Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

@article{Shen2011FunctionalCA,
  title={Functional consequences and structural interpretation of mutations of human choline acetyltransferase.},
  author={X Shen and Thomas O. Crawford and Joan M. Brengman and Gyula Acsadi and Susan Iannaconne and E Ozkan Karaca and Chaouky Khoury and Jean Kit-Wah Mah and Shimon Edvardson and Zeljko Bajzer and David Rodgers and Andrew Geddes Engel},
  journal={Human mutation},
  year={2011},
  volume={32 11},
  pages={1259-67}
}
Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons. Mutations in CHAT cause potentially lethal congenital myasthenic syndromes associated with episodic apnea (ChAT-CMS). Here, we analyze the functional consequences of 12 missense and one nonsense mutations of CHAT in 11 patients. Nine of the mutations are novel. We examine expression of the recombinant missense mutants in Bosc 23 cells, determine their… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 10 extracted citations

Similar Papers

Loading similar papers…