Associated Papers
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Visuttijai K et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
Hedberg-Oldfors C et al.
Acta Neurologica Scandinavica, 2018
Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.
Lee JY et al.
Journal of Genetics, 2017
Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.
Luo S et al.
Neuromuscular Disorders : Nmd, 2015
The role of protein structural analysis in the next generation sequencing era.
Yue WW et al.
Topics in Current Chemistry, 2014
Neuromuscular disorders of glycogen metabolism.
Gazzerro E et al.
Current Neurology and Neuroscience Reports, 2013
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.
Nilsson J et al.
Biochimica Et Biophysica Acta, 2012
Structural and biochemical insight into glycogenin inactivation by the glycogenosis-causing T82M mutation.
Carrizo ME et al.
Febs Letters, 2012
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
Moslemi AR et al.
The New England Journal of Medicine, 2010
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