Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionA comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityA comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscleA Method to Produce and Purify Full-Length Recombinant Alpha Dystroglycan: Analysis of N- and O-Linked Monosaccharide Composition in CHO Cells with or without LARGE OverexpressionIn vitro Differentiation of Functional Human Skeletal Myotubes in a Defined SystemGeneDistiller--distilling candidate genes from linkage intervals.Dystroglycan and mitochondrial ribosomal protein L34 regulate differentiation in the Drosophila eye.Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder.A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophyCongenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junctionUltrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan.Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Processing and assembly of the dystrophin glycoprotein complex.Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.Muscular dystrophies due to defective glycosylation of dystroglycan.Overexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of alpha sarcoglycan-deficient miceGlycosylation diseases: quo vadis?Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypesImplications for the mammalian sialidases in the physiopathology of skeletal muscleDrosophila Dystroglycan is a target of O-mannosyltransferase activity of two protein O-mannosyltransferases, Rotated Abdomen and TwistedMice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.
P2860
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P2860
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
@ast
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
@en
type
label
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
@ast
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
@en
prefLabel
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
@ast
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
@en
P2860
P356
P1476
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
@en
P2093
Paul T Martin
P2860
P2888
P304
P356
10.1038/NCPNEURO0155
P577
2006-04-01T00:00:00Z
P5875
P6179
1042892392