Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
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Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseaseCongenital myopathies: an updateRespiratory assessment in centronuclear myopathiesApproach to the diagnosis of congenital myopathiesPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusCalcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubesRyanodine receptor channelopathies.SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyThe I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy.Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutantsExome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibilitySpecial article: Future directions in malignant hyperthermia research and patient careType 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype.Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout miceMice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damageOxidative stress and successful antioxidant treatment in models of RYR1-related myopathyNovel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Core myopathies and malignant hyperthermia susceptibility: a review.The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?Potassium dependent rescue of a myopathy with core-like structures in mouse.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Physiology and pathophysiology of excitation-contraction coupling: the functional role of ryanodine receptor.Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.Ryanodine receptors
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P2860
Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 December 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Ca2+ dysregulation in Ryr1(I48 ...... ores, cores, and nemaline rods
@en
Ca2+ dysregulation in Ryr1(I48 ...... res, cores, and nemaline rods.
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type
label
Ca2+ dysregulation in Ryr1(I48 ...... ores, cores, and nemaline rods
@en
Ca2+ dysregulation in Ryr1(I48 ...... res, cores, and nemaline rods.
@nl
prefLabel
Ca2+ dysregulation in Ryr1(I48 ...... ores, cores, and nemaline rods
@en
Ca2+ dysregulation in Ryr1(I48 ...... res, cores, and nemaline rods.
@nl
P2093
P2860
P356
P1476
Ca2+ dysregulation in Ryr1(I48 ...... ores, cores, and nemaline rods
@en
P2093
A Russell Tupling
Alexander Kraev
Christine E Seidman
David H MacLennan
Douglas Holmyard
Elena Zvaritch
Eric Bombardier
Frederic Depreux
J G Seidman
Natasha Kraeva
P2860
P304
21813-21818
P356
10.1073/PNAS.0912126106
P407
P577
2009-12-03T00:00:00Z