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)
Stephen Henry Holland(University of Ottawa), Hanns Lochmüller(University of Ottawa)
Cited by 3
Related Papers
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
|The American Journal of Human Genetics|2011|172
Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish
|Human Molecular Genetics|2024|1
Gene-specific response to MuSK agonist antibody in the treatment of Congenital Myasthenic Syndromes
|bioRxiv (Cold Spring Harbor Laboratory)|2025|0