Molecular genetics and metabolism
Enzyme replacement therapy for CLN1 batten disease that crosses the blood-brain-barrier.
Renuka Raman, Ben Horst, Zahra Shahrokh, Nader Hatambeygi, Maryam Zare, Magdalena Leszczyniecka, Joshua S Harris, William A Banks, Kim M Hansen, Michelle A Erickson, Sean Ekins
Published: 202610.1016/j.ymgme.2026.109733
Abstract
CLN1 Batten disease is caused by mutations in the CLN1 gene which codes for the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1). Disease progression is marked by intellectual and motor deterioration, seizures, vision loss, and early mortalit…
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