{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T03:27:54Z","timestamp":1772249274653,"version":"3.50.1"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T00:00:00Z","timestamp":1600387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Mol. Neurosci."],"DOI":"10.3389\/fnmol.2020.573409","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T10:04:16Z","timestamp":1600423456000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments"],"prefix":"10.3389","volume":"13","author":[{"given":"Dean","family":"Wundrach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis E.","family":"Martinetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"April M.","family":"Stafford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie M.","family":"Bilinovich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kartik","family":"Angara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy W.","family":"Prokop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shane R.","family":"Crandall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Vogt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,9,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"6189","DOI":"10.1073\/pnas.1915458117","article-title":"Nf1 deletion results in depletion of the Lhx6 transcription factor and a specific loss of parvalbumin+ cortical interneurons","volume":"117","author":"Angara","year":"2020","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"B2","doi-asserted-by":"publisher","first-page":"e67679","DOI":"10.1371\/journal.pone.0067679","article-title":"Dapper antagonist of catenin-1 cooperates with dishevelled-1 during postsynaptic development in mouse forebrain GABAergic interneurons","volume":"8","author":"Arguello","year":"2013","journal-title":"PLoS One"},{"key":"B200","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/2040-2392-4-5","article-title":"Lack of association of rare functional variants in TSC1\/TSC2 genes with autism spectrum disorder","volume":"4","author":"Bahl","year":"2013","journal-title":"Mol. Autism."},{"key":"B3","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1126\/science.3945815","article-title":"Parvalbumin in most gamma-aminobutyric acid-containing neurons of the rat cerebral cortex","volume":"231","author":"Celio","year":"1986","journal-title":"Science"},{"key":"B4","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1016\/j.neuron.2015.03.040","article-title":"A corticothalamic switch: controlling the thalamus with dynamic synapses","volume":"86","author":"Crandall","year":"2015","journal-title":"Neuron"},{"key":"B5","doi-asserted-by":"publisher","first-page":"3065","DOI":"10.1016\/j.celrep.2017.11.049","article-title":"Infrabarrels are layer 6 circuit modules in the barrel cortex that link long-range inputs and outputs","volume":"21","author":"Crandall","year":"2017","journal-title":"Cell Rep."},{"key":"B6","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1523\/JNEUROSCI.3496-17.2018","article-title":"CTCF governs the identity and migration of MGE-derived cortical interneurons","volume":"39","author":"Elbert","year":"2019","journal-title":"J. Neurosci."},{"key":"B7","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1177\/1073858403009003011","article-title":"Calcium-activated potassium channels: multiple contributions to neuronal function","volume":"9","author":"Faber","year":"2003","journal-title":"Neuroscientist"},{"key":"B8","doi-asserted-by":"publisher","first-page":"16570","DOI":"10.1523\/JNEUROSCI.4068-11.2011","article-title":"A wide diversity of cortical GABAergic interneurons derives from the embryonic preoptic area","volume":"31","author":"Gelman","year":"2011","journal-title":"J. Neurosci."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1931","DOI":"10.1093\/cercor\/bhw021","article-title":"The number of parvalbumin-expressing interneurons is decreased in the prefrontal cortex in autism","volume":"27","author":"Hashemi","year":"2017","journal-title":"Cereb. Cortex"},{"key":"B10","volume-title":"Ion Channels of Excitable Membranes.","author":"Hille","year":"2001"},{"key":"B11","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1016\/j.neuron.2015.12.039","article-title":"Estrogens suppress a behavioral phenotype in zebrafish mutants of the autism risk gene, CNTNAP2","volume":"89","author":"Hoffman","year":"2016","journal-title":"Neuron"},{"key":"B12","doi-asserted-by":"publisher","first-page":"195","DOI":"10.3389\/fncir.2013.00195","article-title":"Not all that glitters is gold: off-target recombination in the somatostatin-IRES-Cre mouse line labels a subset of fast-spiking interneurons","volume":"7","author":"Hu","year":"2013","journal-title":"Front. Neural Circuits"},{"key":"B13","doi-asserted-by":"publisher","first-page":"2837","DOI":"10.1242\/dev.150664","article-title":"Coup-TF1 and coup-TF2 control subtype and laminar identity of MGE-derived neocortical interneurons","volume":"144","author":"Hu","year":"","journal-title":"Development"},{"key":"B14","doi-asserted-by":"publisher","first-page":"3867","DOI":"10.1242\/dev.132852","article-title":"Cortical interneuron development: a tale of time and space","volume":"144","author":"Hu","year":"","journal-title":"Development"},{"key":"B15","doi-asserted-by":"publisher","first-page":"1694","DOI":"10.1038\/s41593-017-0013-0","article-title":"Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior","volume":"20","author":"Jung","year":"2017","journal-title":"Nat. Neurosci."},{"key":"B16","doi-asserted-by":"publisher","first-page":"e35003","DOI":"10.1371\/journal.pone.0035003","article-title":"High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism","volume":"7","author":"Kelleher","year":"2012","journal-title":"PLoS One"},{"key":"B17","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.conb.2013.12.012","article-title":"Genetic programs controlling cortical interneuron fate","volume":"26","author":"Kessaris","year":"2014","journal-title":"Curr. Opin. Neurobiol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"5426","DOI":"10.1038\/s41467-019-13396-8","article-title":"TSC1-mTORC1 signaling controls striatal dopamine release and cognitive flexibility","volume":"10","author":"Kosillo","year":"2019","journal-title":"Nat. Commun."},{"key":"B19","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1093\/hmg\/11.5.525","article-title":"A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas and up-regulation of p70S6 kinase activity in TSC1 null cells","volume":"11","author":"Kwiatkowski","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1038\/nn.2467","article-title":"A robust and high-throughput cre reporting and characterization system for the whole mouse brain","volume":"13","author":"Madisen","year":"2010","journal-title":"Nat. Neurosci."},{"key":"B21","doi-asserted-by":"publisher","first-page":"4994","DOI":"10.1038\/s41467-019-12962-4","article-title":"TSC1 represses parvalbumin expression and fast-spiking properties in somatostatin lineage cortical interneurons","volume":"10","author":"Malik","year":"2019","journal-title":"Nat. Commun."},{"key":"B22","doi-asserted-by":"publisher","first-page":"1582","DOI":"10.1523\/JNEUROSCI.4515-09.2010","article-title":"Genetic fate mapping reveals that the caudal ganglionic eminence produces a large and diverse population of superficial cortical interneurons","volume":"30","author":"Miyoshi","year":"2010","journal-title":"J. Neurosci."},{"key":"B23","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1016\/j.neuron.2013.03.030","article-title":"Temporal and mosaic TSC1 deletion in the developing thalamus disrupts thalamocortical circuitry, neural function and behavior","volume":"78","author":"Normand","year":"2013","journal-title":"Neuron"},{"key":"B24","doi-asserted-by":"publisher","first-page":"3797","DOI":"10.1093\/cercor\/bhx241","article-title":"Dlx1 and Dlx2 promote interneuron GABA synthesis, synaptogenesis and dendritogenesis","volume":"28","author":"Pla","year":"2018","journal-title":"Cereb. Cortex"},{"key":"B26","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1111\/dmcn.12278","article-title":"The genetic landscape of autism spectrum disorders","volume":"56","author":"Rosti","year":"2014","journal-title":"Dev. Med. Child Neurol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"3366","DOI":"10.1093\/hmg\/ddr243","article-title":"Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders","volume":"20","author":"Schaaf","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1787","DOI":"10.1002\/aur.1835","article-title":"Decreased parvalbumin mRNA levels in cerebellar purkinje cells in autism","volume":"10","author":"Soghomonian","year":"2017","journal-title":"Autism Res."},{"key":"B29","doi-asserted-by":"publisher","first-page":"1727","DOI":"10.1038\/nn1566","article-title":"Regulation of neuronal morphology and function by the tumor suppressors TSC1 and TSC2","volume":"8","author":"Tavazoie","year":"2005","journal-title":"Nat. Neurosci."},{"key":"B30","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1016\/j.celrep.2015.04.019","article-title":"The parvalbumin\/somatostatin ratio is increased in pten mutant mice and by human PTEN ASD alleles","volume":"11","author":"Vogt","year":"","journal-title":"Cell Rep."},{"key":"B31","doi-asserted-by":"publisher","first-page":"3868","DOI":"10.1093\/cercor\/bhx248","article-title":"Mouse Cntnap2 and human CNTNAP2 ASD alleles cell autonomously regulate PV+ cortical interneurons","volume":"28","author":"Vogt","year":"2018","journal-title":"Cereb. Cortex"},{"key":"B32","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1016\/j.neuron.2014.02.030","article-title":"Lhx6 directly regulates Arx and CXCR7 to determine cortical interneuron fate and laminar position","volume":"82","author":"Vogt","year":"2014","journal-title":"Neuron"},{"key":"B33","doi-asserted-by":"publisher","first-page":"52740","DOI":"10.3791\/52740","article-title":"Viral-mediated labeling and transplantation of medial ganglionic eminence (MGE) cells for in vivo studies","volume":"98","author":"Vogt","year":"","journal-title":"J. Vis. Exp."},{"key":"B34","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1038\/nrn1954","article-title":"The origin and specification of cortical interneurons","volume":"7","author":"Wonders","year":"2006","journal-title":"Nat. Rev. Neurosci."},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1101\/2020.06.01.128611","article-title":"A human TSC1 mutation screening platform in GABAergic cortical interneurons for genotype to phenotype assessments","author":"Wundrach","year":"2020","journal-title":"BioRxiv"}],"container-title":["Frontiers in Molecular Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnmol.2020.573409\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T05:39:28Z","timestamp":1600839568000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnmol.2020.573409\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,18]]},"references-count":35,"alternative-id":["10.3389\/fnmol.2020.573409"],"URL":"https:\/\/doi.org\/10.3389\/fnmol.2020.573409","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.06.01.128611","asserted-by":"object"}]},"ISSN":["1662-5099"],"issn-type":[{"value":"1662-5099","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,18]]},"article-number":"573409"}}