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

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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Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Genetics
Subjects:
mitochondrial disease
encephalomyopathic mtDNA depletion syndrome 13
F-box leucine-rich repeat protein 4
mitochondrial DNA
mtDNA depletion
mtDNA transcription
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01300/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.01300/full

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