Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction

CLN5 disease is a rare form of late-infantile neuronal ceroid lipofuscinosis (NCL) caused by mutations in the CLN5 gene that encodes a protein whose primary function and physiological roles remains unresolved. Emerging lines of evidence point to mitochondrial dysfunction in the onset and progression...

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Bibliografske podrobnosti
izdano v:Cell Death Discov
Main Authors: Doccini, Stefano, Morani, Federica, Nesti, Claudia, Pezzini, Francesco, Calza, Giulio, Soliymani, Rabah, Signore, Giovanni, Rocchiccioli, Silvia, Kanninen, Katja M., Huuskonen, Mikko T., Baumann, Marc H., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2020
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7105465/
https://ncbi.nlm.nih.gov/pubmed/32257390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41420-020-0250-y
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