Functional consequences and structural interpretation of mutations of human choline acetyltransferase
نویسندگان
چکیده
منابع مشابه
Structural insights and functional implications of choline acetyltransferase.
The biosynthetic enzyme for the neurotransmitter acetylcholine, choline acetyltransferase (ChAT) (E.C. 2.3.1.6), is essential for the development and neuronal activities of cholinergic systems involved in many fundamental brain functions. ChAT catalyzes the transfer of an acetyl group from acetyl-coenzyme A to choline to form the neurotransmitter acetylcholine. Since its discovery more than 60 ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2011
ISSN: 1059-7794
DOI: 10.1002/humu.21560