MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention
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MYT1L is an autism spectrum disorder (ASD)-associated transcription factor that is expressed in virtually all neurons throughout life. How MYT1L mutations cause neurological phenotypes and whether they can be targeted remains enigmatic. Here, we examine the effects of MYT1L deficiency in human neurons and mice. Mutant mice exhibit neurodevelopmental delays with thinner cortices, behavioural phenotypes, and gene expression changes that resemble those of ASD patients. MYT1L target genes, including WNT and NOTCH, are activated upon MYT1L depletion and their chemical inhibition can rescue delayed neurogenesis in vitro. MYT1L deficiency also causes upregulation of the main cardiac sodium channel, SCN5A, and neuronal hyperactivity, which could be restored by shRNA-mediated knockdown of SCN5A or MYT1L overexpression in postmitotic neurons. Acute application of the sodium channel blocker, lamotrigine, also rescued electrophysiological defects in vitro and behaviour phenotypes in vivo. Hence, MYT1L mutation causes both developmental and postmitotic neurological defects. However, acute intervention can normalise resulting electrophysiological and behavioural phenotypes in adulthood.
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MYT1L loss of function is associated with mental disorders and brain cancer.
“its loss of function is associated with mental disorders and brain cancer13,14.”
From Active repression of cell fate plasticity by PROX1 safeguards hepatocyte identity and prevents liver tumorigenesis (2025) · cites this paper as [14]
The Discussion (page unavailable) links MYT1L deficiency to neurodevelopmental and neuropsychiatric phenotypes, including ASD and schizophrenia. Our copy does not support the additional association with brain cancer; a search for cancer found no relevant passage. (LLM, conf=0.88)
Experimental — accuracy not yet measuredMYT1L is expressed lifelong.
“MYT1L is expressed lifelong”
From Active repression of cell fate plasticity by PROX1 safeguards hepatocyte identity and prevents liver tumorigenesis (2025) · cites this paper as [14]
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Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Love, M. I., Huber, W., & Anders, S. (2014) · Genome Biology · doi:10.1186/s13059-014-0550-8 · Cited by 95,106 · see citing works
Fiji: an open-source platform for biological-image analysis
Schindelin, J., Arganda-Carreras, I., Frise, E., Kaynig, V., Longair, M., Pietzsch, T., Preibisch, S., Rueden, C., Saalfeld, S., Schmid, B., et al. (2012) · Nature Methods · doi:10.1038/nmeth.2019 · Cited by 66,890 · see citing works
STAR: ultrafast universal RNA-seq aligner
Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709 · see citing works
Integrated analysis of multimodal single-cell data
Hao, Y., Hao, S., Andersen-Nissen, E., Mauck, W. M., Zheng, S., Butler, A., Lee, M. J., Wilk, A. J., Darby, C., Zagar, M., et al. (2020) · doi:10.1101/2020.10.12.335331 · Cited by 15,508 · see citing works
SCANPY: large-scale single-cell gene expression data analysis
Wolf, F. A., Angerer, P., & Theis, F. J. (2018) · Genome Biology · doi:10.1186/s13059-017-1382-0 · Cited by 8,881 · see citing works
Massively parallel digital transcriptional profiling of single cells
Zheng, G. X. Y., Terry, J. M., Belgrader, P., Ryvkin, P., Bent, Z. W., Wilson, R., Ziraldo, S. B., Wheeler, T. D., McDermott, G. P., Zhu, J., et al. (2017) · Nature Communications · doi:10.1038/ncomms14049 · Cited by 7,353 · see citing works
The GTEx Consortium atlas of genetic regulatory effects across human tissues
The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science · doi:10.1126/science.aaz1776 · Cited by 5,547 · see citing works
Finak, G., McDavid, A., Yajima, M., Deng, J., Gersuk, V., Shalek, A. K., Slichter, C. K., Miller, H. W., McElrath, M. J., Prlic, M., et al. (2015) · Genome Biology · doi:10.1186/s13059-015-0844-5 · Cited by 3,159 · see citing works
Direct conversion of fibroblasts to functional neurons by defined factors
Vierbuchen, T., Ostermeier, A., Pang, Z. P., Kokubu, Y., Südhof, T. C., & Wernig, M. (2010) · Nature · doi:10.1038/nature08797 · Cited by 3,017 · see citing works
Lord, C., Elsabbagh, M., Baird, G., & Veenstra-Vanderweele, J. (2018) · The Lancet · doi:10.1016/s0140-6736(18)31129-2 · Cited by 2,819 · see citing works
Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell · doi:10.1016/j.cell.2019.12.036 · Cited by 2,321 · see citing works
Spatio-temporal transcriptome of the human brain
Kang, H. J., Kawasawa, Y. I., Cheng, F., Zhu, Y., Xu, X., Li, M., Sousa, A. M. M., Pletikos, M., Meyer, K. A., Sedmak, G., et al. (2011) · Nature · doi:10.1038/nature10523 · Cited by 2,084 · see citing works
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874 · cited 1× · see citing works
“Finally, we discovered that genes upregulated in ASD patients are also upregulated in our MYT1Ldeficient mice, while genes downregulated in Myt1l-mutant mice are also downregulated in ASD patients [5, 50] (Fig.”
BackgroundRapid single-step induction of functional neurons from human pluripotent stem cells
Zhang, Y., Pak, C., Han, Y., Ahlenius, H., Zhang, Z., Chanda, S., Marro, S., Patzke, C., Acuna, C., Covy, J., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.05.029 · Cited by 1,644 · see citing works
Self-citationAmaral, D. G., Schumann, C. M., & Nordahl, C. W. (2008) · Trends in Neurosciences · doi:10.1016/j.tins.2007.12.005 · Cited by 1,492 · see citing works
The neurobiology of antiepileptic drugs
Rogawski, M. A., & Löscher, W. (2004) · Nature reviews. Neuroscience · doi:10.1038/nrn1430 · Cited by 1,243 · see citing works
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Bourgeron, T. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3992 · Cited by 975 · see citing works
Gene expression across mammalian organ development
Cardoso-Moreira, M., Halbert, J., Valloton, D., Velten, B., Chen, C., Shao, Y., Liechti, A., Ascenção, K., Rummel, C., Ovchinnikova, S., et al. (2019) · Nature · doi:10.1038/s41586-019-1338-5 · Cited by 838 · see citing works
Targeted in situ genome-wide profiling with high efficiency for low cell numbers
Skene, P. J., Henikoff, J. G., & Henikoff, S. (2018) · Nature Protocols · doi:10.1038/nprot.2018.015 · Cited by 803 · see citing works
Comprehensive comparative analysis of strand-specific RNA sequencing methods
Levin, J. Z., Yassour, M., Adiconis, X., Nusbaum, C., Thompson, D. A., Friedman, N., Gnirke, A., & Regev, A. (2010) · Nature Methods · doi:10.1038/nmeth.1491 · Cited by 753 · see citing works
The Sox9 transcription factor determines glial fate choice in the developing spinal cord
Stolt, C. C., Lommes, P., Sock, E., Chaboissier, M.-C., Schedl, A., & Wegner, M. (2003) · Genes & Development · doi:10.1101/gad.259003 · Cited by 636 · see citing works
Cardiac conduction defects associate with mutations in SCN5A
Schott, J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M. M. F., Wilde, A. A. M., Escande, D., Mannens, M. M. A. M., & Marec, H. L. (1999) · Nature Genetics · doi:10.1038/12618 · Cited by 634 · see citing works
Mimitou, E. P., Cheng, A., Montalbano, A., Hao, S., Stoeckius, M., Legut, M., Roush, T., Herrera, A., Papalexi, E., Ouyang, Z., et al. (2019) · Nature Methods · doi:10.1038/s41592-019-0392-0 · Cited by 520 · see citing works
Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
Liu, X. S., Wu, H., Krzisch, M., Wu, X., Graef, J. D., Muffat, J., Hnisz, D., Li, C. H., Yuan, B., Xu, C., et al. (2018) · Cell · doi:10.1016/j.cell.2018.01.012 · Cited by 506 · see citing works
SNT: a unifying toolbox for quantification of neuronal anatomy
Arshadi, C., Günther, U., Eddison, M., Harrington, K., & Ferreira, T. (2021) · Nature Methods · doi:10.1038/s41592-021-01105-7 · Cited by 473 · see citing works
Dissecting direct reprogramming from fibroblast to neuron using single-cell RNA-seq
Treutlein, B., Lee, Q. Y., Camp, J. G., Mall, M., Koh, W. L. C., Shariati, S. A., Sim, S., Neff, N. F., Skotheim, J. M., Wernig, M., et al. (2016) · Nature · doi:10.1038/nature18323 · Cited by 442 · see citing works
Self-citationCHD8 haploinsufficiency results in autistic-like phenotypes in mice
Katayama, Y., Nishiyama, M., Shoji, H., Ohkawa, Y., Kawamura, A., Sato, T., Suyama, M., Takumi, T., Miyakawa, T., & Nakayama, K. I. (2016) · Nature · doi:10.1038/nature19357 · Cited by 353 · see citing works
Martin, J. F., Bradley, A., & Olson, E. N. (1995) · Genes & Development · doi:10.1101/gad.9.10.1237 · Cited by 351 · see citing works
Genomic Patterns of De Novo Mutation in Simplex Autism
Turner, T. N., Coe, B. P., Dickel, D. E., Hoekzema, K., Nelson, B. J., Zody, M. C., Kronenberg, Z. N., Hormozdiari, F., Raja, A. N., Pennacchio, L. A., et al. (2017) · Cell · doi:10.1016/j.cell.2017.08.047 · Cited by 330 · see citing works
Yi, F., Danko, T., Botelho, S. C., Patzke, C., Pak, C., Wernig, M., & Südhof, T. C. (2016) · Science · doi:10.1126/science.aaf2669 · Cited by 313 · see citing works
Single-cell transcriptomic analysis of mouse neocortical development
Loo, L., Simon, J. M., Xing, L., McCoy, E. S., Niehaus, J. K., Guo, J., Anton, E. S., & Zylka, M. J. (2019) · Nature Communications · doi:10.1038/s41467-018-08079-9 · Cited by 289 · see citing works
Elmquist, J. K., Breder, C. D., Sherin, J. E., Scammell, T. E., Hickey, W. F., DeWitt, D. L., & Saper, C. B. (1997) · The Journal of Comparative Neurology · doi:10.1002/(sici)1096-9861(19970505)381:2 · Cited by 282 · see citing works
Germline Chd8 haploinsufficiency alters brain development in mouse
Gompers, A. L., Su-Feher, L., Ellegood, J., Copping, N. A., Riyadh, M. A., Stradleigh, T. W., Pride, M. C., Schaffler, M. D., Wade, A. A., Catta-Preta, R., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4592 · Cited by 266 · see citing works
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus
Satoda, M., Zhao, F., Díaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E., & Gelb, B. D. (2000) · Nature Genetics · doi:10.1038/75578 · Cited by 261 · see citing works
The discovery of integrated gene networks for autism and related disorders
Hormozdiari, F., Penn, O., Borenstein, E., & Eichler, E. E. (2015) · Genome Research · doi:10.1101/gr.178855.114 · Cited by 249 · see citing works
Age-dependent instability of mature neuronal fate in induced neurons from Alzheimer’s patients
Mertens, J., Herdy, J. R., Traxler, L., Schafer, S. T., Schlachetzki, J. C. M., Böhnke, L., Reid, D. A., Lee, H., Zangwill, D., Fernandes, D. P., et al. (2021) · Cell Stem Cell · doi:10.1016/j.stem.2021.04.004 · Cited by 240 · see citing works
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders
Heyes, S., Pratt, W. S., Rees, E., Dahimène, S., Ferron, L., Owen, M. J., & DOLPHIN, A. C. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.09.002 · Cited by 234 · see citing works
Quantifying the effect of experimental perturbations at single-cell resolution
Burkhardt, D. B., Stanley, J. S., Tong, A., Perdigoto, A. L., Gigante, S. A., Herold, K. C., Wolf, G., Giraldez, A. J., van Dijk, D., & Krishnaswamy, S. (2021) · Nature Biotechnology · doi:10.1038/s41587-020-00803-5 · Cited by 226 · see citing works
Myt1l safeguards neuronal identity by actively repressing many non-neuronal fates
Mall, M., Kareta, M. S., Chanda, S., Ahlenius, H., Perotti, N., Zhou, B., Grieder, S. D., Ge, X., Drake, S., Euong Ang, C., et al. (2017) · Nature · doi:10.1038/nature21722 · Cited by 225 · see citing works
Self-citationPak, C., Dankó, T., Zhang, Y., Aoto, J. N., Anderson, G. R., Maxeiner, S., Yi, F., Wernig, M., & Südhof, T. C. (2015) · Cell stem cell · doi:10.1016/j.stem.2015.07.017 · Cited by 217 · see citing works
Samaco, R. C., Fryer, J. D., Ren, J. T., Fyffe-Maricich, S. L., Chao, H.-T., Sun, Y., Greer, J. J., Zoghbi, H. Y., & Neul, J. L. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn062 · Cited by 189 · see citing works
Miller, S. A., Policastro, R. A., Sriramkumar, S., Lai, T., Huntington, T. D., Ladaika, C. A., Kim, D.-H., Hao, C., Zentner, G. E., & O’Hagan, H. M. (2021) · Cancer Research · doi:10.1158/0008-5472.can-20-3562 · Cited by 180 · see citing works
Chromatin Regulation by BAF170 Controls Cerebral Cortical Size and Thickness
Tuoc, T. C., Boretius, S., Sansom, S. N., Pitulescu, M.-E., Frahm, J., Livesey, F. J., & Stoykova, A. (2013) · Developmental Cell · doi:10.1016/j.devcel.2013.04.005 · Cited by 177 · see citing works
Monitoring synaptic transmission in primary neuronal cultures using local extracellular stimulation
Maximov, A., Pang, Z. P., Tervo, D. G. R., & Südhof, T. C. (2006) · Journal of Neuroscience Methods · doi:10.1016/j.jneumeth.2006.10.009 · Cited by 138 · see citing works
A framework for an evidence-based gene list relevant to autism spectrum disorder
Schaaf, C. P., Betancur, C., Yuen, R. K. C., Parr, J. R., Skuse, D., Gallagher, L., Bernier, R., Buchanan, J. A., Buxbaum, J. D., Chen, C., et al. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0231-2 · Cited by 137 · see citing works
Neuronal impact of patient-specific aberrant NRXN1α splicing
Flaherty, E. K., Zhu, S., Barretto, N., Cheng, E., Deans, P. J. M., Fernando, M. B., Schrode, N., Francoeur, N. J., Antoine, A., Alganem, K., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0539-z · Cited by 130 · see citing works
Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders
Andrade, A., Brennecke, A., Mallat, S., Brown, J., Gomez-Rivadeneira, J., Czepiel, N., & Londrigan, L. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20143537 · Cited by 127 · see citing works
Highly multiplexed single-cell RNA-seq by DNA oligonucleotide tagging of cellular proteins
Gehring, J., Hwee Park, J., Chen, S., Thomson, M., & Pachter, L. (2020) · Nature Biotechnology · doi:10.1038/s41587-019-0372-z · Cited by 122 · see citing works
Myt1 family recruits histone deacetylase to regulate neural transcription
Romm, E., Nielsen, J. A., Kim, J. G., & Hudson, L. D. (2005) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2005.03131.x · Cited by 117 · see citing works
Eadie, B. D., Zhang, W. N., Boehme, F., Gil‐Mohapel, J., Kainer, L., Simpson, J. M., & Christie, B. R. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.08.001 · Cited by 94 · see citing works
EpilepsyGene: a genetic resource for genes and mutations related to epilepsy
Xia, R., Li, J., Shao, Q., Chen, H., Lin, Z., Sun, Z. S., & Wu, J. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku943 · Cited by 86 · see citing works
Blanchet, P., Bebin, M., Bruet, S., Cooper, G. M., Thompson, M. L., Duban‐Bedu, B., Gérard, B., Piton, A., Sukno, S., Deshpande, C., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006957 · Cited by 84 · see citing works
Dedifferentiation and neuronal repression define familial Alzheimer’s disease
Caldwell, A. B., Liu, Q., Schroth, G. P., Galasko, D. R., Yuan, S. H., Wagner, S. L., & Subramaniam, S. (2020) · Science Advances · doi:10.1126/sciadv.aba5933 · Cited by 69 · see citing works
A calcium antagonistic effect of the new antiepileptic drug lamotrigine.
von Wegerer, J., Hesslinger, B., Berger, M., & Walden, J. (1997) · European Neuropsychopharmacology · doi:10.1016/s0924-977x(96)00384-7 · Cited by 65 · see citing works
MyT1 Counteracts the Neural Progenitor Program to Promote Vertebrate Neurogenesis
Vasconcelos, F. F., Sessa, A., Laranjeira, C., Raposo, A. A. S. F., Teixeira, V., Hagey, D. W., Tomaz, D. M., Muhr, J., Broccoli, V., & Castro, D. S. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.09.024 · Cited by 62 · see citing works
Chen, J., Lambo, M. E., Ge, X., Dearborn, J. T., Liu, Y., McCullough, K. B., Swift, R. G., Tabachnick, D. R., Tian, L., Noguchi, K., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.09.009 · Cited by 61 · see citing works
Self-citationChanda, S., Ang, C. E., Lee, Q. Y., Ghebrial, M., Haag, D., Shibuya, Y., Wernig, M., & Südhof, T. C. (2019) · Cell stem cell · doi:10.1016/j.stem.2019.04.021 · Cited by 58 · see citing works
Rocker, N. D., Vergult, S., Koolen, D. A., Jacobs, E., Hoischen, A., Zeesman, S., Bang, B., Béna, F., Bockaert, N., Bongers, E. M. H. F., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.124 · Cited by 58 · see citing works
Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells
Avazzadeh, S., McDonagh, K., Reilly, J., Wang, Y., Boomkamp, S. D., McInerney, V., Krawczyk, J., Fitzgerald, J., Feerick, N., O’Sullivan, M., et al. (2019) · Molecular Autism · doi:10.1186/s13229-019-0303-3 · Cited by 55 · see citing works
Tuoc, T., Dere, E., Radyushkin, K., Pham, L., Nguyen, H., Tonchev, A. B., Sun, G., Ronnenberg, A., Shi, Y., Staiger, J. F., et al. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9948-5 · Cited by 52 · see citing works
Pro-neuronal activity of Myod1 due to promiscuous binding to neuronal genes
Lee, Q. Y., Mall, M., Chanda, S., Zhou, B., Sharma, K. S., Schaukowitch, K., Adrian-Segarra, J. M., Grieder, S. D., Kareta, M. S., Wapinski, O. L., et al. (2020) · Nature Cell Biology · doi:10.1038/s41556-020-0490-3 · Cited by 50 · see citing works
Self-citationMicroduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia
Lee, Y., Mattai, A. A., Long, R. T. L., Rapoport, J. L., Gogtay, N., & Addington, A. M. (2012) · Psychiatric Genetics · doi:10.1097/ypg.0b013e328353ae3d · Cited by 48 · see citing works
Rapid Dynamic Changes of Dendritic Inhibition in the Dentate Gyrus by Presynaptic Activity Patterns
Liu, Y., Cheng, J., & Lien, C. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.2566-13.2014 · Cited by 45 · see citing works
Self-citationMatsushita, F., Kameyama, T., Kadokawa, Y., & Marunouchi, T. (2013) · Developmental Dynamics · doi:10.1002/dvdy.24091 · Cited by 44 · see citing works
meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays
Gelfman, S., Wang, Q., Lu, Y., Hall, D., Bostick, C. D., Dhindsa, R. S., Halvorsen, M., McSweeney, K. M., Cotterill, E., Edinburgh, T., et al. (2018) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1006506 · Cited by 35 · see citing works
Ohtsuka, T., & Kageyama, R. (2021) · Development · doi:10.1242/dev.189191 · Cited by 31 · see citing works
Coursimault, J., Guerrot, A., Morrow, M. M., Schramm, C., Zamora, F. M., Shanmugham, A., Liu, S., Zou, F., Bilan, F., Guyader, G. L., et al. (2021) · Human Genetics · doi:10.1007/s00439-021-02383-z · Cited by 30 · see citing works
A novel MYT1L mutation in a patient with severe early‐onset obesity and intellectual disability
Loid, P., Mäkitie, R. E., Costantini, A., Viljakainen, H. T., Pekkinen, M., & Mäkitie, O. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40370 · Cited by 29 · see citing works
Analysis of transcriptional activity by the Myt1 and Myt1l transcription factors
Manukyan, A., Kowalczyk, I., Melhuish, T. A., Patriotis, A. L., & Wotton, D. (2018) · Journal of Cellular Biochemistry · doi:10.1002/jcb.26636 · Cited by 28 · see citing works
Mansfield, P., Constantino, J. N., & Baldridge, D. (2020) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32781 · Cited by 27 · see citing works
Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice
Wöhr, M., Fong, W. M., Janas, J. A., Mall, M., Thome, C., Vangipuram, M., Meng, L., Südhof, T. C., & Wernig, M. (2022) · Molecular Autism · doi:10.1186/s13229-022-00497-3 · Cited by 25 · see citing works
Self-citationNine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser, I. C., Becker, J., Cremer, K., Hundertmark, H., Yates, L. M., Mangold, E., Peters, S., Degenhardt, F., Ludwig, K. U., Zink, A. M., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61515 · Cited by 25 · see citing works
Tuwaijri, A. A., & Alfadhel, M. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2018-0505 · Cited by 20 · see citing works
MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brainPreprint
Chen, J., Fuhler, N. A., Noguchi, K. K., & Dougherty, J. D. (2023) · Genome Research · doi:10.1101/gr.277413.122 · Cited by 19 · see citing works
Kim, S., Oh, H., Choi, S. H., Yoo, Y.-E., Noh, Y. W., Cho, Y., Im, G. H., Lee, C., Oh, Y., Yang, E., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111398 · Cited by 19 · see citing works
MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brainPreprint
Chen, J., Fuhler, N. A., Noguchi, K., & Dougherty, J. D. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.17.512591 · Cited by 2 · see citing works
The MyT1 family recruits histone deacetylase to regulate neural transcription
Romm, E., Kim, J., Kim, N. W., Nagle, J., & Hudson, L. D. (2002) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.81.s1.1_2.x · Cited by 2 · see citing works
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Xu, Y., Lou, D., Chen, P., Li, G., Usoskin, D., Pan, J., Li, F., Huang, S., Hess, C., Tang, R., et al. (2025) · Developmental Cell · doi:10.1016/j.devcel.2025.04.013 · Cited by 21 · see citing works
Canalizing cell fate by transcriptional repression
Lim, B., Domsch, K., Mall, M., & Lohmann, I. (2024) · Molecular Systems Biology · doi:10.1038/s44320-024-00014-z · Cited by 19 · see citing works
Self-citationLim, B., Kamal, A., Gomez Ramos, B., Adrian Segarra, J. M., Ibarra, I. L., Dignas, L., Kindinger, T., Volz, K., Rahbari, M., Rahbari, N., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02081-w · Cited by 17 · see citing works
Self-citationde Mello, F. N., Tahira, A. C., Berzoti-Coelho, M. G., & Verjovski‐Almeida, S. (2023) · Briefings in Bioinformatics · doi:10.1093/bib/bbad538 · Cited by 18 · see citing works
MYT1L deficiency impairs excitatory neuron trajectory during cortical development
Yen, A., Sarafinovska, S., Chen, X., Skinner, D. D., Leti, F., Crosby, M., Hoisington‐Lopez, J., Wu, Y., Chen, J., Li, Z. A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-54371-2 · Cited by 15 · see citing works
Murta, V., Seiffe, A., & Depino, A. M. (2023) · Sexes · doi:10.3390/sexes4030024 · Cited by 12 · see citing works
Porter, R. S., An, S., Gavilán, M. C., Nagai, M., Murata-Nakamura, Y., Zhou, B. O., Bonefas, K. M., Dionne, O., Manuel, J. M., St-Germain, J., et al. (2025) · Cell Reports · doi:10.1016/j.celrep.2024.115213 · Cited by 8 · see citing works
Neuronal splicing of the unmethylated histone H3K4 reader, PHF21A, prevents excessive synaptogenesis
Nagai, M., Porter, R. S., Miyasato, M., Wang, A., Gavilan, C. M., Hughes, E. D., Wu, M. C., Saunders, T. L., & Iwase, S. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.107881 · Cited by 7 · see citing works
Chang, X., Li, W., Matsui, S., Huynh, C., Erickson, C. A., Guo, F., Cederquist, G., Studer, L., Iwafuchi, M., Shillington, A., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-64063-0 · Cited by 6 · see citing works
Insights and applications of direct neuronal reprogramming
Schaukowitch, K., Janas, J. A., & Wernig, M. (2023) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2023.102128 · Cited by 7 · see citing works
Sheu, J. J., Lin, W., Liu, T., Chang, C. Y., Cheng, J., Li, Y.-H., Chen, C., Tseng, C.-C., Ding, W. Y., Chung, C., et al. (2024) · Journal of Human Genetics · doi:10.1038/s10038-024-01270-5 · Cited by 6 · see citing works
Barón-Mendoza, I., Márquez, L. A., Arenas, A., Guzmán-Condado, J., Martínez-Rojas, V. A., Anguiano-Buenfil, J., Mejía-Hernández, M., Almazán, J. L., Pérez‐Martínez, L., Pedraza‐Alva, G., et al. (2025) · Scientific Reports · doi:10.1038/s41598-024-84521-x · Cited by 4 · see citing works
Prakasam, R., Determan, J. J., Chapman, G., Narasimhan, M., Shen, R., Saleh, M., Kaushik, K., Gontarz, P. M., Meganathan, K., Hakim, B., et al. (2025) · Stem Cell Reports · doi:10.1016/j.stemcr.2025.102421 · Cited by 4 · see citing works
Maloney, S. E., McCullough, K. B., Chaturvedi, S. M., Selmanovic, D., Chase, R., Chen, J., Wu, S., Granadillo, J. L., Kroll, K. L., & Dougherty, J. D. (2025) · Hormones and Behavior · doi:10.1016/j.yhbeh.2025.105796 · Cited by 4 · see citing works
Stimulus-Dependent Expression of Bdnf Is Mediated by ATF2, MYT1L, and EGR1 Transcription Factors
Esvald, E., Moistus, A., Lehe, K., Avarlaid, A., Shubina, A., Kuusemets, L., Tuvikene, J., & Timmusk, T. (2025) · Journal of Neuroscience · doi:10.1523/jneurosci.0313-24.2025 · Cited by 3 · see citing works
Direct transdifferentiation of tumorigenic melanoma cells induces tumor cell reversion
Wang, Y., Liu, K., Zhang, Y., Novak, D., Federico, A., Xu, C., Horschitz, S., Vierthaler, M., Sun, Q., Wang, N., et al. (2025) · Cell Death and Disease · doi:10.1038/s41419-025-07863-y · Cited by 3 · see citing works
Self-citationLifespan in rodents with MYT1L heterozygous mutation
Schreiber, A., Swift, R. G., Wilson, L., Kroll, K. L., Dougherty, J. D., & Maloney, S. E. (2025) · Scientific Reports · doi:10.1038/s41598-025-88462-x · Cited by 3 · see citing works
Wawszczak-Kasza, M., Rachuna, J., Madej, Ł., Lewitowicz, W., Lewitowicz, P., & Horecka-Lewitowicz, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199672 · Cited by 3 · see citing works
Granadillo, J. L., Kaster, L., Lanzotti, V., Grewal, D., Schreiber, A., Abbacchi, A. M., Gurnett, C. A., Kroll, K. L., Baldridge, D., Hazlett, H. C., et al. (2026) · American Journal of Medical Genetics Part A · doi:10.64898/2025.12.01.25340510 · Cited by 2 · see citing works
Psychosis and autism spectrum disorder: a special issue of Molecular Psychiatry
Licinio, J., & Wong, M. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02250-5 · Cited by 2 · see citing works
Wang, W., Liu, Z., Peng, D., Lin, G. N., & Wang, Z. (2024) · BMC Genomics · doi:10.1186/s12864-024-10911-0 · Cited by 3 · see citing works
Zhang, M., Hai, S., Gao, X., Cui, Z., Yang, T., Wang, A., Lin, J., & Sun, X. (2025) · Experimental Neurology · doi:10.1016/j.expneurol.2025.115492 · Cited by 1 · see citing works
Buecking, J., Güler, B. E., Eibl, M., Ali, A. S., Walczuch, T., Beschauner, T., Theiß, S., Spanjaard, M., Hinderhofer, K., Herrmann-Sim, F., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.01.722223 · Cited by 1 · see citing works
Self-citationAutism-linked MYT1L mutations prompt ‘identity crisis’ in budding brain cells
Dattaro, L. (2023) · The Transmitter · doi:10.53053/qlyf4403
Mall, M., Lopes, M., & Pereira, C. (2024) · Cellular Reprogramming · doi:10.1089/cell.2024.36789.mor
Self-citationSader, M., Maloney, E., Waiter, G. D., Kerr‐Gaffney, J., Tchanturia, K., Gillespie‐Smith, K., & Duffy, F. (2024) · Autism in Adulthood · doi:10.1089/aut.2024.0184 · Cited by 1 · see citing works
Fuhler, N. A., Palmer, C., Tunzi, G., Tian, L., Fotedar, M., Chase, R., Prakasam, R., Maloney, S. E., Neblock, C. E., Chen, J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.27.662020
Gene dosage: Polyploidy protects against lethal X-dosage imbalance in male Drosophila
Cortez, K., & Larschan, E. (2026) · Current Biology · doi:10.1016/j.cub.2026.02.010
Varghese, N. B., Karunakaran, K. B., Bhat, K., Jain, S., Purushottam, M., & Singhai, K. (2026) · Indian Journal of Psychological Medicine · doi:10.1177/02537176261433412
Decision trees for managing genetically burdened laboratory animal lines under Directive 2010/63/EU
Reshetnykov, M., & Baumgart, J. (2026) · Laboratory Animals · doi:10.1177/00236772261459548
Safaiyan, S., Schmidt, M. V., Zimprich, A., Steiner, J., Schulte, E. C., Böhm, C., Spanagel, R., Dere, E., Zlomuzica, A., Fischer‐Posovszky, P., et al. (2026) · European Archives of Psychiatry and Clinical Neuroscience · doi:10.1007/s00406-026-02380-1
- Authors
- Weigel, B., Tegethoff, J. F., Grieder, S. D., Lim, B., Nagarajan, B., Liu, Y.-C., Truberg, J., Papageorgiou, D., Adrian-Segarra, J. M., Schmidt, L. K., Kaspar, J., Poisel, E., Heinzelmann, E., Saraswat, M., Christ, M., Arnold, C., Ibarra, I. L., Campos, J., Krijgsveld, J., Monyer, H., Zaugg, J. B., Acuna, C., & Mall, M.
- Affiliations
- German Cancer Research Center (DE)
- European Molecular Biology Laboratory (DE)
- Helmholtz Munich (DE)
- Heidelberg University (DE)
- Corresponding author
- Mall, Moritz
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2023-02-14
- Volume
- 28
- Issue
- 5
- Pages
- 2122-2135
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC10575775
- OpenAlex
- W4320481085
- Cited by
- 31
- References
- 78
- Citations by year
- 2026: 6 · 2025: 13 · 2024: 7 · 2023: 5
- FWCI
- 5.15
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Molecular Psychiatry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion, cc-by)
- Funders
- NASRAD, Hector Foundation
- Deutsche Forschungsgemeinschaft (SFB1324)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- MYT1L, haploinsufficiency, autism spectrum disorder, transcription factors, neurodevelopmental delay, cortical thinning, Wnt signaling, Notch signaling, SCN5A, cardiac sodium channel, neuronal hyperactivity, lamotrigine, sodium channel blockers, behavioral phenotypes, postmitotic neurons, gene therapy
- MeSH terms
- Autism Spectrum Disorder, Animals, Autistic Disorder, Humans, Nerve Tissue Proteins, Neurons, Phenotype, Transcription Factors, Mice, Haploinsufficiency, NAV1.5 Voltage-Gated Sodium Channel
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