Article
Functional analysis of an R311C variant of Ca2+ -calmodulin-dependent protein kinase kinase-2 (CaMKK2) found as a de novo mutation in a patient with bipolar disorder.
Bipolar disorders - 1 Dec 2020
Xy Ling Naomi, Langendorf Christopher G, Hoque Ashfaqul, Galic Sandra, Loh Kim, Kemp Bruce E, Gundlach Andrew L, Oakhill Jonathan S, Scott John W
Abstract excerpt
OBJECTIVES: Loss-of-function mutations in the gene encoding the calcium-calmodulin (Ca2+ -CaM)-dependent protein kinase kinase-2 (CaMKK2) enzyme are linked to bipolar disorder. Recently, a de novo arginine to cysteine (R311C) mutation in CaMKK2 was identified from a whole exome sequencing study of bipolar patients and their unaffected parents. The aim of the present study was to determine the functional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.