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Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferasePikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpressionPost-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localizationMammalian O-mannosylation: unsolved questions of structure/functionA targeted glycan-related gene screen reveals heparan sulfate proteoglycan sulfation regulates WNT and BMP trans-synaptic signalingCongenital muscular dystrophies: a brief reviewAGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycanMetabolic manipulation of glycosylation disorders in humans and animal modelsCardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycanThe zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscleLimb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies.Muscle-Eye-Brain disease.Dystroglycan controls signaling of multiple hormones through modulation of STAT5 activity.Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate transfer regulates laminin-binding glycans on α-dystroglycan.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 abnormalitiesQuantitative T2 combined with texture analysis of nuclear magnetic resonance images identify different degrees of muscle involvement in three mouse models of muscle dystrophy: mdx, Largemyd and mdx/Largemyd.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Two opposing roles of O-glycans in tumor metastasis.Ultrafast and high-throughput N-glycan analysis for monoclonal antibodies.The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Understanding human glycosylation disorders: biochemistry leads the charge.Animal models of muscular dystrophyCongenital protein hypoglycosylation diseases.N-glycosylation requirements in neuromuscular synaptogenesis.Gene therapy for muscular dystrophy: current progress and future prospects.Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases.Golgi glycosylation and human inherited diseases.The dystrophin-glycoprotein complex in the prevention of muscle damage.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.A novel case of 'muscle eye brain disease' in an immigrant family in India.Tmem2 regulates cell-matrix interactions that are essential for muscle fiber attachmentThe attachment disorders of muscle: failure to carb-loadDystroglycan is associated to the disulfide isomerase ERp57.Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Muscular dystrophies due to glycosylation defects.
@en
Muscular dystrophies due to glycosylation defects.
@nl
type
label
Muscular dystrophies due to glycosylation defects.
@en
Muscular dystrophies due to glycosylation defects.
@nl
prefLabel
Muscular dystrophies due to glycosylation defects.
@en
Muscular dystrophies due to glycosylation defects.
@nl
P2093
P2860
P1433
P1476
Muscular dystrophies due to glycosylation defects.
@en
P2093
Francesco Muntoni
Martin Brockington
Silvia Torelli
P2860
P2888
P304
P356
10.1016/J.NURT.2008.08.005
P577
2008-10-01T00:00:00Z
P5875
P6179
1021805073