Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
about
Glycogen metabolism in humansMechanisms of Monomeric and Dimeric Glycogenin AutoglucosylationConformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesisStructural and biochemical insight into glycogenin inactivation by the glycogenosis-causing T82M mutationStructural basis for the recruitment of glycogen synthase by glycogeninPolyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Progress and problems in muscle glycogenosesA new muscle glycogen storage disease associated with glycogenin-1 deficiencyLate-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.Glycogen and its metabolism: some new developments and old themes.Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.High-throughput discovery of novel developmental phenotypes.Neuromuscular disorders of glycogen metabolism.GYG1 gene mutations in a family with polyglucosan body myopathy.The investigation and management of metabolic myopathies.Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.A hemizygous GYG2 mutation and Leigh syndrome: a possible link?Glycogen storage disease type XV (GYG1)Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.Defective GYG1 is not autoglucosyolatedAutoglucosylation of GYG1 complexed with GYS1-aAutoglucosylation of GYG1 complexed with GYS1-bNew cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
P2860
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P2860
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
description
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
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im April 2010 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2010/04/01)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/04/01)
@nl
наукова стаття, опублікована у квітні 2010
@uk
مقالة علمية (نشرت في أبريل 2010)
@ar
name
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@ast
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@en
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@nl
type
label
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@ast
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@en
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@nl
prefLabel
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@ast
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@en
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@nl
P2093
P356
P1476
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
@en
P2093
Ali-Reza Moslemi
Anders Oldfors
Bert Andersson
Christopher Lindberg
Homa Tajsharghi
Johanna Nilsson
P304
P356
10.1056/NEJMOA0900661
P407
P577
2010-04-01T00:00:00Z