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

CASK is a unique membrane-associated guanylate kinase (MAGUK) because of 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.E1...

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Detalles Bibliográficos
Autores principales: Tibbe, Debora, Ferle, Pia, Krisp, Christoph, Nampoothiri, Sheela, Mirzaa, Ghayda, Assaf, Melissa, Parikh, Sumit, Kutsche, Kerstin, Kreienkamp, Hans-Jürgen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500383/
https://www.ncbi.nlm.nih.gov/pubmed/36137748
http://dx.doi.org/10.26508/lsa.202201512

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500383/
https://www.ncbi.nlm.nih.gov/pubmed/36137748
http://dx.doi.org/10.26508/lsa.202201512

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