Article
Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors.
Journal of proteome research - 4 Jun 2021
Uribe Mary Luz, Martín-Nieto José, Quereda Cristina, Rubio-Fernández Marcos, Cruces Jesús, Janssen George M C, de Ru Arnoud H, van Veelen Peter A, Hensbergen Paul J
Abstract excerpt
Mutations in the POMT1 gene, encoding a protein O-mannosyltransferase essential for α-dystroglycan (α-DG) glycosylation, are frequently observed in a group of rare congenital muscular dystrophies, collectively known as dystroglycanopathies. However, it is hitherto unclear whether the effects seen in affected patients can be fully ascribed to α-DG hypoglycosylation. To study this, here we used comparative mass...
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