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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Bibliografiske detaljer
Udgivet i:eLife
Main Authors: Imler, Elliot, Pyon, Jin Sang, Kindelay, Selina, Torvund, Meaghan, Zhang, Yong-quan, Chandra, Sreeganga S, Zinsmaier, Konrad E
Format: Artigo
Sprog:Inglês
Udgivet: eLife Sciences Publications, Ltd 2019
Fag:
Neuroscience
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6897512/
https://ncbi.nlm.nih.gov/pubmed/31663851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.46607
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