Associated Papers
FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome.
Chen Y et al.
Cell Death and Differentiation, 2023
FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors.
Nguyen-Dien GT et al.
The Embo Journal, 2023
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
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
Dai H et al.
Clinical Genetics, 2017
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X et al.
American Journal of Human Genetics, 2013
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