Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models
Author:
Funder
National Institutes of Health
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://insight.jci.org/articles/view/156346/files/pdf
Reference74 articles.
1. Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
2. Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
3. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
4. FBXL4-related mitochondrial DNA depletion syndrome 13 (mtdps13): a case report with a comprehensive mutation review;Ballout;Front Genet,2019
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3. New variant in the FBXL4 gene - leading to mitochondrial DNA depletion syndrome;J PEDIATR NEONATAL I;2024
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5. FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome;Cell Death & Differentiation;2023-08-11
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