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
E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis
Wolyniec K, Shortt J, de Stanchina E, Levav-Cohen Y, Alsheich-Bartok O, Louria-Hayon I, Corneille V, Kumar B, Woods S, Opat S, Johnstone R, Scott C, Segal D, Pandolfi P, Fox S, Strasser A, Jiang Y, Lowe S, Haupt S, Haupt Y. E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis. Blood 2012, 120: 822-832. PMID: 22689861, PMCID: PMC3709628, DOI: 10.1182/blood-2011-10-387647.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisBurkitt LymphomaCell Line, TumorCell Transformation, NeoplasticCellular SenescenceHumansLymphoma, Large B-Cell, DiffuseMiceMice, Inbred C57BLMice, TransgenicNuclear ProteinsPromyelocytic Leukemia ProteinProteasome Endopeptidase ComplexProto-Oncogene Proteins c-mycTranscription FactorsTumor Suppressor ProteinsUbiquitinUbiquitin-Protein LigasesConceptsB-cell lymphomaB-cell lymphomagenesisCellular senescenceB-cell lymphoma developmentNon-Hodgkin lymphomaNovel therapeutic approachesB-cell lymphoma progressionHuman Burkitt lymphomaTumor-suppressive actionB lymphoma cellsTherapeutic approachesBurkitt's lymphomaLymphoma progressionSuppressive actionLymphoma developmentLymphomaConcurrent inductionE6AP ubiquitin ligasePML expressionElevated levelsE6AP expressionKey tumor suppressorPML nuclear bodiesNeoplastic transformationLymphomagenesis