A bipolar disorder-associated missense variant alters adenylyl cyclase 2 activity and promotes mania-like behavior.

doi:10.1038/s41380-024-02663-w

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Article

A bipolar disorder-associated missense variant alters adenylyl cyclase 2 activity and promotes mania-like behavior.

Molecular psychiatry - 1 Jan 2025

Sen Paromita, Ortiz Oskar, Brivio Elena, Menegaz Danusa, Sotillos Elliott Laura, Du Ying, Ries Clemens, Chen Alon, Wurst Wolfgang, Lopez Juan Pablo, Eder Matthias, Deussing Jan M

Abstract excerpt

The single nucleotide polymorphism rs13166360, causing a substitution of valine (Val) 147 to leucine (Leu) in the adenylyl cyclase 2 (ADCY2), has previously been associated with bipolar disorder (BD). Here we show that the disease-associated ADCY2 missense mutation diminishes the enzyme´s capacity to generate the second messenger 3',5'-cylic adenosine monophosphate (cAMP) by altering its subcellular localization....

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Identifiers

PMID: 39003412
DOI: 10.1038/s41380-024-02663-w
PMCID: PMC11649569

Genes

ADCY2
CA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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