Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

CoenzymeQ10 is one of the main cellular antioxidants and an essential lipid involved in numerous cell reactions, such as energy production and apoptosis modulation. A large number of enzymes are involved in CoQ10 biosynthesis. Mutations in the genes encoding for these enzymes cause a CoQ10 deficienc...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Nardecchia, Francesca, De Giorgi, Agnese, Palombo, Flavia, Fiorini, Claudio, De Negri, Anna M., Carelli, Valerio, Caporali, Leonardo, Leuzzi, Vincenzo
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7818083/
https://ncbi.nlm.nih.gov/pubmed/33285023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51232
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados