Related references
Note: Only part of the references are listed.ColabFold: making protein folding accessible to all
Milot Mirdita et al.
NATURE METHODS (2022)
Myocarditis and inflammatory cardiomyopathy: current evidence and future directions
Carsten Tschoepe et al.
NATURE REVIEWS CARDIOLOGY (2021)
Dystroglycanopathy: From Elucidation of Molecular and Pathological Mechanisms to Development of Treatment Methods
Motoi Kanagawa
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy
Terumi Murakami et al.
SCIENTIFIC REPORTS (2021)
A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy
Neha R. Dhoke et al.
CELL REPORTS (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20
Anna Gaertner et al.
HUMAN MUTATION (2020)
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy
Anna Gaertner-Rommel et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Mammalian O-mannosyl glycans: Biochemistry and glycopathology
Tamao Endo
PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES (2019)
Ribitol restores functionally glycosylated alpha-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice
Marcela P. Cataldi et al.
NATURE COMMUNICATIONS (2018)
Recent advancements in understanding mammalian O-mannosylation
M. Osman Sheikh et al.
GLYCOBIOLOGY (2017)
AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression
Evelyne Gicquel et al.
HUMAN MOLECULAR GENETICS (2017)
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation
Baerbel Klauke et al.
PLOS ONE (2017)
Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan
Hiroshi Manya et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2017)
Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation
Bo Wu et al.
AMERICAN JOURNAL OF PATHOLOGY (2016)
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy
Motoi Kanagawa et al.
CELL REPORTS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane
Takako Yoshida-Moriguchi et al.
GLYCOBIOLOGY (2015)
Glycobiology of α-dystroglycan and muscular dystrophy
Tamao Endo
JOURNAL OF BIOCHEMISTRY (2015)
Muscle and Heart Function Restoration in a Limb Girdle Muscular Dystrophy 2I (LGMD2I) Mouse Model by Systemic FKRP Gene Delivery
Chunping Qiao et al.
MOLECULAR THERAPY (2014)
Diagnostic approach to the congenital muscular dystrophies
Carsten G. Boennemann et al.
NEUROMUSCULAR DISORDERS (2014)
Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression
Motoi Kanagawa et al.
HUMAN MOLECULAR GENETICS (2013)
Inherited Cardiomyopathies Molecular Genetics and Clinical Genetic Testing in the Postgenomic Era
Polakit Teekakirikul et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2013)
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Eugenio Mercuri et al.
ANNALS OF NEUROLOGY (2012)
Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies
Tracy A. Lynch et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Dystroglycanopathies: coming into focus
Caroline Godfrey et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
Mariko Taniguchi-Ikeda et al.
NATURE (2011)
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
S. Vuillaumier-Barrot et al.
NEUROMUSCULAR DISORDERS (2009)
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation
Rebecca L. Puckett et al.
NEUROMUSCULAR DISORDERS (2009)
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
Terumi Murakami et al.
ANNALS OF NEUROLOGY (2006)
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
Caroline Godfrey et al.
ANNALS OF NEUROLOGY (2006)
Cardiac involvement in Fukuyama-type congenital muscular dystrophy
Toshio Nakanishi et al.
PEDIATRICS (2006)
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)
JM Liu et al.
MECHANISMS OF DEVELOPMENT (2006)
Dystroglycan: from biosynthesis to pathogenesis of human disease
R Barresi et al.
JOURNAL OF CELL SCIENCE (2006)
The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis
Motoi Kanagawa et al.
JOURNAL OF HUMAN GENETICS (2006)
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG
DS Kim et al.
NEUROLOGY (2004)
A new mutation of the fukutin gene in a non-Japanese patient
F Silan et al.
ANNALS OF NEUROLOGY (2003)
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
DE Michele et al.
NATURE (2002)
Deficiency of α-dystroglycan in muscle-eye-brain disease
H Kano et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)
Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy
YK Hayashi et al.
NEUROLOGY (2001)