Antti M. Salo

This study identifies CLN8 as a stereospecific GPG acyltransferase critical for BMP biosynthesis, showing its loss causes Batten disease and that S,S-LPG supplementation can restore BMP and improve neurological symptoms.

This paper generates a Cln8 p.R24G mouse model that phenocopies major clinical features of Northern epilepsy, including seizures and neurodegeneration.

The paper describes a FINCA mouse model with mild hyperactivity and altered immune response, identifying Rho GTPase signaling as a key pathway affected by the p.Asp148Tyr variant in NHLRC2.