Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
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trappc11 is required for protein glycosylation in zebrafish and humans.Kelch proteins: emerging roles in skeletal muscle development and diseases.AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycanA POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.The Dystrophin Complex: Structure, Function, and Implications for TherapyDiagnostic approach to the congenital muscular dystrophies.Integrative data mining highlights candidate genes for monogenic myopathies.Biochemical analysis of leishmanial and human GDP-Mannose Pyrophosphorylases and selection of inhibitors as new leads.Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutationsContribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophyMannose metabolism: more than meets the eye.Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American AssoIntrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotypeISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesMutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Milder forms of muscular dystrophy associated with POMGNT2 mutations.Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesA novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateFinding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.Glycobiology of α-dystroglycan and muscular dystrophy.Enzyme complexity in intermediary metabolism.Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Clinical features of the myasthenic syndrome arising from mutations in GMPPB.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice.
P2860
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P2860
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@ast
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@en
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@en-gb
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@nl
type
label
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@ast
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@en
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@en-gb
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@nl
prefLabel
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@ast
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@en
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@en-gb
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@nl
P2093
P2860
P50
P3181
P1476
Mutations in GDP-mannose pyrop ...... lycosylation of α-dystroglycan
@en
P2093
A Reghan Foley
Caroline Sewry
Carsten G Bönnemann
Daniel G MacArthur
Derek L Stemple
Dirk J Lefeber
Elizabeth Stevens
Elizabeth Wraige
Eric Hoffman
Helen K Young
P2860
P3181
P356
10.1016/J.AJHG.2013.05.009
P407
P50
P577
2013-07-11T00:00:00Z