Results 141 to 150 of about 1,568 (176)

Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV

Mammalian Genome, 2004
The original publication can be found at www.springerlink.comComparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive ...
David L Adelson, Matthew M Binns, James R Mickelson   +2 more
exaly   +5 more sources

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

Muscle and Nerve, 2008
Adult polyglucosan body disease (APBD) is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems.
Roberto Massa, Claudio Bruno, Alessandro Martorana   +2 more
exaly   +6 more sources

Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma [PDF]

Signal Transduction and Targeted Therapy, 2020
AbstractHypoxia mediates a metabolic switch from oxidative phosphorylation to glycolysis and increases glycogen synthesis. We previously found that glycogen branching enzyme (GBE1) is downstream of the hypoxia-inducible factor-1 (HIF1) signaling pathway in lung adenocarcinoma (LUAD) cells; however, the molecular mechanism underlying HIF1 regulation of ...
Lifeng Li, Zhirui Fan, Wenhua Xue
exaly   +3 more sources

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A family study implicates GBE1 in the etiology of autism spectrum disorder

Human Mutation, 2021
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of ...
Miriam Fanjul‐Fernández, Natasha J. Brown, Peter Hickey, Peter Diakumis, Haloom Rafehi, Kiymet Bozaoglu, Cherie C. Green, Audrey Rattray, Savannah Young, Dana Alhuzaimi, Hayley S. Mountford, Greta Gillies, Vesna Lukic, Tanya Vick, Keri Finlay, Bradley P. Coe, Evan E. Eichler, Martin B. Delatycki, Sarah J. Wilson, Melanie Bahlo, Ingrid E. Scheffer, Paul J. Lockhart   +21 more
openaire   +3 more sources

Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation

Neurological Sciences, 2021
Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder starting after 40 years old, spastic paraparesis and peripheral neuropathy. It is mainly resultant from the GBE1 homozygous p.Tyr329Ser (c.986A>C) mutation, especially in Ashkenazi-Jewish patients, although some cases of compound ...
Andreia Carvalho, Joana Nunes, Ricardo Taipa, Manuel Melo Pires, Jorge Pinto Basto, Pedro Barros   +5 more
openaire   +2 more sources

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Neuromuscular Disorders, 2013
The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) in glycogen branching enzyme 1 (GBE1).
Gianina Ravenscroft, Elizabeth M Thompson, Kathryn Friend   +2 more
exaly   +4 more sources

A novel GBE1 gene variant in a child with glycogen storage disease type IV

Human Pathology, 2016
Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system.
Samar M, Said, Marine I, Murphree, Taofic, Mounajjed, Mounif, El-Youssef, Lizhi, Zhang   +4 more
openaire   +2 more sources

A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation

Journal of Child Neurology, 2008
Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype of glycogen storage disease type IV who presented with ...
G Praveen, Raju, Hsin-Chang, Li, Deeksha S, Bali, Yuan-Tsong, Chen, David K, Urion, Hart G W, Lidov, Peter B, Kang   +6 more
openaire   +2 more sources

GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes

Journal of Inherited Metabolic Disease, 2020
AbstractAdult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants inGBE1gene, resulting in deficiency of glycogen‐branching enzyme and secondary storage of glycogen in the form of polyglucosan bodies, involving the skeletal muscle ...
Paulo Victor Sgobbi Souza, Bruno Mattos Lombardi Badia, Igor Braga Farias, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Hasan Orhan Akman, Salvatore DiMauro   +6 more
openaire   +2 more sources

Non‐lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations

Muscle & Nerve, 2009
AbstractWe report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c.563A>C) and a severe mutation in intron 5 (c.691+2T>C). We propose that the genotype and the quality of
Carla, Fernandez, Cécile, Halbert, André Maues, De Paula, Valerié, Lacroze, Roseline, Froissart, Dominique, Figarella-Branger, Brigitte, Chabrol, Jean-François, Pellissier   +7 more
openaire   +2 more sources