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Disease on EC 2.4.1.186 - glycogenin glucosyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
1,4-alpha-glucan branching enzyme deficiency
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Cardiomyopathies
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Diabetes Mellitus
The role of glycogenin in glycogen synthesis and non-insulin dependent diabetes mellitus.
Diabetes Mellitus, Type 2
Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients.
Glycogen Storage Disease
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
Glycogen and its metabolism: some new developments and old themes.
Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.
Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
Structural and biochemical insight into glycogenin inactivation by the glycogenosis-causing T82M mutation.
Glycogen Storage Disease Type II
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).
glycogenin glucosyltransferase deficiency
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency.
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
HIV Infections
Peripheral blood RNA gene expression in children with pneumococcal meningitis: a prospective case-control study.
Lafora Disease
Glycogen and its metabolism: some new developments and old themes.
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Muscle Weakness
Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.
Muscular Diseases
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
GYG1: A distal myopathy with polyglucosan bodies.
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.
Muscular Dystrophies, Limb-Girdle
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Neoplasms
Metastasis of Uveal Melanoma with Monosomy-3 Is Associated with a Less Glycogenetic Gene Expression Profile and the Dysregulation of Glycogen Storage.
Perinatal Death
Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
Respiratory Distress Syndrome
Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
ring-type e3 ubiquitin transferase deficiency
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Sarcoma, Ewing
Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism.