The Muscular Dystrophy GeneTMEM5Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

(2016) Guja Astrea et al.   NEUROMUSCULAR DISORDERS

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

(2016) Isabelle Gerin et al.   Nature Communications

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy

(2016) Motoi Kanagawa et al.   Cell Reports

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

(2016) Jeremy L Praissman et al.   eLife

Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression

(2015) Yoshihisa Ohtsuka et al.   Scientific Reports

Glycobiology of  -dystroglycan and muscular dystrophy

(2014) T. Endo   JOURNAL OF BIOCHEMISTRY

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

(2014) Tobias Willer et al.   eLife

B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan

(2014) Jeremy L Praissman et al.   eLife

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

(2013) T. Yoshida-Moriguchi et al.   SCIENCE

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

(2013) L. T. Jae et al.   SCIENCE

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

(2012) Sandrine Vuillaumier-Barrot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

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

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