Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
about
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in humanThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyPrecise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular DystrophyPartial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.Different outcome of sarcoglycan missense mutation between human and mouse.Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D.Biochemical and pathological changes result from mutated Caveolin-3 in muscle
P2860
Q24307681-F7C14C54-F8CA-4EAE-BE3D-B07D6BFB1A8CQ26827638-FDCDF6F6-37AE-4D26-BC94-330FC27DB620Q36951286-E6237E75-4853-454B-BA1D-38D29255F94FQ37215141-8B49ED4E-4B3B-491B-9927-280D75AE4B17Q40941851-1CB51A7B-7F66-499C-8E72-D4D46BE9117CQ41878236-C33A0F53-2C5B-4B20-9EF5-8B7FAB0E751DQ47405948-141B9F6D-1A19-4FBE-B233-90668C51E97DQ48184096-B63BADE9-DF7F-4AD0-A422-5B0BD061C02AQ48530686-F8915009-CBC4-43BE-BDF4-FF51EC1559A9Q57134351-28028BC1-422E-4D57-8E75-0FECD765D99A
P2860
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին 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
@wuu
name
Rescue of sarcoglycan mutation ...... imal structural modifications.
@ast
Rescue of sarcoglycan mutation ...... imal structural modifications.
@en
Rescue of sarcoglycan mutation ...... imal structural modifications.
@nl
type
label
Rescue of sarcoglycan mutation ...... imal structural modifications.
@ast
Rescue of sarcoglycan mutation ...... imal structural modifications.
@en
Rescue of sarcoglycan mutation ...... imal structural modifications.
@nl
prefLabel
Rescue of sarcoglycan mutation ...... imal structural modifications.
@ast
Rescue of sarcoglycan mutation ...... imal structural modifications.
@en
Rescue of sarcoglycan mutation ...... imal structural modifications.
@nl
P2093
P2860
P356
P1433
P1476
Rescue of sarcoglycan mutation ...... imal structural modifications.
@en
P2093
Evelyne Gicquel
Florence Le Roy
Isabelle Richard
Jérôme Poupiot
Luu N'Guyen
P2860
P304
P356
10.1002/HUMU.21659
P577
2011-12-22T00:00:00Z