Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

Recessive HACE1 mutations are associated with a severe neurodevelopmental disorder (OMIM: 616756). However, the physiopathologycal bases of the disease are yet to be completely clarified. Whole-exome sequencing identified homozygous HACE1 mutations (c.240C>A, p.Cys80Ter) in a patient with brain a...

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Detalles Bibliográficos
Autores principales: Ugarteburu, Olatz, Sánchez-Vilés, Marta, Ramos, Julio, Barcos-Rodríguez, Tamara, Garrabou, Gloria, García-Villoria, Judit, Ribes, Antonia, Tort, Frederic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231286/
https://www.ncbi.nlm.nih.gov/pubmed/32225089
http://dx.doi.org/10.3390/jcm9040913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231286/
https://www.ncbi.nlm.nih.gov/pubmed/32225089
http://dx.doi.org/10.3390/jcm9040913

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