Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the precise role of the protein remains unknown. In this...

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Detalles Bibliográficos
Autores principales: Emperador, Sonia, Garrido-Pérez, Nuria, Amezcua-Gil, Javier, Gaudó, Paula, Andrés-Sanz, Julio Alberto, Yubero, Delia, Fernández-Marmiesse, Ana, O’Callaghan, Maria M., Ortigoza-Escobar, Juan D., Iriondo, Marti, Ruiz-Pesini, Eduardo, García-Cazorla, Angels, Gil-Campos, Mercedes, Artuch, Rafael, Montoya, Julio, Bayona-Bafaluy, María Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6960396/
https://www.ncbi.nlm.nih.gov/pubmed/31969900
http://dx.doi.org/10.3389/fgene.2019.01300

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