Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
about
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Whole genome sequence and analysis of the Marwari horse breed and its genetic originGene expression profiling in equine polysaccharide storage myopathy revealed inflammation, glycogenesis inhibition, hypoxia and mitochondrial dysfunctions.Applied equine genetics.Inborn errors of energy metabolism associated with myopathies.Epidemiology of exertional rhabdomyolysis susceptibility in standardbred horses reveals associated risk factors and underlying enhanced performance.Whole-genome sequencing and genetic variant analysis of a Quarter Horse mareProgress and problems in muscle glycogenosesAllele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1)Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.Equine clinical genomics: A clinician's primer.The Evolutionary Origin and Genetic Makeup of Domestic HorsesLate-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.Genetic mapping of recurrent exertional rhabdomyolysis in a population of North American Thoroughbreds.Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.Evidence of positive selection for a glycogen synthase (GYS1) mutation in domestic horse populations.MicroRNAs in domestic livestock.Epidemiological and genetic study of exertional rhabdomyolysis in a Warmblood horse family in Switzerland.Molecular and functional characterization of glycogen synthase in the porcine satellite cells under insulin treatment.Clinical and histopathological features of myofibrillar myopathy in Warmblood horses.Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes.A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase.Equine rhabdomyolysis.Prevalence of exertional rhabdomyolysis in endurance horses in the Pacific Northwestern United States.A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses.Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage MyopathyAn E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses
P2860
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P2860
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
@ast
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
@en
type
label
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
@ast
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
@en
prefLabel
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
@ast
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
@en
P2093
P2860
P50
P1433
P1476
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis
@en
P2093
Hasan O Akman
Michael B Miller
Salvatore DiMauro
Stephanie J Valberg
P2860
P304
P356
10.1016/J.YGENO.2008.01.011
P577
2008-03-20T00:00:00Z