Missense mutation (C667F) in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization

• Published in: Disease models & mechanisms
• Main Authors: Tan, Rui Lois, Sciandra, Francesca, Hübner, Wolfgang, Bozzi, Manuela, Reimann, Jens, Schoch, Susanne, Brancaccio, Andrea, Blaess, Sandra
• Format: Journal Article
• Language: English
• Published: England 15.04.2024
• Subjects: Aquaporin 4; Dystroglycan; Missense mutation; Blood-brain barrier; Dystroglycanopathies; Myopathy

Dystroglycan (DG) is an extracellular matrix receptor consisting of an α- and a β-DG subunit encoded by the DAG1 gene. The homozygous mutation (c.2006G>T, p.Cys669Phe) in β-DG causes Muscle-Eye-Brain disease with multicystic leukodystrophy in humans. In a mouse model of this primary dystroglycano...