LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. - Wikidata - wikimedia - TriplyDB

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

http://www.wikidata.org/entity/Q47375901

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O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression Developmental and pathogenic mechanisms of basement membrane assembly Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy Mammalian O-mannosylation: unsolved questions of structure/function O-Mannosylation and human disease Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies A 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 Overexpression LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy Brain alpha-dystroglycan displays unique glycoepitopes and preferential binding to laminin-10/11 LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2 Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan Fer kinase regulates cell migration through α-dystroglycan glycosylation The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition Dystroglycan mediates homeostatic synaptic plasticity at GABAergic synapses Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle The dystroglycanopathies: the new disorders of O-linked glycosylation Large induces functional glycans in an O-mannosylation dependent manner and targets GlcNAc terminals on alpha-dystroglycan LARGE expression augments the glycosylation of glycoproteins in addition to α-dystroglycan conferring laminin binding.Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.New dystrophin/dystroglycan interactors control neuron behavior in Drosophila eye.O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.Posttranslational modification of alpha-dystroglycan, the cellular receptor for arenaviruses, by the glycosyltransferase LARGE is critical for virus binding.Differential glycosylation of α-dystroglycan and proteins other than α-dystroglycan by like-glycosyltransferase Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.High throughput screening for compounds that alter muscle cell glycosylation identifies new role for N-glycans in regulating sarcolemmal protein abundance and laminin binding Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate transfer regulates laminin-binding glycans on α-dystroglycan.The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy.

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LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

http://www.wikidata.org/entity/Q47375901

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2004 nî lūn-bûn

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2004年の論文

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年學術文章

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2004年學術文章

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name

LARGE can functionally bypass ...... ngenital muscular dystrophies.

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LARGE can functionally bypass ...... ngenital muscular dystrophies.

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type

label

LARGE can functionally bypass ...... ngenital muscular dystrophies.

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LARGE can functionally bypass ...... ngenital muscular dystrophies.

@nl

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LARGE can functionally bypass ...... ngenital muscular dystrophies.

@en

LARGE can functionally bypass ...... ngenital muscular dystrophies.

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Nature Medicine

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LARGE can functionally bypass ...... ongenital muscular dystrophies

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P2093

Daniel E Michele

http://www.w3.org/2001/XMLSchema#string

Harry Schachter

http://www.w3.org/2001/XMLSchema#string

Hollie A Harper

http://www.w3.org/2001/XMLSchema#string

Jakob S Satz

http://www.w3.org/2001/XMLSchema#string

Motoi Kanagawa

http://www.w3.org/2001/XMLSchema#string

Rita Barresi

http://www.w3.org/2001/XMLSchema#string

Ronald D Cohn

http://www.w3.org/2001/XMLSchema#string

Sherri A Dovico

http://www.w3.org/2001/XMLSchema#string

Wenli Zhang

http://www.w3.org/2001/XMLSchema#string

P2860

The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

The Fukuyama congenital muscular dystrophy story

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

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696-703

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10.1038/NM1059

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7

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10

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Kevin P Campbell

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2004-06-06T00:00:00Z

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8521976

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15184894

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