Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

TheO-Mannosylation Pathway: Glycosyltransferases and Proteins Implicated in Congenital Muscular Dystrophy

(2013) Lance Wells   JOURNAL OF BIOLOGICAL CHEMISTRY

Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration

(2012) Masaji Tachikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Absence of Post-phosphoryl Modification in Dystroglycanopathy Mouse Models and Wild-type Tissues Expressing Non-laminin Binding Form of α-Dystroglycan

(2012) Atsushi Kuga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy

(2012) Aaron M. Beedle et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

(2012) Tony Roscioli et al.   NATURE GENETICS

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

(2012) Tobias Willer et al.   NATURE GENETICS

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

(2012) M. Pane et al.   NEUROMUSCULAR DISORDERS

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic LargemydMouse

(2012) Jacob Ross et al.   STEM CELLS

Dystroglycanopathies: coming into focus

(2011) Caroline Godfrey et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Hesr1 and Hesr3 are essential to generate undifferentiated quiescent satellite cells and to maintain satellite cell numbers

(2011) S.-i. Fukada et al.   DEVELOPMENT

Improvement of cardiac fibrosis in dystrophic mice by rAAV9-mediated microdystrophin transduction

(2011) J-H Shin et al.   GENE THERAPY

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

(2011) Mariko Taniguchi-Ikeda et al.   NATURE

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

(2011) Yuji Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection

(2011) Y. Hara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Short Telomeres and Stem Cell Exhaustion Model Duchenne Muscular Dystrophy in mdx/mTR Mice

(2010) Alessandra Sacco et al.   CELL

Direct effects of the pathogenic mutation on satellite cell function in muscular dystrophy

(2010) Jennifer E. Morgan et al.   EXPERIMENTAL CELL RESEARCH

Post-translational Maturation of Dystroglycan Is Necessary for Pikachurin Binding and Ribbon Synaptic Localization

(2010) Motoi Kanagawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

LG4-5 domains of laminin-211 binds α-Dystroglycan to allow myotube attachment and prevent anoikis

(2009) Jesus Munoz et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Different autonomous myogenic cell populations revealed by ablation of Myf5-expressing cells during mouse embryogenesis

(2008) N. Gensch et al.   DEVELOPMENT

Suppression of macrophage functions impairs skeletal muscle regeneration with severe fibrosis

(2008) M SEGAWA et al.   EXPERIMENTAL CELL RESEARCH

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy

(2008) Motoi Kanagawa et al.   HUMAN MOLECULAR GENETICS