2023
High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways
Mendes H, Neelakantan U, Liu Y, Fitzpatrick S, Chen T, Wu W, Pruitt A, Jin D, Jamadagni P, Carlson M, Lacadie C, Enriquez K, Li N, Zhao D, Ijaz S, Sakai C, Szi C, Rooney B, Ghosh M, Nwabudike I, Gorodezky A, Chowdhury S, Zaheer M, McLaughlin S, Fernandez J, Wu J, Eilbott J, Vander Wyk B, Rihel J, Papademetris X, Wang Z, Hoffman E. High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Reports 2023, 42: 112243. PMID: 36933215, PMCID: PMC10277173, DOI: 10.1016/j.celrep.2023.112243.Peer-Reviewed Original ResearchConceptsGene lossFunctional analysisHigh-throughput functional analysisZebrafish mutantsGene discoverySelect mutantsASD genesAutism genesKey pathwaysASD biologyBrain size differencesMutantsGenesSize differencesPathwayGlobal increaseRelevant mechanismsBiologyCentral challengeNeuroimmune dysfunctionRegionFunctionDiscoveryAutism spectrum disorder
2016
Pharmacotherapy for Fragile X Syndrome: Progress to Date
Davenport M, Schaefer T, Friedmann K, Fitzpatrick S, Erickson C. Pharmacotherapy for Fragile X Syndrome: Progress to Date. Drugs 2016, 76: 431-445. PMID: 26858239, DOI: 10.1007/s40265-016-0542-y.Peer-Reviewed Original ResearchConceptsFragile X Mental Retardation ProteinGamma-aminobutyric acid (GABA) neurotransmissionMore objective outcome measuresPlacebo-controlled trialFragile X syndromeClinical study designObjective outcome measuresSymptomatic treatmentLoss of FMRPFuture trialsExcessive glutamateOutcome measuresSelective antagonistClinical investigationSingle treatmentStudy designSymptomatic perspectiveGenetic causeX syndromeMental retardation proteinTrialsDrug developmentTreatmentSyndromeDrugs
2015
The neurobehavioral and molecular phenotype of Angelman Syndrome
Wink L, Fitzpatrick S, Shaffer R, Melnyk S, Begtrup A, Fox E, Schaefer T, Mathieu-Frasier L, Ray B, Lahiri D, Horn P, Erickson C. The neurobehavioral and molecular phenotype of Angelman Syndrome. American Journal Of Medical Genetics Part A 2015, 167: 2623-2628. PMID: 26219744, DOI: 10.1002/ajmg.a.37254.Peer-Reviewed Original ResearchConceptsPlasma levelsAngelman syndromeBrain-derived neurotrophic factor (BDNF) plasma levelsDevelopmental delayNeurotrophic factor plasma levelsBDNF plasma levelsDetailed medical historyAge 3 yearsRare neurodevelopmental disorderLarger future studiesAbnormal neuronal developmentBDNF levelsSignificant developmental delayNeuropsychiatric presentationUnique behavioral profileGait ataxiaMedical historySleep disruptionMajority of individualsPlasma samplingAutism Diagnostic Observation ScheduleNeuronal developmentNeurodevelopmental disordersNeurobehavioral phenotypesHyperactivity/impulsivity