A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

Item
http://www.wikidata.org/entity/Q34254547
Assessment of patients with idiopathic inflammatory myopathies and isolated creatin-kinase elevation.The couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle.Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout miceAntioxidants protect calsequestrin-1 knockout mice from halothane- and heat-induced sudden death.A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate MyopathyCalsequestrin depolymerizes when calcium is depleted in the sarcoplasmic reticulum of working muscle.Is there something fishy about the regulation of the ryanodine receptor in the fish heart?Organization of junctional sarcoplasmic reticulum proteins in skeletal muscle fibers.A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.Excitation-Contraction Coupling Alterations in Myopathies.A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
P2860

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

Item
http://www.wikidata.org/entity/Q34254547
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@ast
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@en
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@nl
type
label
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@ast
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@en
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@nl
prefLabel
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@ast
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@en
A mutation in the CASQ1 gene c ...... reticulum protein aggregates.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A mutation in the CASQ1 gene c ...... c reticulum protein aggregates
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932