Johanna Uusimaa

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 describes a method to obtain brain tissue for omic analyses using SEEG electrodes, showing concordant transcriptomic and proteomic findings across different epileptic zones.

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.

The paper describes a method to collect brain tissue from DBS surgical instruments for transcriptomic and proteomic analysis, showing it provides reliable data comparable to traditional brain tissue samples.

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.