Article

A <i>Drosophila</i> model of neuronal ceroid lipofuscinosis <i>CLN4</i> reveals a hypermorphic gain of function mechanism

2019-03-15

Abstract excerpt

The autosomal dominant neuronal ceroid lipofuscinoses (NCL) CLN4 is caused by mutations in the synaptic vesicle (SV) protein CSPα, which is a critical co-chaperone of Hsc70 protecting synapses from activity-dependent degeneration. We developed the first animal models of CLN4 by expressing either CLN4 mutant human CSPα (hCSPα) or Drosophila CSP (dCSP) in fly neurons. Similar to patients, CLN4 mutations induced...

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Literature Corpus work: 930d005b-297b-53d9-9021-b932d8a59493
DOI: 10.1101/579771

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