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

9 May 2025

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

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