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Article

CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease.

Molecular psychiatry - 1 Oct 2025

Marchese Maria, Bernardi Sara, Vivarelli Rachele, Doccini Stefano, Santucci Lorenzo, Ogi Asahi, Licitra Rosario, Zang Jingjing, Soliymani Rabah, Mero Serena, Neuhauss Stephan Cf, Ciarmoli Lea, Signore Giovanni, Lalowski Maciej M, Santorelli Filippo M

Abstract excerpt

CLN5 disease, a form of juvenile dementia within the neuronal ceroid lipofuscinosis (NCL), is associated with mutations in the CLN5 gene encoding the lysosomal bis(monoacylglycero)phosphate (BMP) synthase, essential for BMP production and lysosomal function. Limited knowledge of cellular mechanisms and unclear drug targets hinder translating this to children's treatment, which remains symptomatic. We developed...

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Identifiers

PMID: 40346285
DOI: 10.1038/s41380-025-03043-8
PMCID: PMC12436169

Genes

CLN5
PHGDH

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