Browsing Centre for Genomics and Child Health by Subject "Zebrafish"
Now showing items 1-2 of 2
-
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 ... -
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 ...