2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics 2018, 50: 1093-1101. PMID: 30013181, PMCID: PMC6072555, DOI: 10.1038/s41588-018-0166-0.Peer-Reviewed Original ResearchConceptsNeuronal migrationHuman cerebral cortexCortical neuronal migrationΒ-catenin signalingCerebral cortexPotential disease mechanismsDevelopmental brain defectsBiallelic truncating mutationsNeuronal phenotypeBiallelic lossBrain defectsBiallelic mutationsTruncating mutationsDisease mechanismsΒ-cateninPachygyriaRecessive formNeurite stabilityNeuronsFamily membersCTNNA2OveractivityPatients
2015
Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development
Nishimura S, Bilgüvar K, Ishigame K, Sestan N, Günel M, Louvi A. Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development. PLOS ONE 2015, 10: e0124295. PMID: 25875176, PMCID: PMC4398320, DOI: 10.1371/journal.pone.0124295.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornBone Morphogenetic Protein 7Cell MovementChemokine CXCL12CholecystokininCorpus CallosumEmbryo, MammalianGene Expression ProfilingGene Expression Regulation, DevelopmentalHomozygoteHumansInterneuronsMiceMice, KnockoutMidline Thalamic NucleiMutationNeocortexNeuropilin-2Receptor, Cholecystokinin AReceptor, Cholecystokinin BReceptors, N-Methyl-D-AspartateSignal TransductionTranscriptomeConceptsCCK receptorsBrain developmentMammalian neocortical developmentCentral nervous systemCortical interneuron migrationHomozygous mutant miceMammalian brain developmentPeripheral organsReceptor lossCorpus callosumCortical developmentPostnatal brainAbundant neuropeptideNervous systemInterneuron migrationMutant miceEmbryonic neocortexNeocortical developmentReceptorsPeptide hormonesG proteinsCholecystokininReciprocal expressionCCKBRBrain