Associated Papers
Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models.
Lavorato M et al.
Jci Insight, 2022
35881484 (PubMed )
Supplement: jciinsight-7-156346-s236.pdf
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
Ballout RA et al.
Frontiers in Genetics, 2019
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X et al.
American Journal of Human Genetics, 2013
Select a paper to view details