A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).

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作者： Stephen Henry,Holland ^[1] ; Ricardo,Carmona-Martinez ^[2] ; Kaela,O'Connor ^[3] ; Daniel,O'Neil ^[2] ; Andreas,Roos ^[4] ; Sally,Spendiff ^[2] ; Hanns,Lochmüller ^[5]

作者单位： Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.;Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.;Dr. Eric Poulin Center for Neuromuscular Disorders, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 6N5, Canada. ^[1] Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada. ^[2] Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.;Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada. ^[3] Dr. Eric Poulin Center for Neuromuscular Disorders, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 6N5, Canada.;Department of Pediatric Neurology, Center for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.;Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, Germany. ^[4] Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.;Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.;Dr. Eric Poulin Center for Neuromuscular Disorders, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 6N5, Canada.;Faculty of Medicine, Medical Center, University of Freiburg, 79085 Freiburg, Germany.;Centro Nacional de Analisis Genomico (CNAG), 08028 Barcelona, Spain. ^[5]

关键词 O-GlcNAcylation acetylcholine receptor delta subunit (AChRδ)congenital myasthenic syndrome (CMS)glutamine-fructose-6-phosphate transaminase 1 (Gfpt1)glycosylation neuromuscular junction (NMJ)

主题词动物(Animals);小鼠(Mice);谷氨酰胺-果糖-6-磷酸转氨酶(异构)(Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing));糖基化(Glycosylation);小鼠, 基因敲除(Mice, Knockout);肌, 骨骼(Muscle, Skeletal);肌无力综合征, 先天性(Myasthenic Syndromes, Congenital);神经肌肉接头(Neuromuscular Junction);受体, 烟碱(Receptors, Nicotinic)

DOI 10.3390/biom14101252

PMID 39456185

发布时间 2024-11-05

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Biomolecules

2024年14卷10期

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A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).

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A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).

Biomolecules

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Biomolecules

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