GeneticsLife Science AlliancePeer-reviewed
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Debora Tibbe, Pia Ferle, Christoph Krisp…·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.
13 citations