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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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Principais autores: Sonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Marti Iriondo, Eduardo Ruiz-Pesini, Angels García-Cazorla, Mercedes Gil-Campos, Rafael Artuch, Julio Montoya, María Pilar Bayona-Bafaluy
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020-01-01
coleção:Frontiers in Genetics
Assuntos:
mitochondrial disease
encephalomyopathic mtDNA depletion syndrome 13
F-box leucine-rich repeat protein 4
mitochondrial DNA
mtDNA depletion
mtDNA transcription
Acesso em linha:https://www.frontiersin.org/article/10.3389/fgene.2019.01300/full
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