Article

Functional characterization of ATP13A2 variants associated with distinct neurodegenerative disorders

2023-08-21

Abstract excerpt

ATP13A2 is a late endolysosomal transporter that exports the polyamines spermine and spermidine from the organellar lumen to the cytosol. Loss-of-function variants in ATP13A2 are causative for Kufor-Rakeb syndrome (KRS, a recessive juvenile-onset parkinsonism with dementia) and have also been identified in early-onset PD (EOPD) and hereditary spastic paraplegia (HSP). Furthermore, candidate pathogenic ATP13A2 var...

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Literature Corpus work: 75ef62da-698e-5547-b7c9-287ddc453680
DOI: 10.1101/2023.08.21.552829

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