Department of Biochemistry and Molecular Biology
University of Georgia, Athens
Title: “Congenital Diseases of Unusual O-Glycosylation”
Specific forms of muscular dystrophy and intellectual disability are caused by defects in glycosyltransferases. In this seminar, I will focus on recent discoveries delineating the various enzymes, structures and functions associated with O-mannose modified alpha-dystroglycan that when defective leads to various forms of congenital muscular dystrophy. Further, I’ll discuss our recent work demonstrating that mutations in the gene encoding the O-GlcNAc transferase, which modifies nuclear and cytoplasmic proteins, are causal for X-linked intellectual disability.
Host: Vlad Panin
Location: 108 Biochemistry Building (Bldg#1507)