Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome-Reference-Cited by-同舟云学术

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

Published:2020-01-08 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

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

Funder

Instituto de Salud Carlos III

Gobierno de Aragón

Federación Española de Enfermedades Raras

Fundación Mutua Madrileña

Fundación Española para la Ciencia y la Tecnología

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference25 articles.

1. Quantification of mitochondrial DNA copy number: pre-analytical factors;Andreu;Mitochondrion,2009

2. Detailed biochemical and bioenergetic characterization of FBXL4-related encephalomyopathic mitochondrial DNA depletion;Antoun;JIMD Rep.,2016

3. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance;Bonnen;Am. J. Hum. Genet.,2013

4. The F-box: a new motif for ubiquitin dependent proteolysis in cell cycle regulation and signal transduction;Craig;Prog. Biophys. Mol. Biol.,1999

5. Mitochondrial respiratory-chain diseases;DiMauro;N Engl. J. Med.,2003

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1. Mediation of mitochondrial DNA copy number and oxidative stress in fluoride-related bone mineral density alteration in Chinese farmers;Environmental Geochemistry and Health;2024-05-02

2. New variant in the FBXL4 gene - leading to mitochondrial DNA depletion syndrome;J PEDIATR NEONATAL I;2024

3. Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models;JCI Insight;2022-08-22

4. Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects;Antioxidants;2022-03-07

5. Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease;Frontiers in Cardiovascular Medicine;2022-02-14

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