Ontology highlight
ABSTRACT:
SUBMITTER: Lin YY
PROVIDER: S-EPMC3071672 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Lin Yung-Yao YY White Richard J RJ Torelli Silvia S Cirak Sebahattin S Muntoni Francesco F Stemple Derek L DL
Human molecular genetics 20110211 9
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 as dystroglycanopathies. Defective glycosylation affecting dystroglycan-ligand interactions is considered to underlie the disease pathogenesis. We have modelled dystroglycanopathies in zebrafish using a novel loss-of-function dystroglycan allele and by inhibition of Fukutin famil ...[more]