A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism

A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism

The autosomal dominant neuronal ceroid lipofuscinoses (NCL) CLN4 is caused by mutations in the synaptic vesicle (SV) protein CSPα. We developed animal models of CLN4 by expressing CLN4 mutant human CSPα (hCSPα) in Drosophila neurons. Similar to patients, CLN4 mutations induced excessive oligomerizat...

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Bibliographic Details
Main Authors: Elliot Imler, Jin Sang Pyon, Selina Kindelay, Meaghan Torvund, Yong-quan Zhang, Sreeganga S Chandra, Konrad E Zinsmaier
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2019-10-01
Series:eLife
Subjects:
cysteine-string protein
neuronal ceroid lipofuscinosis
lysosome
Online Access:https://elifesciences.org/articles/46607

Internet

https://elifesciences.org/articles/46607

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