A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies

Leber’s hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency. It is characterized by an acute vision loss, generally in young adults, with a higher penetrance in males. How complex I dysfunction induces the peculiar LHON clinical...

Descripción completa

Detalles Bibliográficos
Autores principales: Bocca, Cinzia, Le Paih, Victor, Chao de la Barca, Juan Manuel, Kouassy Nzoughet, Judith, Amati-Bonneau, Patrizia, Blanchet, Odile, Védie, Benoit, Géromin, Daniela, Simard, Gilles, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Orssaud, Christophe, Reynier, Pascal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033144/
https://www.ncbi.nlm.nih.gov/pubmed/33437983
http://dx.doi.org/10.1093/hmg/ddab013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033144/
https://www.ncbi.nlm.nih.gov/pubmed/33437983
http://dx.doi.org/10.1093/hmg/ddab013

Ejemplares similares