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

Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of α-Dystroglycan in Cells and Tissues

(2014) Kei-ichiro Inamori et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused byLARGEMutations

(2014) Katherine G. Meilleur et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

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

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

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

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

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

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

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

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

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

(2011) Nigel F Clarke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

(2010) J Van Reeuwijk et al.   CLINICAL GENETICS

Functional Glycosylation of Dystroglycan Is Crucial for Thymocyte Development in the Mouse

(2010) Li-Ying Liou et al.   PLoS One

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

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

Association of  -1,3-N-acetylglucosaminyltransferase 1 and  -1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis

(2009) P. L Lee 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

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

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