Maria Marchese

Stereospecific GPG acylation by CLN8 drives BMP biosynthesis and its loss leads to Batten disease

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.

1,3-1,6 β-glucans reduce aging hallmarks in multiple organs and rapidly induce mitochondrial biogenesis and autophagy via direct effect on the killifish brain and human neurons

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease

This study identifies BMP and LPG as biomarkers for CLN5 Batten disease using lipidomics, showing their depletion and elevation in disease models and patient samples.

CLN5 deficiency impairs glucose uptake in Batten disease

This study develops a zebrafish model of CLN5 deficiency, revealing impaired glucose metabolism as a novel feature of NCL.