TY  - JOUR
AU  - Emperador, Sonia
AU  - Garrido-Pérez, Nuria
AU  - Amezcua-Gil, Javier
AU  - Gaudó, Paula
AU  - Andrés-Sanz, Julio Alberto
AU  - Yubero, Delia
AU  - Fernández-Marmiesse, Ana
AU  - O'Callaghan, Maria M
AU  - Ortigoza-Escobar, Juan D
AU  - Iriondo, Marti
AU  - Ruiz-Pesini, Eduardo
AU  - García-Cazorla, Angels
AU  - Gil-Campos, Mercedes
AU  - Artuch, Rafael
AU  - Montoya, Julio
AU  - Bayona-Bafaluy, María Pilar
PY  - 2020
DO  - 10.3389/fgene.2019.01300
SN  - 1664-8021
UR  - https://hdl.handle.net/10668/28286
T2  - Frontiers in genetics
AB  - 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...
LA  - en
KW  - F-box leucine-rich repeat protein 4
KW  - encephalomyopathic mtDNA depletion syndrome 13
KW  - mitochondrial DNA
KW  - mitochondrial disease
KW  - mtDNA depletion
KW  - mtDNA transcription
KW  - oxidative phosphorylation
TI  - Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
TY  - research article
VL  - 10
ER  -