Glycobiology of  -dystroglycan and muscular dystrophy

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

(2013) Elizabeth Stevens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

O-glycosylation of the non-canonical T-cadherin from rabbit skeletal muscle by single mannose residues

(2013) Patrick R. Winterhalter et al.   FEBS LETTERS

Structural and biochemical characterization of O-mannose-linked human natural killer-1 glycan expressed on phosphacan in developing mouse brains

(2013) J. Morise et al.   GLYCOBIOLOGY

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

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

Loss of Branched O-Mannosyl Glycans in Astrocytes Accelerates Remyelination

(2013) K. Kanekiyo et al.   JOURNAL OF NEUROSCIENCE

The Lecticans of Mammalian Brain Perineural Net Are O-Mannosylated

(2013) Sandra Pacharra et al.   JOURNAL OF PROTEOME RESEARCH

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

(2013) Amy C. Yang et al.   MOLECULAR GENETICS AND METABOLISM

LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy

(2013) Matthew M. Goddeeris et al.   NATURE

A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome

(2013) Ranad Shaheen et al.   NEUROGENETICS

Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion

(2013) M. Lommel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins

(2013) M. B. Vester-Christensen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Futile Protein Folding Cycles in the ER Are Terminated by the Unfolded Protein O-Mannosylation Pathway

(2013) C. Xu et al.   SCIENCE

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

O-Mannose and O–N-acetyl galactosamine glycosylation of mammalian α-dystroglycan is conserved in a region-specific manner

(2012) Alejandro Gomez Toledo et al.   GLYCOBIOLOGY

LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE

(2012) A. Ashikov et al.   GLYCOBIOLOGY

Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2

(2012) Kei-ichiro Inamori et al.   GLYCOBIOLOGY

Human Natural Killer-1 Sulfotransferase (HNK-1ST)-induced Sulfate Transfer Regulates Laminin-binding Glycans on α-Dystroglycan

(2012) Naoki Nakagawa 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

Neurofascin 186 Is O-Mannosylated within and Outside of the Mucin Domain

(2012) Sandra Pacharra et al.   JOURNAL OF PROTEOME RESEARCH

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

Dystroglycan Organizes Axon Guidance Cue Localization and Axonal Pathfinding

(2012) Kevin M. Wright et al.   NEURON

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1)

(2011) Keiko Akasaka-Manya et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

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

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

(2011) Dirk J. Lefeber et al.   PLoS Genetics

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

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

Decoding arenavirus pathogenesis: Essential roles for alpha-dystroglycan-virus interactions and the immune response

(2010) Michael B.A. Oldstone et al.   VIROLOGY

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

O-glycosylation pattern of CD24 from mouse brain

(2009) Christina Bleckmann et al.   BIOLOGICAL CHEMISTRY

Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2

(2009) Hiroshi Manya et al.   JOURNAL OF BIOCHEMISTRY

Tumor suppressor function of laminin-binding  -dystroglycan requires a distinct  3-N-acetylglucosaminyltransferase

(2009) X. Bao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) Motoi Kanagawa et al.   HUMAN MOLECULAR GENETICS

Receptor Tyrosine Phosphatase β (RPTPβ) Activity and Signaling Are Attenuated by Glycosylation and Subsequent Cell Surface Galectin-1 Binding

(2008) Karen L. Abbott 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

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

(2008) Shigeru Sato et al.   NATURE NEUROSCIENCE

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

(2007) Hiroshi Manya et al.   NEUROMUSCULAR DISORDERS