Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Mutations in genes encoding ChAT affecting motility exist in Caenorhabditis elegans and Drosophila, but no CHAT mutations have been observed in...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Ohno, Kinji, Tsujino, Akira, Brengman, Joan M., Harper, C. Michel, Bajzer, Zeljko, Udd, Bjarne, Beyring, Roger, Robb, Stephanie, Kirkham, Fenella J., Engel, Andrew G.
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences 2001
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC29374/
https://ncbi.nlm.nih.gov/pubmed/11172068
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky