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    GYG1 glycogenin 1 [ Homo sapiens (human) ]

    Gene ID: 2992, updated on 3-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.

    The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.
    Fastman NM, Liu Y, Ramanan V, Merritt H, Ambing E, DePaoli-Roach AA, Roach PJ, Hurley TD, Mellem KT, Ullman JC, Green E, Morgans D Jr, Tzitzilonis C.

    07/16/2022
    Crystal structure and mutational analysis of the human TRIM7 B30.2 domain provide insights into the molecular basis of its binding to glycogenin-1.

    Crystal structure and mutational analysis of the human TRIM7 B30.2 domain provide insights into the molecular basis of its binding to glycogenin-1.
    Muñoz Sosa CJ, Issoglio FM, Carrizo ME., Free PMC Article

    09/4/2021
    Glycogenin is at the core of glycogen's structure and initiates its glucopolymerization.[review]

    From the seminal discovery of proteoglycogen and glycogenin to emerging knowledge and research on glycogen biology.
    Curtino JA, Aon MA.

    07/18/2020
    palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis

    Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.
    Bilyard MK, Bailey HJ, Raich L, Gafitescu MA, Machida T, Iglésias-Fernández J, Lee SS, Spicer CD, Rovira C, Yue WW, Davis BG.

    06/1/2019
    we screened the susceptibility loci for Myocardial infarction (MI) using exome sequencing and validated candidate variants in replication sets. We identified that three genes (GYG1, DIS3L and DDRGK1) were associated with MI at the discovery and replication stages.

    Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.
    Lee JY, Moon S, Kim YK, Lee SH, Lee BS, Park MY, Park JE, Jang Y, Han BG.

    08/4/2018
    We present functional evidence for the pathogenicity of a novel GYG1 missense mutation located in the substrate binding domain.

    Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
    Hedberg-Oldfors C, Mensch A, Visuttijai K, Stoltenburg G, Stoevesandt D, Kraya T, Oldfors A, Zierz S.

    06/30/2018
    This study found a single homozygous intronic mutation of GYG1 harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages.

    Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
    Akman HO, Aykit Y, Amuk OC, Malfatti E, Romero NB, Maioli MA, Piras R, DiMauro S, Marrosu G., Free PMC Article

    10/22/2016
    Depletion of glycogenin-1 and impaired interaction with glycogen synthase underlies a new form of glycogen storage disease.

    A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
    Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A., Free PMC Article

    01/31/2015
    The glucosylation of glycogenin-2 was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1.

    LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.
    Nilsson J, Halim A, Larsson E, Moslemi AR, Oldfors A, Larson G, Nilsson J.

    04/5/2014
    results explain the glycogen depletion in the patient expressing only Thr83Met glycogenin-1 and why heterozygous carriers without clinical symptoms show a small proportion of unglucosylated glycogenin-1

    Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.
    Nilsson J, Halim A, Moslemi AR, Pedersen A, Nilsson J, Larson G, Oldfors A.

    09/29/2012
    during recovery from prolonged exhaustive exercise, glycogenin mRNA and protein content and activity increase in muscle

    Increases in glycogenin and glycogenin mRNA accompany glycogen resynthesis in human skeletal muscle.
    Shearer J, Wilson RJ, Battram DS, Richter EA, Robinson DL, Bakovic M, Graham TE.

    01/21/2010
    GN-1 is conserved, possibly as very small, or nascent, granules when glycogen concentration is low. This would provide the ability to rapidly restore glycogen during early recovery.

    Glycogenin protein and mRNA expression in response to changing glycogen concentration in exercise and recovery.
    Wilson RJ, Gusba JE, Robinson DL, Graham TE.

    01/21/2010
    Results show that glycogenin becomes inactivated with glycogen catabolism and that this event coincides with an increase in glycogenin gene expression as exercise and glycogenolysis progress.

    Glycogenin activity and mRNA expression in response to volitional exhaustion in human skeletal muscle.
    Shearer J, Graham TE, Battram DS, Robinson DL, Richter EA, Wilson RJ, Bakovic M.

    01/21/2010
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