A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination. Hereditary ataxias occur in many species, including humans and dogs. Several mutations have been found in humans, but the genetic background has remained elusive in do...

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Detalles Bibliográficos
Autores principales: Kyöstilä, Kaisa, Cizinauskas, Sigitas, Seppälä, Eija H., Suhonen, Esko, Jeserevics, Janis, Sukura, Antti, Syrjä, Pernilla, Lohi, Hannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375262/
https://www.ncbi.nlm.nih.gov/pubmed/22719266
http://dx.doi.org/10.1371/journal.pgen.1002759

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375262/
https://www.ncbi.nlm.nih.gov/pubmed/22719266
http://dx.doi.org/10.1371/journal.pgen.1002759

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