Finding the Sweet Spot: Assembly and Glycosylation of the Dystrophin-Associated Glycoprotein Complex

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

Adeno-Associated Viral-Mediated LARGE Gene Therapy Rescues the Muscular Dystrophic Phenotype in Mouse Models of Dystroglycanopathy

(2013) Miao Yu et al.   HUMAN GENE THERAPY

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes

(2013) Anthony Blaeser et al.   HUMAN GENETICS

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

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

Inhibition of Coxsackievirus-associated dystrophin cleavage prevents cardiomyopathy

(2013) Byung-Kwan Lim et al.   JOURNAL OF CLINICAL INVESTIGATION

Alterations of dystrophin-associated glycoproteins in the heart lacking dystrophin or dystrophin and utrophin

(2013) Katharine M. Sharpe et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

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

(2013) Matthew M. Goddeeris et al.   NATURE

Identification of New Dystroglycan Complexes in Skeletal Muscle

(2013) Eric K. Johnson et al.   PLoS One

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

Sarcospan: a small protein with large potential for Duchenne muscular dystrophy

(2013) Jamie L Marshall et al.   Skeletal Muscle

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

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

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

Cancer Cachexia: Mediators, Signaling, and Metabolic Pathways

(2012) Kenneth C.H. Fearon et al.   Cell Metabolism

Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice

(2012) Jessica D. Gumerson et al.   HUMAN MOLECULAR GENETICS

Dystrophin and utrophin expression require sarcospan: loss of α7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice

(2012) Jamie L. Marshall et al.   HUMAN MOLECULAR GENETICS

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

Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration

(2012) Jamie L. Marshall et al.   JOURNAL OF CELL BIOLOGY

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

Proteomic Analysis Reveals New Cardiac-Specific Dystrophin-Associated Proteins

(2012) Eric K. Johnson et al.   PLoS One

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Mammalian O-mannosylation: unsolved questions of structure/function

(2011) Stephanie H Stalnaker et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Differential glycosylation of  -dystroglycan and proteins other than  -dystroglycan by like-glycosyltransferase

(2011) P. Zhang et al.   GLYCOBIOLOGY

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

(2011) Alessio Lancioni et al.   HUMAN MOLECULAR GENETICS

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

Age-dependent Dystrophin Loss and Genetic Reconstitution Establish a Molecular Link Between Dystrophin and Heart Performance During Aging

(2011) DeWayne Townsend et al.   MOLECULAR THERAPY

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

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

Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction

(2011) Maisoon Alhamidi et al.   PLoS One

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

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

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

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

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

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

Identification of Sp1 and GC-boxes as transcriptional regulators of mouse Dag1 gene promoter

(2009) Alessandro Rettino et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Dystroglycan Matrix Receptor Function in Cardiac Myocytes Is Important for Limiting Activity-Induced Myocardial Damage

(2009) Daniel E. Michele et al.   CIRCULATION RESEARCH

Dystrophin is a microtubule-associated protein

(2009) Kurt W. Prins et al.   JOURNAL OF CELL BIOLOGY

Alterations in Dystrophin-Related Glycoproteins in Development of Right Ventricular Failure in Rats

(2009) Takuya Daicho et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

(2009) Marta Margeta et al.   MUSCLE & NERVE

An Ankyrin-Based Mechanism for Functional Organization of Dystrophin and Dystroglycan

(2008) Gai Ayalon et al.   CELL

Sarcospan reduces dystrophic pathology: stabilization of the utrophin–glycoprotein complex

(2008) Angela K. Peter et al.   JOURNAL OF CELL BIOLOGY

Destabilization of the Dystrophin-Glycoprotein Complex without Functional Deficits in α-Dystrobrevin Null Muscle

(2008) Tina M. Bunnell et al.   PLoS One