Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies - Wikidata - wikimedia - TriplyDB

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

http://www.wikidata.org/entity/Q34766986

about

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.Dasatinib as a treatment for Duchenne muscular dystrophy POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations NAD+ biosynthesis ameliorates a zebrafish model of muscular dystrophy.Caspase-12 ablation preserves muscle function in the mdx mouse.Zebrafish based small molecule screens for novel DMD drugs.Zebrafish models flex their muscles to shed light on muscular dystrophies.Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy."Casting" light on the role of glycosylation during embryonic development: insights from zebrafish.Identification of novel MYO18A interaction partners required for myoblast adhesion and muscle integrity.Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish.Endoplasmic Reticulum Oxidative Stress Triggers Tgf-Beta-Dependent Muscle Dysfunction by Accelerating Ascorbic Acid Turnover.Neuromuscular disorders in zebrafish: state of the art and future perspectives.Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates.The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.Recent advancements in understanding mammalian O-mannosylation.Tmem2 regulates cell-matrix interactions that are essential for muscle fiber attachment Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands Influenza A Virus Infection Damages Zebrafish Skeletal Muscle and Exacerbates Disease in Zebrafish Modeling Duchenne Muscular Dystrophy.A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies

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Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

http://www.wikidata.org/entity/Q34766986

description

2011 nî lūn-bûn

@nan

2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

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name

Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

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Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

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Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

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type

label

Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

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Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

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Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

@nl

prefLabel

Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

@ast

Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

@en

Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

@nl

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Human Molecular Genetics

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Zebrafish Fukutin family prote ...... onse with dystroglycanopathies

@en

P2093

Francesco Muntoni

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

Richard J White

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

Sebahattin Cirak

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

Silvia Torelli

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

P2860

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

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

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

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy.

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1763-1775

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scholarly article

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10.1093/HMG/DDR059

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9

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20

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Derek L Stemple

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2011-02-11T00:00:00Z

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49832294

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21317159

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3071672

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