2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsATPases Associated with Diverse Cellular ActivitiesAutism Spectrum DisorderCiliaEpendymaFemaleHumansHydrocephalusKataninMaleMiceMicrotubulesNeuronsPyramidal CellsConceptsCongenital hydrocephalusCerebral ventriculomegalyPathogenic variantsPrefrontal pyramidal neuronsGenetic subsets of patientsDevelopment of ventriculomegalyRadial gliaSubsets of patientsHigh-frequency firingNeuronal connectivityHeterozygous germline variantsAutism spectrum disorderVentricular-subventricular zoneMicrotubule dynamicsImpaired spermatogenesisCSF shuntingExcitatory driveMicrotubule-severing ATPasePyramidal neuronsDisrupt neuronal connectivityGermline variantsVentriculomegalyCSF homeostasisDisrupt microtubule dynamicsPlanar cell polarity
2019
The Functional Brain Organization of an Individual Allows Prediction of Measures of Social Abilities Transdiagnostically in Autism and Attention-Deficit/Hyperactivity Disorder
Lake EMR, Finn ES, Noble SM, Vanderwal T, Shen X, Rosenberg MD, Spann MN, Chun MM, Scheinost D, Constable RT. The Functional Brain Organization of an Individual Allows Prediction of Measures of Social Abilities Transdiagnostically in Autism and Attention-Deficit/Hyperactivity Disorder. Biological Psychiatry 2019, 86: 315-326. PMID: 31010580, PMCID: PMC7311928, DOI: 10.1016/j.biopsych.2019.02.019.Peer-Reviewed Original ResearchMeSH KeywordsAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderCerebral CortexConnectomeFemaleHumansLinear ModelsMagnetic Resonance ImagingMaleNerve NetSocial SkillsConceptsAttention-deficit/hyperactivity disorderAutism spectrum disorderSpectrum disorderFunctional connectivity profilesHyperactivity disorderBrain organizationAutism Brain Imaging Data ExchangeConnectome-based predictive modelingAutism Diagnostic Observation ScheduleAutism spectrum disorder traitsAutism spectrum disorder severitySocial Responsiveness Scale scoresADHD Rating Scale scoresFunctional magnetic resonance imagingBrain-behavior associationsSocial Responsiveness ScaleResting-state functional magnetic resonanceFunctional brain organizationFunctional magnetic resonanceADHD traitsNeurofunctional basisADHD symptomsSplit-half analysisResponsiveness ScaleSocial abilities