Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Debora Tibbe, Pia Ferle, Christoph Krisp, Sheela Nampoothiri, Ghayda Mirzaa, Melissa Assaf, Sumit Parikh, Kerstin Kutsche, Hans‐Jürgen Kreienkamp
The paper shows that a mutation in CASK's CaMK domain disrupts its regulation of Liprin-α phase separation, leading to neurodevelopmental disorder with microcephaly and pontocerebellar hypoplasia.
Life Science Alliance · Sep 22, 2022Peer-reviewedGenetics