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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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Detalles Bibliográficos
Autores principales:	Imler, Elliot, Pyon, Jin Sang, Kindelay, Selina, Torvund, Meaghan, Zhang, Yong-quan, Chandra, Sreeganga S, Zinsmaier, Konrad E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	eLife Sciences Publications, Ltd 2019
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6897512/ https://www.ncbi.nlm.nih.gov/pubmed/31663851 http://dx.doi.org/10.7554/eLife.46607

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