Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies

(2010) Yiumo Michael Chan et al.   HUMAN MOLECULAR GENETICS

O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding

(2010) T. Yoshida-Moriguchi et al.   SCIENCE

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies

(2009) M. R. Ackroyd et al.   BRAIN

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice

(2008) Kazuhiro Kobuke et al.   HUMAN MOLECULAR GENETICS

Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation

(2008) Marc Bartoli et al.   HUMAN MOLECULAR GENETICS

Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation

(2008) Shigeru Sato et al.   NATURE NEUROSCIENCE