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...

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Publicat a:Ann Clin Transl Neurol
Autors principals: Nardecchia, Francesca, De Giorgi, Agnese, Palombo, Flavia, Fiorini, Claudio, De Negri, Anna M., Carelli, Valerio, Caporali, Leonardo, Leuzzi, Vincenzo
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Brief Communications
Accés en línia: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
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