Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes
Brittany F. Karas, Kristin R. Terez, Shorbon Mowla, Namarata Battula, Kyle P. Flannery, Brian M. Gural, Grace Aboussleman, Numa Mubin, M. Chiara Manzini
This study shows that removing pomt1 in zebrafish leads to dystroglycanopathy phenotypes, including muscle disease and retinal defects, and highlights the role of maternal pomt1 mRNA in development.
Human Molecular Genetics · Jan 25, 2024Peer-reviewedNeuroscience