2017
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H
Mulkey SB, Ben‐Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang Y, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H. Epilepsia 2017, 58: 436-445. PMID: 28139826, PMCID: PMC5339037, DOI: 10.1111/epi.13676.Peer-Reviewed Original ResearchConceptsNonepileptic myoclonusClinical presentationFunction variantsMultifocal epileptiform dischargesProminent clinical featureDistinct clinical presentationsProfound developmental delayBurst-suppression patternInstitutional review boardNeonatal encephalopathyClinical featuresEpileptic spasmsNeonatal periodNeonatal seizuresRespiratory dysfunctionPatient RegistryMedical recordsNeonatal presentationElectrophysiologic propertiesEpileptiform dischargesParoxysmal movementsTherapeutic approachesPatientsBrain volumeMyoclonus
2016
The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling
Mansour M, Haupt S, Chan AL, Godde N, Rizzitelli A, Loi S, Caramia F, Deb S, Takano EA, Bishton M, Johnstone C, Monahan B, Levav-Cohen Y, Jiang YH, Yap AS, Fox S, Bernard O, Anderson R, Haupt Y. The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling. Cancer Research 2016, 76: 4236-4248. PMID: 27231202, DOI: 10.1158/0008-5472.can-15-1553.Peer-Reviewed Original ResearchConceptsBreast cancer patientsPoor prognosisCancer patientsBreast cancerBreast cancer-related deathsSuppresses breast cancer metastasisMetastatic breast cancerCancer-related deathBreast cancer metastasisBasal breast cancerBreast cancer invasivenessSteroid hormone receptorsMetastatic diseaseCurrent therapiesSecondary tumorsTherapeutic approachesTumor cell migrationCancer metastasisPatientsCancer invasivenessHormone receptorsMetastasisMajor causeHigh expressionE3 ubiquitin protein ligase
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