2021
Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability
Nagayoshi Y, Chujo T, Hirata S, Nakatsuka H, Chen C, Takakura M, Miyauchi K, Ikeuchi Y, Carlyle B, Kitchen R, Suzuki T, Katsuoka F, Yamamoto M, Goto Y, Tanaka M, Natsume K, Nairn A, Suzuki T, Tomizawa K, Wei F. Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability. Science Advances 2021, 7: eabf3072. PMID: 33771871, PMCID: PMC7997516, DOI: 10.1126/sciadv.abf3072.Peer-Reviewed Original ResearchTransfer RNAsTranslation efficiencyAberrant synaptic plasticityIntellectual disabilitySubset of genesPatient-derived cellsRibosome profilingKO miceSynaptic organizationSteady-state levelsKnockout miceMolecular pathogenesisSynaptic plasticityMemory deficitsSynaptic morphologyAnticodon regionPhe codonsBrainSlow decodingMechanistic insightsMiceFTSJ1GenesMethylationDisability
2018
Striatal Signaling Regulated by the H3R Histamine Receptor in a Mouse Model of tic Pathophysiology
Rapanelli M, Frick L, Jindachomthong K, Xu J, Ohtsu H, Nairn A, Pittenger C. Striatal Signaling Regulated by the H3R Histamine Receptor in a Mouse Model of tic Pathophysiology. Neuroscience 2018, 392: 172-179. PMID: 30278251, PMCID: PMC6204318, DOI: 10.1016/j.neuroscience.2018.09.035.Peer-Reviewed Original ResearchConceptsHDC-KO miceMitogen-activated protein kinaseHistamine receptorsWT animalsDorsal striatumH3R activationTic-like movementsStriatonigral medium spiny neuronsAkt phosphorylationMedium spiny neuronsWild-type miceRare genetic causeHistamine dysregulationAgonist treatmentKO miceSpiny neuronsTic disordersTic pathophysiologyStriatal signalingMouse modelNeuropsychiatric diseasesKO modelRepetitive movementsStriatumMice