A common group of muscular dystrophies is associated with the aberrant glycosylation of α-
dystroglycan. These clinically heterogeneous disorders, collectively termed …

Protein O-mannosylation is an essential modification in fungi and animals. Different from
most other types of O-glycosylation, protein O-mannosylation is initiated in the endoplasmic …

Objective: Facioscapulohumeral muscular dystrophy (FSHD) is associated with D4Z4 repeat
contraction on human chromosome 4q35. This genetic lesion does not result in complete …

Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated
genes in the human genome, is an ideal approach to studying fully penetrant autosomal …

The post-translational glycosylation of select proteins by O-linked mannose (O-mannose or
O-man) is a conserved modification from yeast to humans and has been shown to be …

Two known zebrafish dystrophin mutants, sapje and sapje-like (sap c/100), represent
excellent small-animal models of human muscular dystrophy. Using these dystrophin-null …

The emergence of zebrafish Danio rerio as a versatile model organism provides the unique
opportunity to monitor the functions of glycosylation throughout vertebrate embryogenesis …

Dystroglycan is a cell membrane protein that binds to the extracellular matrix in a variety of
mammalian tissues. The α-subunit of dystroglycan (αDG) is heavily glycosylated, including a …

Improved understanding of the molecular bases of dystroglycanopathies will lead to more
precise diagnosis and genetic counseling; therapeutic strategies are being developed and …

Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle
and are characterized by progressive muscle degeneration and weakening. To develop …