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 consequences of the R311C mutation on CaMKK2 activity and regulation by Ca²⁺‐CaM.

中文翻译：

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Ca2 +-钙调蛋白依赖性蛋白激酶激酶-2（CaMKK2）的R311C变体的功能分析被发现为双相情感障碍患者的从头突变

钙调钙蛋白（Ca ²⁺ -CaM）依赖性蛋白激酶激酶2（CaMKK2）酶编码基因的功能丧失突变与双相情感障碍有关。最近，从双相患者及其未患病父母的全外显子组测序研究中确定了CaMKK2中的从头精氨酸至半胱氨酸突变（R311C）。本研究的目的是确定R311C突变对CaMKK2活性和Ca 2 ⁺ -CaM调控的功能后果。