Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ
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DOI: 10.1002/jnr.25013
Abstract: 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… read more here.
Keywords: mutation camkii; camkii; pathological mechanism; disease ... See more keywords