LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

Nyckelord

Animals

Cytoskeletal Proteins/*metabolism

Dystroglycans

Gene Therapy

Glycosylation

Glycosyltransferases/*deficiency

Humans

Laminin/metabolism

Membrane Glycoproteins/*metabolism

Mice

Muscular Dystrophies/*congenital/genetics/therapy

N-Acetylglucosaminyltransferases/genetics/*physiology

Neoplasm Proteins/genetics/*physiology

Research Support; Non-U.S. Gov't

Research Support; U.S. Gov't; P.H.S.

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)