Publication: CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease
CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease
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Marchese, M., Bernardi, S., Vivarelli, R., Doccini, S., Santucci, L., Ogi, A., Licitra, R., Zang, J., Soliymani, R., Mero, S., Neuhauss, S., Ciarmoli, L., Signore, G., Lalowski, M., & Santorelli, F. M. (2025). CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease. Molecular Psychiatry, 30, 4591–4604. https://doi.org/10.1038/s41380-025-03043-8
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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 and characterized a new cln5 knock-out zebrafish model that replicates key features and molecular signatures of the human dise
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Marchese, M., Bernardi, S., Vivarelli, R., Doccini, S., Santucci, L., Ogi, A., Licitra, R., Zang, J., Soliymani, R., Mero, S., Neuhauss, S., Ciarmoli, L., Signore, G., Lalowski, M., & Santorelli, F. M. (2025). CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease. Molecular Psychiatry, 30, 4591–4604. https://doi.org/10.1038/s41380-025-03043-8
