Article

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

2022-04-21

Abstract excerpt

CASK is a unique membrane associated guanylate kinase (MAGUK), due to its Ca 2+ /calmodulin-dependent kinase (CaMK) domain. We describe four male patients with a severe neurodevelopmental disorder with microcephaly carrying missense variants affecting the CaMK domain. One boy who carried the p.E115K variant and died at an early age showed pontocerebellar hypoplasia (PCH) in addition to microcephaly, thus exhibiti...

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Literature Corpus work: 8aa611c3-acdb-5e23-bf5f-a961cbdc7dde
DOI: 10.1101/2022.04.21.489014

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