Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R280C
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ABCD1

NM_000033.4:p.R280C

Associated Papers

Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.

Xiong C et al.

Signal Transduction and Targeted Therapy, 2023

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

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.

Burton BK et al.

International Journal of Neonatal Screening, 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

Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.

Kawaguchi K et al.

Chemical & Pharmaceutical Bulletin, 2022

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.

Matteson J et al.

International Journal of Neonatal Screening, 2021

33920672 (PubMed )
Supplement: IJNS-07-00022-s001.zip › IJNS-1144684-SI.xlsx › Supplemental_Table_-_Variants

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

Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.

Bhat M et al.

Neurology India, 0

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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."