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Article

Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ.

Journal of neuroscience research - 1 Mar 2022

Mutoh Hiroki, Aoto Kazushi, Miyazaki Takehiro, Fukuda Atsuo, Saitsu Hirotomo

Abstract excerpt

Recently, we have identified CaMKIIα and CaMKIIβ mutations in patients with neurodevelopmental disorders by whole exome sequencing study. Most CaMKII mutants have increased phosphorylation of Thr286/287, which induces autonomous activity of CaMKII, using cell culture experiments. In this study, we explored the pathological mechanism of motor dysfunction observed exclusively in a patient with Pro213Leu mutation in...

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Identifiers

PMID: 35043465
DOI: 10.1002/jnr.25013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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