alpha-Dystroglycanopathies

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• Limb girdle muscular dystrophy 2I Fact Sheet, 2013

• Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report, Henige, 2021

• Urinary titin as a biomaker in Fukuyama congenital muscular dystrophy, Sato, 2021

• The structure of POMGNT2 provides new insights into the mechanism to determine the functional O-mannosylation site on α-dystroglyca, Imae, 2021

• Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant), Gonzales-Perez, 2021

• NAD+ enhances ribitol and ribose rescue of a-dystroglycan functional glycosylation in human FKRP-mutant myotubes, Cordero, 2021

• The Outcomes and Experience of Pregnancy in Limb Girdle Muscular Dystrophy Type R9, Libell, 2021

• POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan, Walimbe, 2020

• Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion, Noor, 2020

• Multifaceted antibodies development against synthetic a-dystroglycan mucin glycopeptide as promising tools for dystroglycanopathies diagnostic, Canassa-DeLeo, 2020

• Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives, Villar Quiles, 2020

• biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 a Therapeutic Approach for a-Dystroglycanopathies, Gumlaw, 2020

• Protein homeostasis in LGMDR9 (LGMD2I) the role of ubiquitin-proteasome and autophagy-lysosmal system, Franekova, 2020

• Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy, Takeshita, 2020

• Fukutin-Related Protein: From Pathology to Treatments, Oritz-Cordero, 2020

• Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related, Libell, 2020

• Genetic Variations and Clinical Spectrum of Dystroglycanopathy in a Large Cohort of Chinese Patients, Song, 2020

• Characteristic Cochlear Hypoplaisa in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in a-Dystroglycan-Related Muscular Disorders, Talenti, 2020

• Profiling of the muscle-specific dystroglycan interctome reveals the role of Hippo signaling in muscular dystrophy and age-dependent muscle atrophy, Yatsenko, 2020

• Phenotypic Spectrum of a-Dystroglycanopathies Associated With the c.919T>A Variant in the FKRP Gene in Humans and Mice, Brown, 2020

• Development of A2G80 peptide-gene complex for target delivery to muscle cells, Nirasawa, 2020

• Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy, Villarreal-mMolina, 2020

• Minimal Consequences of CMAH and DBA/2J Background on a FKRP Deficient Model, Vaubourg, 2020

• Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related, Libell, 2020

• A molecular overview of the primary dystroglycanopathies, 2019

• A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission, Nicolau, 2020

• Further evidence for POMK as candidate gene for WWS with meningoencephalocele, Paul, 2020

• The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes, Mohamadian, 2020

• Mitochondrial dysfunction in skeletal muscle of fukutin deficient mice is resistant to exercise- and AICAR-induced reduce, Southern, 2020

• Motor outcome measures in patients with FKRP mutations, longitudinal follow-up, Gedlinske, 2020

• Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy, Shegetumi, 2020

• Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9, Murphy, 2020

• New MRI Finding in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies, Hirasawa-Inoue, 2020

• Reporting One Very Rare Pathogenic Variation c.1106G>A in POMT2 Gene, Mahjoub, 2020

• Congenital Hearing Impairment Associated With Peripheral Cochlear Nerve Dysmyelination in Glycosylation-Deficient Muscular Dystrophy, Morioka, 2020

• Human Embryos Bodies as a 3D Tissue Model of the Extracellular Matrix and a-Dystroglycanopathies, Nickolls, 2020

• Longitudinal Functional and Imaging Outcome Measures in FKRP Limb-Girdle Muscular Dystrophy, Leung, 2020

• Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants, Okazaki, 2020

• Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I, Azzag, 2020

• FAM3B/PANDER-Like Carbohydrate-Biinding Domain in a Glycosyltransferase, POMGNT1, Manya, 2020

• Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy, Kuwabara, 2020

• Clinical and electrophysiological evaluation of myasthenic features in an alpha-dytroglcycanopathy cohort (FKRP-predominant), Gonzalez-Perez, 2020

• A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy, Saylam, 2020

• Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy, Kuwabara, 2020

• Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene, Svahn, 2019

• Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement, Fu, 2019

• Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB), Arvio, 2019

• Exogenous expression of the glycosyltransferase LARGE1 retores a-dystroglcan matriglycan and laminin binding in rhabdomyosarcoma, Beltran, 2019

• A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients, Song, 2019

• Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure, Ujihara, 2019

• biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for a-Dystroglycanopathies, Gumlaw, 2019

• NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy, Bailey, 2019

• ISPD Overexpression Enhances Ribitol-Induced Glycosylation of a-Dystroglycan in Dystrophic FKRP Mutant Mice, Cataldi, 2019

• Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy, Yamaguchi, 2019

• Soluble Heparin Binding Epidermal Grow Factor-Like Growth Factor Is a Regulator of GALGT2 Expression and GALGT2 Dependent Muscle Neuromuscular Phenotypes, Cramer, 2019

• Muscular, Ocular and Brain Involvement Associated with a DeNovo 11q13.2q14.1 Duplication: Contribution to the DifferentialDiagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy, Villar-Quiles-Rocio, 2019

• Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familia Dandy-Walker formation, Traversa, 2019

• Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related in the dystrophin-glyocoprotein complex, 2019

• Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation, Arora, 2019

• A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of a-dystroglycan, Kim, 2019

• Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement Gene Replacement Therapy, Vannoy, 2019

• Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants, Henriques, 2019

• Demembranated Skeletal and Cardiac Fibers Produce Less Force with Altered Cross-Bridge Kinetics in a Mouse Model for Limb-Girdle Muscular Dystrophy 2i, Fenwick, 2019

• Advances in imaging of brain abnormalities in neuromuscular disease, Angelini, 2019

• Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G, Lee, 2019

• Renal dysfunction is rare in Fukuyama congenital muscular dystrophy, Ishigaki, 2019

• Whole exam sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset of muscular dystrophy dystroglycanopathy, Dai, 2018

• Limb girdle muscular dystrophy due to mutations in POMT2, Oestergaard, 2018

• Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy, Sarkozy, 2018

• Walker-Warburg syndrome, Suthar, 2018

• The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy, Nickolls, 2018

• Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice, Vannoy, 2018

• A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathes, Serafini, 2018

• Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study, Astrea, 2018

• Clinical features and FKRP mutations of congenital muscular dystrophy 1C, Hong, 2018

• National registry of patients with Fukuyama congenital muscular dystrophy in Japan, Ishigaki, 2018

• Ribitol restores functionally glycosylated a-dystroglycan and improves  muscle function in dystrophic FKRP-mutant mice, Cataldi, 2018

• Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness, Johnson, 2018

• Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report, Fecarotta 

• A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy, Zaum, 2018

• Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy, Chen, 2018

• Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo-mouse model of FKRP-deficient muscular dystrophy, Yu, 2018

• B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss, Al Dhaibani, 2018

• Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein, Bouchet-Seraphin, 2018

• Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy, Wu, 2018

• Untangling the Complexity of Limb-girdle Muscular Dystrophies, Liewluck, 2018

• Ribitol-phosphate-a newly identified post translational glycosylation unit in mammals: structure, modification enzymes, and relationship to human disease, Kanagawa, 2018

• Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes, Haro, 2018

• Distinct expression of functionally glycoslated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice, Blaeser, 2018

• The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis, Magri, 2017

• Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy, Kanagawa, 2017

• Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene, Vannoy, 2017

• Spinal correction in patients with Fukuyama congenital muscular dystrophy, Saito, 2017

• Mutations in GMPPB Presenting with Pseudometabolic Myopathy, Panicucci, 2017

• Evaluation of the effect of a flexed Neo cassette within the dystroglycan (Daq1) gene, Sciandra, 2017

• Congenital Muscular Dystrophies and Myopathies: An Overview and Update, Schorling, 2017​

• aDystroglycan hypoglycosylation affects cell migration by influencing B-dystroglycan membrane clustering and filopodia length: a multiscale confocal microscopy analysis, Palmieri, 2017​

• Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases, Navarro-Cobos, 2017

• 3D structural analysis of protein O-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy, Nagae, 2017​

• B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy dystroglycanopathies, Maroofian, 2017

• Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan, Manya, 2017

• Comprehensive target capture/next generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan, Liang, 2017

• Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan, Kobayashi, 2017

• Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-Related Protein and rescues disease phenotype in murine model of Limb-Girdle Muscular Dystrophy Type 2I, Frattini, 2017

• Structural flexibility of human a-dystroglycan, Covaceuszach, 2017

• Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations, Balcin, 2017

• Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated a-dystroglycan levels in patients homozygous for common FKRP mutation, Alhamidi, 2017

• ISPD produces CDPribitol used by FKTN and FKRP to transfer ribitol phosphate onto αdystroglycan, Gerin, 2016

• Central†Nervous†Involvement†in†Patients†with†Fukuyama†Congenital Muscular†Dystrophy, Ishigaki, 2016

• Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i, Maricelli, 2016

• B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I, Thomas, 2016

• Evidence of early defects in Cajal Retzius cell localisation during brain development in a mouse model of dystroglycanopathy, Booler, 2016

• The gross motor function measure is valid for Fukuyama congenital muscular dystrophy, Sato, 2016

• B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I, Thomas, 2016

• Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I, Brun, 2016​

• Prenatal muscle development in a mouse model for the secondary dystroglycanopathies, Kim, 2016

• POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy, Endo, 2015

• Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement, Ceyhan-Birsoy, 2015