Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L654P
Back to variants list

ABCD1

NM_000033.4:p.L654P

Associated Papers

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

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

Dong B et al.

International Journal of Endocrinology, 2022

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.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

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.

Schackmann MJ et al.

Molecular Genetics and Metabolism, 2016

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

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Kemp S et al.

Human Mutation, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."