Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle - Wikidata - wikimedia - TriplyDB

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

http://www.wikidata.org/entity/Q33784310

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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan 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 Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.Poloxamer [corrected] 188 has a deleterious effect on dystrophic skeletal muscle function.Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.Understanding human glycosylation disorders: biochemistry leads the charge.Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.The ever-expanding spectrum of congenital muscular dystrophies.Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.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.Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice.The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.Recent advancements in understanding mammalian O-mannosylation.Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.

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Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

http://www.wikidata.org/entity/Q33784310

description

2010 nî lūn-bûn

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2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Transgenic overexpression of L ...... in skeletal and cardiac muscle

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Transgenic overexpression of L ...... in skeletal and cardiac muscle

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type

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Transgenic overexpression of L ...... in skeletal and cardiac muscle

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Transgenic overexpression of L ...... in skeletal and cardiac muscle

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Transgenic overexpression of L ...... in skeletal and cardiac muscle

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Transgenic overexpression of L ...... in skeletal and cardiac muscle

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JOURNAL.PONE.0014434

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Transgenic overexpression of L ...... in skeletal and cardiac muscle

@en

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Francesco Muntoni

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

Ke Liu

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Martin Brockington

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Paul S Sharp

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Sebahattin Cirak

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Silvia Torelli

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Susan C Brown

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P2860

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

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

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

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

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Efficient selection for high-expression transfectants with a novel eukaryotic vector

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

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e14434

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scholarly article

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10.1371/JOURNAL.PONE.0014434

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Dominic J Wells

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2010-12-28T00:00:00Z

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49726179

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