +1 more source

Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

EMBO Molecular Medicine, 2018
The nuclear factor erythroid 2‐like 2 (NRF2) is the master regulator of endogenous antioxidant responses. Oxidative damage is a shared and early‐appearing feature in X‐linked adrenoleukodystrophy (X‐ALD) patients and the mouse model (Abcd1 null mouse ...
Pablo Ranea‐Robles, Nathalie Launay, Montserrat Ruiz, Noel Ylagan Calingasan, Magali Dumont, Alba Naudí, Manuel Portero‐Otín, Reinald Pamplona, Isidre Ferrer, M Flint Beal, Stéphane Fourcade, Aurora Pujol   +11 more
doaj   +1 more source

Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN)

Stem Cell Research, 2017
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene.
Daryeon Son, Zhejiu Quan, Phil Jun Kang, Gyuman Park, Hoon-Chul Kang, Seungkwon You   +5 more
doaj   +1 more source