Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described as a neurodegenerative disease of autosomal recessi...

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Detalles Bibliográficos
Autores principales: Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M., Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413020/
https://www.ncbi.nlm.nih.gov/pubmed/28463998
http://dx.doi.org/10.1371/journal.pone.0176363

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413020/
https://www.ncbi.nlm.nih.gov/pubmed/28463998
http://dx.doi.org/10.1371/journal.pone.0176363

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