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Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
(2011-05-01)
Allelic mutations in putative glycosyltransferase genes, fukutin and fukutin-related protein (fkrp), lead to a wide range of muscular dystrophies associated with hypoglycosylation of α-dystroglycan, commonly referred to ...
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
(2012-05)
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we ...