Varaico: Literature-Extracted Genetic Variants

Gene:DAG1
Variant:p.S654A
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DAG1

NM_004393.6:p.S654A

Associated Papers

Molecular basis of proteolytic cleavage regulation by the extracellular matrix receptor dystroglycan.

Anderson MJM et al.

Structure (london, England : 1993), 2024

Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy.

Sciandra F et al.

Biomed Research International, 2015

Dystroglycan is associated to the disulfide isomerase ERp57.

Sciandra F et al.

Experimental Cell Research, 2012

Genetic defects in muscular dystrophy.

Chandrasekharan K et al.

Methods in Enzymology, 2010

Nuclear translocation of beta-dystroglycan reveals a distinctive trafficking pattern of autoproteolyzed mucins.

Oppizzi ML et al.

Traffic (copenhagen, Denmark), 2008

SEA domain proteolysis determines the functional composition of dystroglycan.

Akhavan A et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008

Cys669-Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association.

Watanabe N et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2007

The effects of post-translational processing on dystroglycan synthesis and trafficking.

Esapa CT et al.

Febs Letters, 2003

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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."