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

doi:10.26508/lsa.202201512

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Article

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

Life science alliance - 1 Oct 2022

Tibbe Debora, Ferle Pia, Krisp Christoph, Nampoothiri Sheela, Mirzaa Ghayda, Assaf Melissa, Parikh Sumit, Kutsche Kerstin, Kreienkamp Hans-Jürgen

Abstract excerpt

CASK is a unique membrane-associated guanylate kinase (MAGUK) because of its Ca2+/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...

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PMID: 36137748
DOI: 10.26508/lsa.202201512
PMCID: PMC9500383

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