Scientific Highlights

Articles
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Klei L, Wamsley B, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov A, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, MACIEL P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Chan MCY, Fallerini C, Giorgio E, Girard AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah I, Riberi E, Schmidt R, Smith M, Souza CIC, Trajkova S, Wang JYT, Yu MHC, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. “Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism”. Nature Genetics 54, 1320–1331 (2022). https://doi.org/10.1038/s41588-022-01104-0

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., Stevens, C., Reichert, J., Mulhern, M. S., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., Brand, H., … Buxbaum, J. D. (2020). Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell, 180(3), 568–584.e23. https://doi.org/10.1016/j.cell.2019.12.036

Barbosa, M., Joshi, R. S., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., Watson, C. T., Gibson, W., Chetnik, K., Tessereau, C., Mei, H., De Rubeis, S., Reichert, J., Lopes, F., Vissers, L. E. L. M., Kleefstra, T., Grice, D. E., Edelmann, L., Soares, G., Maciel, P., … Sharp, A. J. (2018). Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications, 9(1), 2064. https://doi.org/10.1038/s41467-018-04540-x

Lopes, F.*, Torres, F.*, Soares, G., Barbosa, M., Silva, J., Duque, F., Rocha, M., Sá, J., Oliveira, G., Sá, M. J., Temudo, T., Sousa, S., Marques, C., Lopes, S., Gomes, C., Barros, G., Jorge, A., Rocha, F., Martins, C., Mesquita, S., … Maciel, P. (2019). Genomic imbalances defining novel intellectual disability associated loci. Orphanet Journal of Rare diseases, 14(1), 164. https://doi.org/10.1186/s13023-019-1135-0

Duarte-Silva, S., Neves-Carvalho, A., Soares-Cunha, C., Silva, J. M., Teixeira-Castro, A., Vieira, R., Silva-Fernandes, A., & Maciel, P. (2018). Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3. Movement Disorders: official journal of the Movement Disorder Society, 33(5), 815–826. https://doi.org/10.1002/mds.27292

Lopes, F.*, Barbosa, M.*, Ameur, A., Soares, G., de Sá, J., Dias, A. I., Oliveira, G., Cabral, P., Temudo, T., Calado, E., Cruz, I. F., Vieira, J. P., Oliveira, R., Esteves, S., Sauer, S., Jonasson, I., Syvänen, A. C., Gyllensten, U., Pinto, D., & Maciel, P. (2016). Identification of novel genetic causes of Rett syndrome-like phenotypes. Journal of Medical Genetics, 53(3), 190–199. https://doi.org/10.1136/jmedgenet-2015-103568

Teixeira-Castro, A.*, Jalles, A.*, Esteves, S.*, Kang, S., da Silva Santos, L., Silva-Fernandes, A., Neto, M. F., Brielmann, R. M., Bessa, C., Duarte-Silva, S., Miranda, A., Oliveira, S., Neves-Carvalho, A., Bessa, J., Summavielle, T., Silverman, R. B., Oliveira, P., Morimoto, R. I., & Maciel, P. (2015). Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. Brain: a journal of neurology, 138(Pt 11), 3221–3237. https://doi.org/10.1093/brain/awv262

Neves-Carvalho, A., Logarinho, E., Freitas, A., Duarte-Silva, S., Costa, M.doC., Silva-Fernandes, A., Martins, M., Serra, S. C., Lopes, A. T., Paulson, H. L., Heutink, P., Relvas, J. B., & Maciel, P. (2015). Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells. Human Molecular Genetics, 24(1), 100–117. https://doi.org/10.1093/hmg/ddu422

Silva-Fernandes, A.*, Duarte-Silva, S.*, Neves-Carvalho, A., Amorim, M., Soares-Cunha, C., Oliveira, P., Thirstrup, K., Teixeira-Castro, A., & Maciel, P. (2014). Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease. Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics, 11(2), 433–449. https://doi.org/10.1007/s13311-013-0255-9

Teixeira-Castro, A., Ailion, M., Jalles, A., Brignull, H. R., Vilaça, J. L., Dias, N., Rodrigues, P., Oliveira, J. F., Neves-Carvalho, A., Morimoto, R. I., & Maciel, P. (2011). Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways. Human Molecular Genetics, 20(15), 2996–3009. https://doi.org/10.1093/hmg/ddr203