Associated Papers
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y et al.
Mitochondrion, 2026
Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial.
Berrahmoune S et al.
Journal of Neurology, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome.
Chen Y et al.
Cell Death and Differentiation, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels.
Elcocks H et al.
The Embo Journal, 2023
FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors.
Nguyen-Dien GT et al.
The Embo Journal, 2023
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A et al.
Frontiers in Genetics, 2023
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P et al.
Neurology. Genetics, 2021
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
Ballout RA et al.
Frontiers in Genetics, 2019
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.
Cañadas-Garre M et al.
Frontiers in Genetics, 2019
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW et al.
Human Mutation, 2017
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT et al.
Jama Pediatrics, 2017
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
Dai H et al.
Clinical Genetics, 2017
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Barøy T et al.
European Journal of Medical Genetics, 2016
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2015
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X et al.
American Journal of Human Genetics, 2013