Chen Q, MÃ¼ller J, Pang P, Laval S, Haslam S, LochmÃ¼ller H, et al. Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1). Biomolecules. 2015;5:2758-81 pubmed publisher
..Therefore, GFPT1 mutations in CMS patients do not appear to compromise global N-glycosylation in muscle cells. ..
Muller J, Jepson C, Laval S, Bushby K, Straub V, Lochmuller H. Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. Hum Mol Genet. 2010;19:1726-40 pubmed publisher
..Our findings in the zebrafish model contribute to a better understanding of the signalling pathways at the NMJ and the pathomechanisms of DOK7 CMSs. ..