Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. - Wikidata - awgldk - TriplyDB

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

http://www.wikidata.org/entity/Q51935097

about

Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction Rescue of functional delF508-CFTR channels in cystic fibrosis epithelial cells by the alpha-glucosidase inhibitor miglustat Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex LGMD2I in a North American population The dystroglycanopathies: the new disorders of O-linked glycosylation Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.Calnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.The congenital muscular dystrophies: recent advances and molecular insights.Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan.Muscular dystrophies due to defective glycosylation of dystroglycan.Muscular dystrophies due to glycosylation defects.Naturally occurring plant polyphenols as potential therapies for inherited neuromuscular diseases.The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.Calnexin improves the folding efficiency of mutant rhodopsin in the presence of pharmacological chaperone 11-cis-retinal.N-Methyl-D-aspartate (NMDA) receptor subunit NR1 forms the substrate for oligomeric assembly of the NMDA receptor.Probing the oligomeric state and interaction surfaces of Fukutin-I in dilauroylphosphatidylcholine bilayers.Stability and membrane orientation of the fukutin transmembrane domain: a combined multiscale molecular dynamics and circular dichroism study.A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice.

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P2860

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

http://www.wikidata.org/entity/Q51935097

description

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

@zh-hans

2004年学术文章

@zh-my

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

Fukutin-related protein mutati ...... ant protein in cultured cells.

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Fukutin-related protein mutati ...... ant protein in cultured cells.

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type

label

Fukutin-related protein mutati ...... ant protein in cultured cells.

@en

Fukutin-related protein mutati ...... ant protein in cultured cells.

@nl

prefLabel

Fukutin-related protein mutati ...... ant protein in cultured cells.

@en

Fukutin-related protein mutati ...... ant protein in cultured cells.

@nl

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Human Molecular Genetics

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Fukutin-related protein mutati ...... ant protein in cultured cells.

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P2093

Christopher T Esapa

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

Derek J Blake

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

R A Jeffrey McIlhinney

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

P2860

Subcellular localization of fukutin and fukutin-related protein in muscle cells

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

Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

Biological roles of oligosaccharides: all of the theories are correct

Intracellular functions of N-linked glycans

Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

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295-305

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scholarly article

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10.1093/HMG/DDI026

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2

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14

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2004-12-01T00:00:00Z

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8154091

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15574464

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