2021
Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder
Enriquez KD, Gupta AR, Hoffman EJ. Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. Frontiers In Psychiatry 2021, 12: 716673. PMID: 34690830, PMCID: PMC8531220, DOI: 10.3389/fpsyt.2021.716673.Peer-Reviewed Original ResearchASD genetic studiesBiological pathwaysGenetic studiesRisk gene discoveryCellular pathways downstreamASD risk genesWhole-exome sequencing studiesCommon biological pathwaysGene discoveryPathways downstreamGene expressionSequencing studiesRisk genesMale biasPathwayGenesNeuronal communicationCommon pathwayPotential roleFemale protective effectNeurodevelopmental disordersRecent analysisTranscriptomicsGenomicsRecent investigationsPTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets
DeSpenza T, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends In Neurosciences 2021, 44: 961-976. PMID: 34625286, PMCID: PMC8692171, DOI: 10.1016/j.tins.2021.08.007.Peer-Reviewed Original ResearchConceptsDevelopmental pleiotropyPTEN-PI3KMTOR pathwayMolecular pathophysiologyPTEN mutationsMolecular similarityTherapeutic targetCommon underlying mechanismNeurodevelopmental disordersUnderlying mechanismTherapeutic promisePleiotropyBiologyPhenotypicMutationsLimited understandingPathwayCommon neurodevelopmental disorderAutism spectrum disorderSimilarityTarget
2020
Chapter 26 Modeling autism spectrum disorders in zebrafish
Dreosti E, Hoffman E, Rihel J. Chapter 26 Modeling autism spectrum disorders in zebrafish. 2020, 451-480. DOI: 10.1016/b978-0-12-817528-6.00026-7.ChaptersZebrafish modelGenetics of ASDGenome-wide association studiesHundreds of genesNervous system formComplex behavioral repertoireHuman neurodevelopmental disordersWhole-genome sequencingExcellent systemGenetic informationGenome sequencingAssociation studiesGenerate mutationsZebrafishUnique human traitsHuman traitsHuman biologyNeurodevelopmental disordersASD biologyGenetic alterationsRapid discoveryGenesBiologyBehavioral repertoireNeuronal processes
2018
Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future
Sakai C, Ijaz S, Hoffman EJ. Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future. Frontiers In Molecular Neuroscience 2018, 11: 294. PMID: 30210288, PMCID: PMC6123572, DOI: 10.3389/fnmol.2018.00294.Peer-Reviewed Original ResearchGene functionZebrafish modelCRISPR/Cas9 geneSmall-molecule suppressorTransparent embryosZebrafish systemHigh-throughput pharmacological screensNeurodevelopmental disordersGenetic manipulationCas9 geneBehavioral phenotypesLarge progenyFunctional analysisLarval stagesPharmacological screensZebrafishRisk genesGenesModel systemExternal developmentPhenotypeCircuit-level mechanismsBasic mechanismsNeural circuitsNervous system