Cortical interneuron development is affected in 4H leukodystrophy 63 2 Dorboz, I., Dumay-Odelot, H., Boussaid, K., Bouyacoub, Y., Barreau, P., Samaan, S., Jmel, H., Eymard-Pierre, E., Cances, C., Bar, C., Poulat, A. L., Rousselle, C., Renaldo, F., Elmaleh-Berges, M., Teichmann, M., & Boespflug-Tanguy, O. (2018). Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation. Neurol Genet, 4(6), e289. https://doi.org/10.1212/NXG.0000000000000289 Esclapez, M., & Houser, C. R. (1999). Up-regulation of GAD65 and GAD67 in remaining hippocampal GABA neurons in a model of temporal lobe epilepsy. Journal of Comparative Neurology, 412(3), 488-505. https://doi.org/https://doi.org/10.1002/(SICI)1096-9861(19990927)412:3<488::AID-CNE8>3.0.CO;2-6 Flandin, P., Zhao, Y., Vogt, D., Jeong, J., Long, J., Potter, G., Westphal, H., & Rubenstein, J. L. (2011). Lhx6 and Lhx8 coordinately induce neuronal expression of Shh that controls the generation of interneuron progenitors. Neuron, 70(5), 939-950. https://doi.org/10.1016/j.neuron.2011.04.020 Francis-West, P., Ladher, R., Barlow, A., & Graveson, A. (1998). Signalling interactions during facial development. Mech Dev, 75(1-2), 3-28. https://doi.org/10.1016/s0925-4773(98)00082-3 Fung, S. J., Webster, M. J., Sivagnanasundaram, S., Duncan, C., Elashoff, M., & Weickert, C. S. (2010). Expression of interneuron markers in the dorsolateral prefrontal cortex of the developing human and in schizophrenia. Am J Psychiatry, 167(12), 1479-1488. https://doi.org/10.1176/appi.ajp.2010.09060784 Gecz, J., Cloosterman, D., & Partington, M. (2006). ARX: a gene for all seasons. Curr Opin Genet Dev, 16(3), 308316. https://doi.org/10.1016/j.gde.2006.04.003 Hardcastle, Z., Mo, R., Hui, C. C., & Sharpe, P. T. (1998). The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants. Development, 125(15), 2803-2811. https://doi.org/10.1242/dev.125.15.2803 Harting, I., Al-Saady, M., Krageloh-Mann, I., Bley, A., Hempel, M., Bierhals, T., Karch, S., Moog, U., Bernard, G., Huntsman, R., van Spaendonk, R. M. L., Vreeburg, M., Rodriguez-Palmero, A., Pujol, A., van der Knaap, M. S., Pouwels, P. J. W., & Wolf, N. I. (2020). POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics, 21(2), 121-133. https://doi.org/10.1007/s10048019-00602-4 Helman, G., Van Haren, K., Bonkowsky, J. L., Bernard, G., Pizzino, A., Braverman, N., Suhr, D., Patterson, M. C., Ali Fatemi, S., Leonard, J., van der Knaap, M. S., Back, S. A., Damiani, S., Goldman, S. A., Takanohashi, A., Petryniak, M., Rowitch, D., Messing, A., Wrabetz, L., . . . Consortium, G. (2015). Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab, 114(4), 527-536. https://doi.org/10.1016/j.ymgme.2015.01.014 Hirai, H., Pang, Z., Bao, D., Miyazaki, T., Li, L., Miura, E., Parris, J., Rong, Y., Watanabe, M., Yuzaki, M., & Morgan, J. I. (2005). Cbln1 is essential for synaptic integrity and plasticity in the cerebellum. Nat Neurosci, 8(11), 1534-1541. https://doi.org/10.1038/nn1576 Holmes, D. B., & Heine, V. M. (2017a). Simplified 3D protocol capable of generating early cortical neuroepithelium. Biol Open, 6(3), 402-406. https://doi.org/10.1242/bio.021725 Holmes, D. B., & Heine, V. M. (2017b). Streamlined 3D Cerebellar Differentiation Protocol with Optional 2D Modification. Jove-Journal of Visualized Experiments(130). https://doi.org/ARTN e56888 10.3791/56888 Joseph, D. J., Von Deimling, M., Hasegawa, Y., Cristancho, A. G., Ahrens-Nicklas, R. C., Rogers, S. L., Risbud, R., McCoy, A. J., & Marsh, E. D. (2021). Postnatal Arx transcriptional activity regulates functional properties of PV interneurons. iScience, 24(1), 101999. https://doi.org/10.1016/j.isci.2020.101999
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