Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.D194H
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ABCD1

NM_000033.4:p.D194H

Associated Papers

Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study.

Haschka T et al.

Frontiers in Molecular Biosciences, 2024

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.

Gupta AO et al.

Expert Opinion on Biological Therapy, 2022

Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.

Chen ZP et al.

Nature Communications, 2022

35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.

Raas Q et al.

The Journal of Clinical Investigation, 2021

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.

van de Beek MC et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Predictive Structure and Topology of Peroxisomal ATP-Binding Cassette (ABC) Transporters.

Andreoletti P et al.

International Journal of Molecular Sciences, 2017

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.

Zhang X et al.

The Biochemical Journal, 2011

A novel cell model to study the function of the adrenoleukodystrophy-related protein.

Gueugnon F et al.

Biochemical and Biophysical Research Communications, 2006

Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.

Unterrainer G et al.

Human Molecular Genetics, 2000

Mutational analysis of X-linked adrenoleukodystrophy gene.

Takano H et al.

Cell Biochemistry and Biophysics, 2000

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Smith KD et al.

Neurochemical Research, 1999

Mutations in the adrenoleukodystrophy gene.

Dodd A et al.

Human Mutation, 1997

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

Ligtenberg MJ et al.

American Journal of Human Genetics, 1995

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."