The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy

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

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

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

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

Laminin-211 in skeletal muscle function

(2013) Johan Holmberg et al.   Cell Adhesion & Migration

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

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

Laminin-111 Protein Therapy Reduces Muscle Pathology and Improves Viability of a Mouse Model of Merosin-Deficient Congenital Muscular Dystrophy

(2012) Jachinta E. Rooney et al.   AMERICAN JOURNAL OF PATHOLOGY

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

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

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

Upregulation of brain utrophin does not rescue behavioral alterations in dystrophin-deficient mice

(2012) Caroline Perronnet 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

High Throughput Screening for Compounds That Alter Muscle Cell Glycosylation Identifies New Role forN-Glycans in Regulating Sarcolemmal Protein Abundance and Laminin Binding

(2012) Paula V. Cabrera et al.   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

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

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

Distinct contributions of Galgt1 and Galgt2 to carbohydrate expression and function at the mouse neuromuscular junction

(2012) Neha Singhal et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Hsp72 preserves muscle function and slows progression of severe muscular dystrophy

(2012) Stefan M. Gehrig et al.   NATURE

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

Gene therapy for muscular dystrophy: Lessons learned and path forward

(2012) Jerry R. Mendell et al.   NEUROSCIENCE LETTERS

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy

(2012) G. C. Kendall et al.   Science Translational Medicine

Tadalafil Alleviates Muscle Ischemia in Patients with Becker Muscular Dystrophy

(2012) E. A. Martin et al.   Science Translational Medicine

Protein Folding and Modification in the Mammalian Endoplasmic Reticulum

(2011) Ineke Braakman et al.   Annual Review of Biochemistry

Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice

(2011) M. H. Kim et al.   HUMAN MOLECULAR GENETICS

Therapeutic approaches to muscular dystrophy

(2011) A. Goyenvalle et al.   HUMAN MOLECULAR GENETICS

β1D chain increases α7β1 integrin and laminin and protects against sarcolemmal damage in mdx mice

(2011) Jianming Liu et al.   HUMAN MOLECULAR GENETICS

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

(2011) Tayebeh Soheili et al.   HUMAN MUTATION

Inhibition of Endoplasmic Reticulum-associated Degradation Rescues Native Folding in Loss of Function Protein Misfolding Diseases

(2011) Fan Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Daily Treatment with SMTC1100, a Novel Small Molecule Utrophin Upregulator, Dramatically Reduces the Dystrophic Symptoms in the mdx Mouse

(2011) Jonathon M. Tinsley 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

Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies

(2011) Kinga I Gawlik et al.   Skeletal Muscle

Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D

(2010) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Comparative Cardiac Gene Delivery of Adeno-Associated Virus Serotypes 1-9 reveals that AAV6 Mediates the Most Efficient Transduction in Mouse Heart

(2010) Carmela Zincarelli et al.   CTS-Clinical and Translational Science

Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin

(2010) D. Li et al.   JOURNAL OF CELL SCIENCE

CT-GalNAc transferase overexpression in adult mice is associated with extrasynaptic utrophin in skeletal muscle fibres

(2010) Margaret Durko et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones

(2010) W. C. Lee et al.   JOURNAL OF NEUROSCIENCE

Laminin-111: A Potential Therapeutic Agent for Duchenne Muscular Dystrophy

(2010) Sébastien Goudenege et al.   MOLECULAR THERAPY

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

Dystrophin Immunity in Duchenne's Muscular Dystrophy

(2010) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in mdx mice

(2010) A. R. Amenta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Overexpression of Galgt2 Reduces Dystrophic Pathology in the Skeletal Muscles of Alpha Sarcoglycan-Deficient Mice

(2009) Rui Xu et al.   AMERICAN JOURNAL OF PATHOLOGY

Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy

(2009) Yi Lai et al.   JOURNAL OF CLINICAL INVESTIGATION

Dystrophin and utrophin have distinct effects on the structural dynamics of actin

(2009) E. Prochniewicz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of  -dystroglycan

(2009) R. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy

(2009) J. E. Rooney et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Laminin-111 Restores Regenerative Capacity in a Mouse Model for α7 Integrin Congenital Myopathy

(2008) Jachinta E. Rooney et al.   AMERICAN JOURNAL OF PATHOLOGY

Elevation in heat shock protein 72 mRNA following contractions in isolated single skeletal muscle fibers

(2008) Creed M. Stary et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Syncoilin, an intermediate filament-like protein linked to the dystrophin associated protein complex in skeletal muscle

(2008) C. Moorwood   CELLULAR AND MOLECULAR LIFE SCIENCES

Myogenic Akt signaling upregulates the utrophin–glycoprotein complex and promotes sarcolemma stability in muscular dystrophy

(2008) Angela K. Peter et al.   HUMAN MOLECULAR GENETICS

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

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

Integrin-linked kinase - essential roles in physiology and cancer biology

(2008) P. C. McDonald et al.   JOURNAL OF CELL SCIENCE

Lobeline effects on tonic and methamphetamine-induced dopamine release

(2007) Clare J. Wilhelm et al.   BIOCHEMICAL PHARMACOLOGY