glycogenin

involved in glycogen biosynthesis; Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself; reaction is UDP-glucose + glycogenin = UDP + glucosylglycogenin; RefSeq NM_004130 (human); NM_013755 (mouse); NM_031043 (rat)

Also Known As:

Networked: 26 relevant articles (0 outcomes, 3 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Oldfors, Anders: 7 articles (01/2022 - 04/2012)
2.	Malfatti, Edoardo: 5 articles (01/2022 - 12/2014)
3.	Hedberg-Oldfors, Carola: 5 articles (01/2020 - 12/2014)
4.	Romero, Norma B: 3 articles (01/2018 - 12/2014)
5.	Kalev, Ognian: 2 articles (01/2022 - 12/2019)
6.	Thomsen, Christer: 2 articles (01/2022 - 01/2020)
7.	Laforêt, Pascal: 2 articles (09/2020 - 01/2018)
8.	Glamuzina, Emma: 2 articles (01/2020 - 01/2017)
9.	Hernandez-Lain, Aurelio: 2 articles (01/2020 - 12/2014)
10.	Kornblum, Cornelia: 2 articles (01/2020 - 12/2014)

Related Diseases

1.	Muscular Diseases (Myopathy) 03/01/2018 - "In this study, we investigated the etiology and pathogenesis of a late-onset myopathy associated with glycogenin-1 deficiency. " 12/01/2019 - "Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency." 10/01/2015 - "We report a glycogenin-1 related myopathy with a distinct histopathology and unique muscle imaging pattern. " 09/01/2020 - "Mutations in glycogenin-1 (GYG1) cause an adult-onset polyglucosan body myopathy. " 01/01/2016 - "Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation."
2.	Glycogen Storage Disease (Glycogenosis) 12/01/2014 - "A new muscle glycogen storage disease associated with glycogenin-1 deficiency." 04/01/2012 - "Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation." 02/03/2012 - "Structural and biochemical insight into glycogenin inactivation by the glycogenosis-causing T82M mutation." 01/01/2021 - "The glycogenin knockout mouse is a model of Glycogen Storage Disease type XV. These animals show high perinatal mortality (90%) due to respiratory failure. " 01/01/2017 - "Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. "
3.	Lafora Disease 01/01/2022 - "Such diseases include Lafora disease, branching enzyme deficiency, glycogenin-1 deficiency, polyglucosan body myopathy type 1 (PGBM1) due to RBCK1 deficiency and others. " 02/01/2012 - "Significant new developments in eukaryotic glycogen metabolism over the last decade or so include: (i) three-dimensional structures of the biosynthetic enzymes glycogenin and glycogen synthase, with associated implications for mechanism and control; (ii) analyses of several genetically engineered mice with altered glycogen metabolism that shed light on the mechanism of control; (iii) greater appreciation of the spatial aspects of glycogen metabolism, including more focus on the lysosomal degradation of glycogen; and (iv) glycogen phosphorylation and advances in the study of Lafora disease, which is emerging as a glycogen storage disease."
4.	Glycogen Storage Disease Type II (Pompe's Disease) 09/01/2014 - "Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin muscles. " 01/01/2023 - "In this study, performed in mice and patient biopsies, we found elevated protein levels of enzymes involved in glucose uptake and cytoplasmic glycogen synthesis in skeletal muscle from mice with Pompe disease, including glycogenin (GYG1), glycogen synthase (GYS1), glucose transporter 4 (GLUT4), glycogen branching enzyme 1 (GBE1), and UDP-glucose pyrophosphorylase (UGP2). "
5.	Cardiomyopathies (Cardiomyopathy) 01/01/2020 - "However, nonfunctional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations. " 12/01/2019 - "This finding might indicate that the level of p.Asp102His mutated glycogenin-1 determines if a patient will develop a cardiomyopathy." 01/01/2017 - "We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). " 01/01/2017 - "Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature." 01/01/2017 - "Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. "

Related Drugs and Biologics

1.	Glycogen
2.	Glycogen Synthase (Synthase I)
3.	Enzymes
4.	Proteins (Proteins, Gene)
5.	Glucose (Dextrose)
6.	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)
7.	Facilitative Glucose Transport Proteins (Glucose Transporter)
8.	UTP-Glucose-1-Phosphate Uridylyltransferase (UDP Glucose Pyrophosphorylase)
9.	polyglucosan
10.	glycogenin