2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. Molecular Case Studies 2021, 7: a006081. PMID: 34117073, PMCID: PMC8208043, DOI: 10.1101/mcs.a006081.Peer-Reviewed Original ResearchConceptsMitochondrial flavin adenine dinucleotideCaspase-independent typeRespiratory complex assemblyFunctional studiesApoptosis inducer staurosporineGalactose-containing mediumNicotinamide adenine dinucleotide (phosphate) oxidoreductaseApoptotic stimuliSteady-state levelsComplex assemblyGene productsReactive oxygen speciesMitochondrial deficiencyTissue-specific effectsNuclear condensationFlavin adenine dinucleotideReduced abundanceMitochondrial complexesComplex IPyruvate dehydrogenaseMitochondrial dysfunctionPatient cellsExome sequencingOxygen speciesElevated sensitivity
2012
The E6AP E3 ubiquitin ligase regulates the cellular response to oxidative stress
Wolyniec K, Levav-Cohen Y, Jiang Y, Haupt S, Haupt Y. The E6AP E3 ubiquitin ligase regulates the cellular response to oxidative stress. Oncogene 2012, 32: 3510-3519. PMID: 22986523, DOI: 10.1038/onc.2012.365.Peer-Reviewed Original ResearchConceptsE3 ubiquitin ligaseReactive oxygen speciesUbiquitin ligaseStress responseCellular responsesE6AP expressionStress conditionsImportant stress conditionsCell growthCellular stress responseAppropriate cellular responsesOxidative stress responseSpecific stress conditionsOxidative stressIntracellular reactive oxygen speciesOncogenic RasCellular senescenceGrowth-suppressive effectsOxidative DNA damageApoptotic responseNovel roleCell deathImportant regulatorE6APDNA damage