Dystroglycan: from biosynthesis to pathogenesis of human disease.
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionDystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGEEndogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesB4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycanThe glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylationNuclear translocation of beta-dystroglycan reveals a distinctive trafficking pattern of autoproteolyzed mucinsTumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferaseISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeSGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan functionA comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityMouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophyVisual impairment in the absence of dystroglycanPost-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localizationFurther evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardationFounder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesEthnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastNative functionality and therapeutic targeting of arenaviral glycoproteinsPolarity in mammalian epithelial morphogenesisA developmental and genetic classification for malformations of cortical development: update 2012Mammalian O-mannosylation: unsolved questions of structure/functionO-Mannosylation and human diseaseDistinct roles for laminin globular domains in laminin alpha1 chain mediated rescue of murine laminin alpha2 chain deficiencyEndocytic trafficking of laminin is controlled by dystroglycan and is disrupted in cancers.Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaCell specific post-translational processing of pikachurin, a protein involved in retinal synaptogenesisGolgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?Destabilization of the dystrophin-glycoprotein complex without functional deficits in alpha-dystrobrevin null muscleAutosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationA 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 OverexpressionAGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycanThe Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary DystroglycanopathyStretch-induced activation of AMP kinase in the lung requires dystroglycanBrain alpha-dystroglycan displays unique glycoepitopes and preferential binding to laminin-10/11Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complexXylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2Dystroglycan organizes axon guidance cue localization and axonal pathfindingAbl family tyrosine kinases are essential for basement membrane integrity and cortical lamination in the cerebellumA POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.The conserved WW-domain binding sites in Dystroglycan C-terminus are essential but partially redundant for Dystroglycan functionA putative Src homology 3 domain binding motif but not the C-terminal dystrophin WW domain binding motif is required for dystroglycan function in cellular polarity in Drosophila.
P2860
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P2860
Dystroglycan: from biosynthesis to pathogenesis of human disease.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
Dystroglycan: from biosynthesis to pathogenesis of human disease.
@ast
Dystroglycan: from biosynthesis to pathogenesis of human disease.
@en
type
label
Dystroglycan: from biosynthesis to pathogenesis of human disease.
@ast
Dystroglycan: from biosynthesis to pathogenesis of human disease.
@en
prefLabel
Dystroglycan: from biosynthesis to pathogenesis of human disease.
@ast
Dystroglycan: from biosynthesis to pathogenesis of human disease.
@en
P356
P1476
Dystroglycan: from biosynthesis to pathogenesis of human disease
@en
P2093
Rita Barresi
P304
P356
10.1242/JCS.02814
P407
P577
2006-01-01T00:00:00Z