2017
Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity
Katrancha SM, Wu Y, Zhu M, Eipper BA, Koleske AJ, Mains RE. Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity. Human Molecular Genetics 2017, 26: 4728-4740. PMID: 28973398, PMCID: PMC5886096, DOI: 10.1093/hmg/ddx355.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsDatabases, Nucleic AcidGuanine Nucleotide Exchange FactorsGuanosine DiphosphateGuanosine TriphosphateHEK293 CellsHumansMiceMice, KnockoutMutationNeurodevelopmental DisordersProtein DomainsProtein Serine-Threonine KinasesRac1 GTP-Binding ProteinRho GTP-Binding ProteinsRhoA GTP-Binding ProteinConceptsDe novo mutationsNeurodevelopmental disordersRare sequence variantsTriple functional domain proteinNovo mutationsComplex neurodevelopmental disorderBipolar disorderTherapeutic progressSequence variantsImpaired inhibitionProtein levelsDisordersMolecular pathwaysMillions of peopleIntellectual disabilityRare variantsNeurite outgrowthGenetic damageFactor activityMutationsExchange factor activityDistinct specificitiesPoor understandingRac1Activity
2003
Phospholipids Can Switch the GTPase Substrate Preference of a GTPase-activating Protein*
Ligeti E, Dagher MC, Hernandez SE, Koleske AJ, Settleman J. Phospholipids Can Switch the GTPase Substrate Preference of a GTPase-activating Protein*. Journal Of Biological Chemistry 2003, 279: 5055-5058. PMID: 14699145, DOI: 10.1074/jbc.c300547200.Peer-Reviewed Original ResearchConceptsGTPase-activating proteinsSmall GTPasesSubstrate preferencePotent GTPase-activating proteinMajor cellular inhibitorActivity of GTPasesNovel regulatory mechanismLikely physiological roleRacGAP activityIntrinsic GTPRhoGAP activityP190 RhoGAPCellular inhibitorRac GTPasesGTPasesRegulatory mechanismsPhysiological roleProteinPhospholipidsFatty acidsRhoGAPGTPP190ActivityRho