Article

CLN5 deficiency impairs glucose uptake in Batten disease

2025-01-02

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 an...

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Literature Corpus work: acb741d9-dabd-5c9a-b91b-823a8a64eadc
DOI: 10.1101/2025.01.02.630719

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