Article
CLN3 regulates endosomal function by modulating Rab7A activity
2019-05-10
Abstract excerpt
Mutations in CLN3 are a cause of juvenile NCL (JNCL), also known as Batten Disease. Clinical manifestations includes cognitive regression, progressive loss of vision and motor function, epileptic seizures, and a significantly reduced lifespan. CLN3 localizes to endosomes and lysosomes, and has been implicated in intracellular trafficking and autophagy. However, the precise molecular function of CLN3 remains to be...
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Identifiers and source
- Literature Corpus work
- 2b1f4c3c-0717-5b84-accd-ffe8d2971c24
- DOI
- 10.1101/634915
