Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome.
Ding Q, Shen D, Dai Y, Hu Y, Guan Y, Liu M, Cui L.
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
Ohno K, Brengman J, Tsujino A, Engel AG.
Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9. doi: 10.1073/pnas.95.16.9654.
PMID:9689136
COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA.
Hum Genet. 2014 May;133(5):599-616. doi: 10.1007/s00439-013-1391-3. Epub 2013 Nov 27.
PMID:24281389
Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations.
Ito M, Ohno K.
Matrix Biol. 2018 Aug;68-69:628-636. doi: 10.1016/j.matbio.2018.02.014. Epub 2018 Feb 20.
PMID:29475025
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S, Ohno K.