O-Mannosylation and human disease

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

RPTPζ/phosphacan is abnormally glycosylated in a model of muscle–eye–brain disease lacking functional POMGnT1

(2012) C.A. Dwyer et al.   NEUROSCIENCE

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Glycomic Analyses of Mouse Models of Congenital Muscular Dystrophy

(2011) Stephanie H. Stalnaker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synthetic, Structural, and Biosynthetic Studies of an Unusual Phospho-Glycopeptide Derived from α-Dystroglycan

(2011) Kai-For Mo et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

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

Characterization of site-specific O-glycan structures within the mucin-like domain of α-dystroglycan from human skeletal muscle

(2010) Johanna Nilsson et al.   GLYCOBIOLOGY

Site Mapping and Characterization ofO-Glycan Structures on α-Dystroglycan Isolated from Rabbit Skeletal Muscle

(2010) Stephanie H. Stalnaker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

(2010) Uluc Yis et al.   NEUROMUSCULAR DISORDERS

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

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

Abnormal glycosylation of dystroglycan in human genetic disease

(2009) Jane E. Hewitt   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mutational and functional analysis of Large in a novel CHO glycosylation mutant

(2009) Jennifer T Aguilan et al.   GLYCOBIOLOGY

Loss of α-Dystroglycan Laminin Binding in Epithelium-derived Cancers Is Caused by Silencing ofLARGE

(2009) Daniel Beltrán-Valero de Bernabé et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional UDP-xylose Transport across the Endoplasmic Reticulum/Golgi Membrane in a Chinese Hamster Ovary Cell Mutant Defective in UDP-xylose Synthase

(2008) Hans Bakker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro

(2008) Yuko Miyagoe-Suzuki et al.   MECHANISMS OF DEVELOPMENT