Article

A missense mutation (C667F) in β-dystroglycan results in reduced dystroglycan protein levels leading to myopathy and destabilization of the blood-brain and blood-retinal barrier protein network

2023-11-13

Abstract excerpt

Dystroglycan (DG) is a glycoprotein and extracellular matrix receptor consisting of an α-DG and a β-DG subunit encoded by the gene DAG1 . A homozygous missense mutation (c.2006G>T), resulting in an amino acid substitution (p.Cys669Phe) in the extracellular domain of β-DG, causes severe Muscle-Eye-Brain disease with multicystic leukodystrophy. To investigate the mechanisms underlying the severe human pathology, we...

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Literature Corpus work: cbb5d5a9-9bac-5b3c-8789-b2ff284fd22d
DOI: 10.1101/2023.11.10.566559

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