Results 51 to 60 of about 2,524,227 (174)

Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy

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, Jan Bauer, Markus Kunze, Johannes Berger, Sonja Forss-Petter   +4 more
doaj   +1 more source

Results of computational analysis for missense changes in ABCD1 gene from Argentinean patients.

, 2013
Results of computational analysis for missense changes in ABCD1 gene from Argentinean patients.
Cyntia Anabel Amorosi (290973), Raquel Dodelson de Kremer (147711), Ana María Oller de Ramírez (290982), Carlos Enrique Argaraña (290977), Lenka Dvoráková (5651470), Mariela Roxana Monti (290975), Stephan Kemp (149646), Masashi Morita (290979), Helena Myskóva (290974)   +8 more
core   +1 more source

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

, 2015
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy.
van de Kamp, J.M., Errami, A, Osaka, H, Salomons, GS, Mancini, G.M., Steinberg, S.J., Osaka, H., Winter, S, Winter, S., Phalin-Roque, J, A. Errami, Howidi, M., van Dooren, S.J.M., Howidi, M, Steinberg, SJ, H. Osaka, J.M. van de Kamp, Salomons, G., S.J. Steinberg, I. Anselm, G.M. Mancini, van de Kamp, JM, Verheijen - Mancini, Grazia, Anselm, I., J. Phalin‐Roque, S.J.M. van Dooren, van Dooren, SJM, S. Winter, G.S. Salomons, Errami, A., Phalin-Roque, J., M. Howidi, Anselm, I   +32 more
core   +1 more source

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

Molecular Genetics and Metabolism Reports, 2022
Background: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by variants in the ABCD1 gene and can lead to Addison disease, childhood cerebral ALD, or adrenomyeloneuropathy.
Hui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien   +6 more
doaj   +1 more source

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source

Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness

Journal of Neuroinflammation, 2022
Saturated very long-chain fatty acids (VLCFA, ≥ C22), enriched in brain myelin and innate immune cells, accumulate in X-linked adrenoleukodystrophy (X-ALD) due to inherited dysfunction of the peroxisomal VLCFA transporter ABCD1.
Bettina Zierfuss, Agnieszka Buda, Andrea Villoria-González, Maxime Logist, Jure Fabjan, Patricia Parzer, Claire Battin, Streggi Vandersteene, Inge M. E. Dijkstra, Petra Waidhofer-Söllner, Katharina Grabmeier-Pfistershammer, Peter Steinberger, Stephan Kemp, Sonja Forss-Petter, Johannes Berger, Isabelle Weinhofer   +15 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

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

Additional file 2 of Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy

, 2023
Additional file 2: Figure S1. Old Abcd1 KO mice show no signs of overt pathology in the corpus callosum. Figure S2. Abcd1 KO mice exhibit the expected response to acute cuprizone intoxication. Figure S3.
Johannes Berger (6439), Ksenija Martinović (16389343), Jan Bauer (517032), Sonja Forss-Petter (188101), Markus Kunze (6438)   +4 more
core   +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