Human gene therapy
Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.
Wenfei Liu, Amy F Geard, Giulia Massaro, Michael P Hughes, Mikel Aristorena, Oliver Coombe-Tennant, Liangyuan Xu, Olha Semenyuk, Reuben Bush, Danielle Te Vruchte, David Priestman, Rhiannon Laban, Elena Veleva, Amanda J Heslegrave, Henrik Zetterberg
Published: 202510.1177/10430342251403448
Abstract
CLN5 disease, caused by mutations in the CLN5 gene, is a form of neuronal ceroid lipofuscinoses (Batten disease). Patients suffer progressive motor dysfunction, vision loss, seizures, and dementia, leading to premature death. Here, we report a precli…
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