Results 151 to 160 of about 1,568 (176)

Molecular identification, sequence analyses, tissue expression profile of a novel cattle gene-GBE1 in Yunnan cattle

Journal of Animal and Feed Sciences, 2008
G Y Liu
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GBE1 alleviates MPTP-induced PD symptoms in mice by enhancing glycolysis and oxidative phosphorylation

Brain Research
In Parkinson's disease (PD), the disturbance of energy metabolism due to glucose metabolic reprogramming may be a critical factor contributing to neuronal degeneration and death. Glycolysis, as the core process of glucose metabolism, not only serves as a fundamental source of energy but also integrates various metabolic pathways.
Hao Ding, Dongya Huang
exaly   +3 more sources

Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses

Cytogenetic and Genome Research, 2003
Comparative biochemical and histopathological data suggest that a deficiency in the glycogen branching enzyme (GBE) is responsible for a fatal neonatal disease in Quarter Horse foals that closely resembles human glycogen storage disease type IV (GSD IV). Identification of DNA markers closely linked to the equine GBE1 gene would assist us in determining
Ward, T.L., Valberg, S.J., Lear, T.L., Guérin, Gérard, Milenkovic, Dragan, Swinburne, J.E., Binns, M.M., Raudsepp, T., Skow, L., Chowdhary, B.P., Mickelson, J.R.   +10 more
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Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP‐43 inclusions and ageing‐related tau astrogliopathy in a family with a GBE1 mutation

Neuropathology and Applied Neurobiology, 2023
Abstract Aims Adult polyglucosan body disease (APBD) is a progressive neurogenetic disorder caused by 1,4‐alpha‐glucan branching enzyme 1 ( GBE1 ) mutation with an accumulation of polyglucosan bodies (PBs) in the central and ...
Maiko T. Uemura, Eun Ran Suh, John L. Robinson, Kurt R. Brunden, Murray Grossman, David J. Irwin, Virginia M.‐Y. Lee, John Q. Trojanowski, Edward B. Lee, Vivianna M. Van Deerlin   +9 more
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Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease

Muscle & Nerve, 2016
ABSTRACTIntroduction: Adult polyglucosan body disease (APBD) is associated with formation of polyglucosan bodies in peripheral nerve branches. Some muscle biopsies show these inclusions in intramuscular nerve branches. It has not been established whether the presence of multiple polyglucosan bodies in intramuscular peripheral nerve branches could or ...
Larissa V, Furtado, Sabah, Kadri, Michelle N, Wurst, Bradley C, Long, Jeremy P, Segal, Peter, Pytel   +5 more
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Copy Number Variation in the GBE1 Gene is not the Cause of Adult Polyglucosan Body Disease in a Symptomatic Heterozygote. (P05.031)

Neurology, 2012
Objective: To determine whether DNA copy number variation in the GBE1 gene can contribute to the molecular pathogenesis of Adult Polyglucosan Body Disease (APBD). Background APBD is a progressive neurodegenerative disorder with onset after the fifth decade characterized by gait ataxia, spastic paraplegia, posterior column sensory loss, bladder ...
B. Fogel, P. Botros
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Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation

Pediatric and Developmental Pathology, 2016
A 29-year-old primigravida presented with a spontaneous miscarriage at 8 weeks of gestation. There was no consanguinity in the family. Aspiration was performed. Pathological examination showed immature villi with numerous slightly yellow intracytoplasmic inclusions within the early implantation stage cytotrophoblastic cells.
Linda, Dainese, Nicolas, Adam, Sabah, Boudjemaa, Kamel, Hadid, Jonathan, Rosenblatt, Jean-Marie, Jouannic, Delphine, Heron, Roseline, Froissart, Aurore, Coulomb   +8 more
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Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review

Human Pathology, 2012
Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement.
Pilar L, Magoulas, Ayman W, El-Hattab, Angshumoy, Roy, Deeksha S, Bali, Milton J, Finegold, William J, Craigen   +5 more
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Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV

Clinical Dysmorphology, 2019
Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype.
Amita Moirangthem, Shalini S Nayak, Anju Shukla   +2 more
exaly   +3 more sources

The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background

Biochemical and Biophysical Research Communications, 2012
Mutations of the glycogen branching enzyme gene, GBE1, result in glycogen storage disease (GSD) type IV, an autosomal recessive disorder having multiple clinical forms. One mutant allele of this gene, GBE1 c.1076A>C, has been reported in Ashkenazi Jewish cases of an adult-onset form of GSD type IV, adult polyglucosan body disease (APBD), but no ...
Abrar, Hussain, Joy, Armistead, Lara, Gushulak, Christa, Kruck, Steven, Pind, Barbara, Triggs-Raine, Marvin R, Natowicz   +6 more
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