2020
Mechanisms underlying auditory processing deficits in Fragile X syndrome
McCullagh EA, Rotschafer SE, Auerbach BD, Klug A, Kaczmarek LK, Cramer KS, Kulesza RJ, Razak KA, Lovelace JW, Lu Y, Koch U, Wang Y. Mechanisms underlying auditory processing deficits in Fragile X syndrome. The FASEB Journal 2020, 34: 3501-3518. PMID: 32039504, PMCID: PMC7347277, DOI: 10.1096/fj.201902435r.Peer-Reviewed Original ResearchConceptsAuditory dysfunctionAutism spectrum disorderAuditory brainstem circuitsFragile X syndromeAuditory processing deficitsCommon monogenetic causeNetwork hyperexcitabilityBrainstem circuitsAuditory pathwayAuditory cortexNeuronal plasticityAnimal modelsAuditory hypersensitivitySynaptic developmentHyperacusisMonogenetic causeDysfunctionX syndromeAberrant synaptic developmentBody of dataUnderlying mechanismMultiple mechanismsHuman therapySyndromeProcessing deficits
2017
Chapter 16 Ion Channel Dysfunction and FXS
Frick A, Ginger M, El-Hassar L, Kaczmarek L. Chapter 16 Ion Channel Dysfunction and FXS. 2017, 323-340. DOI: 10.1016/b978-0-12-804461-2.00016-0.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
2015
The sodium-activated potassium channel Slack is required for optimal cognitive flexibility in mice
Bausch AE, Dieter R, Nann Y, Hausmann M, Meyerdierks N, Kaczmarek LK, Ruth P, Lukowski R. The sodium-activated potassium channel Slack is required for optimal cognitive flexibility in mice. Learning & Memory 2015, 22: 323-335. PMID: 26077685, PMCID: PMC4478330, DOI: 10.1101/lm.037820.114.Peer-Reviewed Original ResearchConceptsFragile X Mental Retardation ProteinCognitive flexibilityFragile X syndromeNormal working memoryAspects of memoryIntellectual disabilityMental retardation proteinSpatial learning capabilitiesSlack channelsWorking memoryBehavioral tasksReference memorySodium-activated potassium channel SlackHigher brain functionsUnfamiliar situationsBrain functionSevere intellectual disabilityMemoryIntellectual developmentSodium-activated potassium channelsNull mouse modelGeneral locomotor activityX syndromeProper functionLearning capabilities
2014
Emerging role of the KCNT1 Slack channel in intellectual disability
Kim GE, Kaczmarek LK. Emerging role of the KCNT1 Slack channel in intellectual disability. Frontiers In Cellular Neuroscience 2014, 8: 209. PMID: 25120433, PMCID: PMC4112808, DOI: 10.3389/fncel.2014.00209.Peer-Reviewed Original ResearchIntellectual disabilitySlack channelsChannel activityEarly-onset epilepsyMaintained stimulationOnset epilepsyFragile X syndromeCommon causeNeuronal excitabilityEpileptic disordersAnimal modelsIntellectual impairmentX syndromeDisabilityMental retardation proteinSyndromePhysiological roleEpilepsyKCNT1ExcitabilityNeuronsBrainImpairmentRoleActivity