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)

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)

The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35 known causative genes cause impaired neuromuscular transmission at the NMJ, resulti...

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Bibliographic Details
Main Authors: Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O’Connor, Daniel O’Neil, Andreas Roos, Sally Spendiff, Hanns Lochmüller
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:Biomolecules
Subjects:
glutamine-fructose-6-phosphate transaminase 1 (Gfpt1)
congenital myasthenic syndrome (CMS)
neuromuscular junction (NMJ)
O-GlcNAcylation
acetylcholine receptor delta subunit (AChRδ)
glycosylation
Online Access:https://www.mdpi.com/2218-273X/14/10/1252
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