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Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy

The Finnish variant of late infantile neuronal ceroid lipofuscinosis (CLN5 disease) belongs to a family of neuronal ceroid lipofuscinosis (NCLs) diseases. Vision loss is among the first clinical signs in childhood forms of NCLs. Mutations in CLN5 underlie CLN5 disease. The aim of this study was to c...

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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Leinonen, Henri, Keksa-Goldsteine, Velta, Ragauskas, Symantas, Kohlmann, Philip, Singh, Yajuvinder, Savchenko, Ekaterina, Puranen, Jooseppi, Malm, Tarja, Kalesnykas, Giedrius, Koistinaho, Jari, Tanila, Heikki, Kanninen, Katja M.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5431647/
https://ncbi.nlm.nih.gov/pubmed/28487519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-01716-1
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