Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Q544R
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ABCD1

NM_000033.4:p.Q544R

Associated Papers

Structural and functional insights of the human peroxisomal ABC transporter ALDP.

Jia Y et al.

Elife, 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

Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.

Wang R et al.

Cell Research, 2022

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

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

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

Takahashi N et al.

Journal of Neurochemistry, 2007

[Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].

Takahashi N et al.

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2007

Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.

Gärtner J et al.

Endocrine Research, 2002

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

Smith KD et al.

Neurochemical Research, 1999

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.

Imamura A et al.

Clinical Genetics, 1997

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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."