Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionRescue of functional delF508-CFTR channels in cystic fibrosis epithelial cells by the alpha-glucosidase inhibitor miglustatGolgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complexLGMD2I in a North American populationThe dystroglycanopathies: the new disorders of O-linked glycosylationMolecular 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.
P2860
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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.
description
2004 nî lūn-bûn
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name
Fukutin-related protein mutati ...... ant protein in cultured cells.
@en
Fukutin-related protein mutati ...... ant protein in cultured cells.
@nl
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
P2093
P2860
P356
P1476
Fukutin-related protein mutati ...... ant protein in cultured cells.
@en
P2093
Christopher T Esapa
Derek J Blake
R A Jeffrey McIlhinney
P2860
P304
P356
10.1093/HMG/DDI026
P577
2004-12-01T00:00:00Z