A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionSkeletal muscle laminin and MDC1A: pathogenesis and treatment strategies.Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanMouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyFurther evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardationDistinct roles for laminin globular domains in laminin alpha1 chain mediated rescue of murine laminin alpha2 chain deficiencyCongenital muscular dystrophies: a brief reviewLARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophyCardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.NAD+ biosynthesis ameliorates a zebrafish model of muscular dystrophy.Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.Muscle-Eye-Brain disease.Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalitiesG-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivoPost-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathiesFlow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.Milder forms of muscular dystrophy associated with POMGNT2 mutations.Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypesCell-matrix interactions in muscle disease.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates.Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The NetherlandsPromoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycanCharacterization of site-specific O-glycan structures within the mucin-like domain of alpha-dystroglycan from human skeletal muscle.Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice.Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice
P2860
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P2860
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
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2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A comparative study of alpha-d ...... rrelate with clinical severity
@ast
A comparative study of alpha-d ...... rrelate with clinical severity
@en
A comparative study of alpha-d ...... rrelate with clinical severity
@en-gb
A comparative study of alpha-d ...... rrelate with clinical severity
@nl
type
label
A comparative study of alpha-d ...... rrelate with clinical severity
@ast
A comparative study of alpha-d ...... rrelate with clinical severity
@en
A comparative study of alpha-d ...... rrelate with clinical severity
@en-gb
A comparative study of alpha-d ...... rrelate with clinical severity
@nl
prefLabel
A comparative study of alpha-d ...... rrelate with clinical severity
@ast
A comparative study of alpha-d ...... rrelate with clinical severity
@en
A comparative study of alpha-d ...... rrelate with clinical severity
@en-gb
A comparative study of alpha-d ...... rrelate with clinical severity
@nl
P2093
P2860
P50
P921
P1433
P1476
A comparative study of alpha-d ...... rrelate with clinical severity
@en
P2093
Anne M Childs
Beril Talim
Caroline A Sewry
Caroline Godfrey
Emma Clement
Helen Roper
Maria Kinali
Rachael Mein
P2860
P304
P356
10.1111/J.1750-3639.2008.00198.X
P407
P577
2009-10-01T00:00:00Z