A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic studies to characterize a novel canine neurodegenerative disease present in the Lagotto Romagnolo dog breed. Affected dogs suffer from progressive...

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Detalles Bibliográficos
Autores principales: Kyöstilä, Kaisa, Syrjä, Pernilla, Jagannathan, Vidhya, Chandrasekar, Gayathri, Jokinen, Tarja S., Seppälä, Eija H., Becker, Doreen, Drögemüller, Michaela, Dietschi, Elisabeth, Drögemüller, Cord, Lang, Johann, Steffen, Frank, Rohdin, Cecilia, Jäderlund, Karin H., Lappalainen, Anu K., Hahn, Kerstin, Wohlsein, Peter, Baumgärtner, Wolfgang, Henke, Diana, Oevermann, Anna, Kere, Juha, Lohi, Hannes, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398399/
https://www.ncbi.nlm.nih.gov/pubmed/25875846
http://dx.doi.org/10.1371/journal.pgen.1005169

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