2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.Peer-Reviewed Original ResearchConceptsDevelopmental disabilitiesIntellectual disabilityPatient-derived fibroblastsMidbrain regionsBrain developmentDefective ciliogenesisCSF circulationDisabilityCSF flowAbnormal CSF flowNervous system developmentMutant tadpolesCiliated tissuesMultiple model systemsVariant functionPronephric ductUnrelated familiesCC2D1AExpression patternsCiliogenesisRenal dysplasiaLeft-right organizerFunctional analysisDisease mechanismsBrain
2007
Endoplasmic Reticulum Stress-induced Death of Mouse Embryonic Fibroblasts Requires the Intrinsic Pathway of Apoptosis*
Masud A, Mohapatra A, Lakhani SA, Ferrandino A, Hakem R, Flavell RA. Endoplasmic Reticulum Stress-induced Death of Mouse Embryonic Fibroblasts Requires the Intrinsic Pathway of Apoptosis*. Journal Of Biological Chemistry 2007, 282: 14132-14139. PMID: 17371867, DOI: 10.1074/jbc.m700077200.Peer-Reviewed Original Research
2006
Caspases 3 and 7: Key Mediators of Mitochondrial Events of Apoptosis
Lakhani SA, Masud A, Kuida K, Porter GA, Booth CJ, Mehal WZ, Inayat I, Flavell RA. Caspases 3 and 7: Key Mediators of Mitochondrial Events of Apoptosis. Science 2006, 311: 847-851. PMID: 16469926, PMCID: PMC3738210, DOI: 10.1126/science.1115035.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisApoptosis Inducing FactorBcl-2-Associated X ProteinCaspase 3Caspase 7CaspasesCell NucleusCell ShapeCell SurvivalCells, CulturedCytochromes cDNA FragmentationFemaleFibroblastsHeartHeart Defects, CongenitalMaleMiceMice, Inbred C57BLMice, KnockoutMitochondriaMitochondrial MembranesPermeabilityT-LymphocytesConceptsApoptosis-inducing factorMitochondrial eventsDownstream effector caspasesDeath receptor-mediated apoptosisCytochrome c releaseCaspase-3Receptor-mediated apoptosisDefective nuclear translocationEarly apoptotic eventsMitochondrial membrane potentialEffector caspasesBax translocationC releaseCardiac developmentApoptotic eventsCaspase-7Upstream signalsNuclear translocationApoptosisMembrane potentialCritical mediatorKey mediatorTranslocationCaspasesEffectors