Results 91 to 100 of about 3,353 (190)

A review of genetic modification for ex vivo cellular therapies

Transfusion, Volume 66, Issue S2, Page S45-S57, September 2026.
Anh Dinh, Nan Zhang, David Stroncek
wiley   +1 more source

S149R, a novel mutation in theABCD1gene causing X-linked adrenoleukodystrophy

Oncotarget, 2017
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids.
Yan, Fang, Wang, Wenbo, Ying, Hui, Li, Hongyu, Chen, Jing, Xu, Chao   +5 more
openaire   +3 more sources

The role of ABCD1 in peroxisomal beta oxidation

, 2013
Die X-chromosomal vererbte Adrenoleukodystrophie (X-ALD) ist die am weitesten verbreitete peroxisomale Stoffwechselerkrankung und wird durch Mutationen im Gen ABCD1 verursacht.
Wiesinger, Christoph
core  

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

Transport mechanism of acyl-CoA into peroxisomes by a peroxisomal ABC transporter, ABCD1

, 2016
Transport mechanism of acyl-CoA into peroxisomes by a peroxisomal ABC protein, ABCD1\ud \ud \ud \ud ABCD1, belonging to the ABC protein subfamily D, is aperoxisomal membrane protein and involves in the transport of very long chain fatty acid ...
Agustina, Rina
core  

Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions [PDF]

, 2015
X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder resulting from defective ABCD1 transport protein. ABCD1 mediates peroxisomal uptake of free very-long-chain fatty acids (VLCFA) as well as their CoA-esters.
Pujol, Aurora, Schönfeld, Peter, Reiser, Georg, Kruska, Nicol   +3 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

In silico analysis of non-synonymous single nucleotide polymorphisms of human ABCD1 gene associated with adrenoleukodystrophy

Egyptian Journal of Medical Human Genetics
Background The ABCD1 gene is a part of the ABC transporter family that encodes proteins involved in lipid and metabolite transport. Numerous non-synonymous single nucleotide polymorphisms (nsSNPs) have been identified within the coding region of the ...
R. Reshmi, Devinder Kaur
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

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening

This case presentation outlines the occurrence of primary adrenal insufficiency secondary to ATP binding cassette subfamily D member 1 (ABCD1) mutation in a man in his 40s following a genetic screening test performed after a diagnosis of X-linked ...
George, Antony Mosses, Chacko James, Jovito, Mukunda, Athira, Jacob, Rhea   +3 more
core   +1 more source