{"id":1328,"date":"2024-07-31T14:30:23","date_gmt":"2024-07-31T14:30:23","guid":{"rendered":"https:\/\/gimm.pt\/our-work\/laboratories\/laboratorio-maria-carmo-fonseca\/"},"modified":"2026-07-16T11:58:37","modified_gmt":"2026-07-16T11:58:37","slug":"laboratorio-maria-carmo-fonseca","status":"publish","type":"lab","link":"https:\/\/gimm.pt\/pt-pt\/o-nosso-trabalho\/laboratorios\/laboratorio-maria-carmo-fonseca\/","title":{"rendered":"Laborat\u00f3rio Maria Carmo-Fonseca"},"content":{"rendered":"\n<h3 class=\"wp-block-heading\">RNA e regula\u00e7\u00e3o dos genes<\/h3>\n\n\n\n<p><\/p>\n\n\n\n<p>A regula\u00e7\u00e3o dos genes \u00e9 fundamental para toda a biologia. As mol\u00e9culas de ARN, com a sua capacidade de codificar informa\u00e7\u00e3o e exercer actividades catal\u00edticas, desempenham um papel fundamental na regula\u00e7\u00e3o da express\u00e3o gen\u00e9tica.<\/p>\n\n\n\n<p>O nosso grupo tem como objetivo descobrir vias e mecanismos moleculares que implicam o RNA na sa\u00fade e na doen\u00e7a humana. Mais especificamente, estudamos o splicing do RNA e o seu papel na regula\u00e7\u00e3o da express\u00e3o gen\u00e9tica no cancro e nas doen\u00e7as gen\u00e9ticas, e estamos a explorar novas aplica\u00e7\u00f5es m\u00e9dicas para o RNA.<\/p>\n\n\n\n<h5 class=\"wp-block-heading\"><strong>Divulga\u00e7\u00e3o da ci\u00eancia:<\/strong><\/h5>\n\n\n\n<ul>\n<li>Os picos e vales do transcriptoma nascente em embri\u00f5es de <em>Drosophila<\/em> por Rosina Savisaar &#8211; <a href=\"https:\/\/imm.medicina.ulisboa.pt\/news\/the-peaks-and-valleys-of-the-nascent-transcriptome-in-drosophila-embryos\/#intro\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>V\u00ea aqui<\/strong><\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div style=\"position: relative;\" id=\"\" class=\"alignfull\">\n\n\t\n\t\n\t<div style=\"background-color: unset;\" class=\"wrapper_section  \">\n\n\t\t<section >\n\t\t\t<div class=\"container\">\n\n\n\t\t\t\t\t\t\t\t<div class=\"acf-innerblocks-container\">\n<div id=\"\" class=\"wp-block-gimm-partner-list\">\n\t<div class=\"row\">\n\t\t<div class=\"col-lg-12 wow fadeIn\">\n\t\t\t<h3 class=\"gimm_title pt-4 mb-2 wow fadeIn\">Funders<\/h3>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"owl-carousel owl-theme owl-loaded owl-drag\">\n\t\t\t\t\t\t\t<div class=\"owl-stage-outer\">\n\t\t\t\t\t\t\t\t<div class=\"owl-stage\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"owl-item \">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"item text-center\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" style=\"max-height:150px; object-fit: contain;\" class=\"img-fluid\" src=\"https:\/\/gimm.pt\/wp-content\/uploads\/2024\/11\/2022_FCT_Logo_A_horizontal_preto.png\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\talt=\"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"owl-item \">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"item text-center\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" style=\"max-height:150px; object-fit: contain;\" class=\"img-fluid\" src=\"https:\/\/gimm.pt\/wp-content\/uploads\/2024\/12\/European_Commission_Logo.svg_.png\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\talt=\"European Commission\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"owl-item \">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"item text-center\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" style=\"max-height:150px; object-fit: contain;\" class=\"img-fluid\" src=\"https:\/\/gimm.pt\/wp-content\/uploads\/2024\/07\/gimm_partners_fundacaolc-1.jpg\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\talt=\"&#8220;la caixa&#8221; Foundation\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"owl-item \">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"item text-center\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" style=\"max-height:150px; object-fit: contain;\" class=\"img-fluid\" src=\"https:\/\/gimm.pt\/wp-content\/uploads\/2025\/04\/images-2.png\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\talt=\"Leducq Foundation\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"owl-item \">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"item text-center\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" style=\"max-height:150px; object-fit: contain;\" class=\"img-fluid\" src=\"https:\/\/gimm.pt\/wp-content\/uploads\/2025\/04\/images.png\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\talt=\"Novo Nordisk\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"owl-item \">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"item text-center\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" style=\"max-height:150px; object-fit: contain;\" class=\"img-fluid\" src=\"https:\/\/gimm.pt\/wp-content\/uploads\/2025\/04\/Gilead_Logo_standard_RGB.png\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\talt=\"Gilead Sciences\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"owl-nav disabled\"><button type=\"button\" role=\"presentation\" class=\"owl-prev\"><span aria-label=\"Previous\">\u2039<\/span><\/button><button type=\"button\" role=\"presentation\"\n\t\t\t\t\t\t\t\t\tclass=\"owl-next\"><span aria-label=\"Next\">\u203a<\/span><\/button><\/div>\n\t\t\t\t\t\t\t<div class=\"owl-dots disabled\"><button role=\"button\" class=\"owl-dot active\"><span><\/span><\/button><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/section>\n\t<\/div>\n\n<\/div>\n\n<div style=\"position: relative;\" id=\"\" class=\"alignfull\">\n\n\t\n\t\n\t<div style=\"background-color: unset;\" class=\"wrapper_section divider  \">\n\n\t\t<section >\n\t\t\t<div class=\"container\">\n\n\n\t\t\t\t\t\t\t\t<div class=\"acf-innerblocks-container\">\n<div id=\"\" class=\"wp-block-gimm-accordion\">\n\n\t<div class=\"accordion\" id=\"accordion\">\n\t\t\t\t\t\t<div class=\"accordion-item\">\n\t\t\t\t\t<h2 class=\"accordion-header\" id=\"header-areas-de-investigacao\">\n\t\t\t\t\t\t<button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\"\n\t\t\t\t\t\t\tdata-bs-target=\"#areas-de-investigacao\"\n\t\t\t\t\t\t\taria-expanded=\"false\" aria-controls=\"areas-de-investigacao\">\n\t\t\t\t\t\t\t<h3>\u00c1reas de Investiga\u00e7\u00e3o<\/h3>\n\t\t\t\t\t\t<\/button>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"areas-de-investigacao\" class=\"accordion-collapse collapse\"\n\t\t\t\t\t\tdata-bs-parent=\"#accordion\">\n\t\t\t\t\t\t<div class=\"accordion-body\">\n\t\t\t\t\t\t\t<h2>Como \u00e9 modulada a express\u00e3o g\u00e9nica pelas intera\u00e7\u00f5es entre transcri\u00e7\u00e3o e processamento de RNA?<\/h2>\n<p style=\"font-weight: 400\">Um conceito cada vez mais relevante sugere que a coordena\u00e7\u00e3o entre a transcri\u00e7\u00e3o e o processamento de RNA permite o ajuste fino dos resultados da express\u00e3o g\u00e9nica. Ao longo dos anos, importantes avan\u00e7os na compreens\u00e3o dos eventos acoplados de express\u00e3o g\u00e9nica emergiram de novas tecnologias. Em colabora\u00e7\u00e3o com o laborat\u00f3rio Proudfoot na Universidade de Oxford, o nosso grupo foi pioneiro no desenvolvimento de metodologias para o isolamento e an\u00e1lise de RNAs recentemente transcritos associados \u00e0 RNA polimerase II. Poucos laborat\u00f3rios no mundo trabalham com RNA nascente, uma vez que corresponde a uma fra\u00e7\u00e3o muito pequena do RNA celular total e apresenta, por isso, um desafio de purifica\u00e7\u00e3o. Consequentemente, o nosso laborat\u00f3rio encontra-se numa posi\u00e7\u00e3o \u00fanica para elucidar a rede de intera\u00e7\u00f5es envolvidas nas fases iniciais da express\u00e3o g\u00e9nica. A nossa an\u00e1lise pr\u00e9via de RNAs nascentes intactos atrav\u00e9s de sequenciamento de leitura longa demonstrou que, embora muitos transcritos sejam imediatamente processados por splicing, uma fra\u00e7\u00e3o significativa de pr\u00e9-mRNAs nascentes permanecia sem splicing e n\u00e3o era clivada no local poliadenila\u00e7\u00e3o (PMID: 33735606). O que acontece a estes transcritos nascentes sem splicing e sem clivagem? Acabam por sofrer splicing, poliadenila\u00e7\u00e3o e exporta\u00e7\u00e3o para o citoplasma, ou representam produtos sem sa\u00edda destinados \u00e0 degrada\u00e7\u00e3o no n\u00facleo? Por que raz\u00e3o alguns pr\u00e9-mRNAs s\u00e3o rapidamente processados por splicing enquanto outros permanecem sem processamento? O splicing diferido \u00e9 funcional? Pretendemos responder a estas quest\u00f5es rastreando no espa\u00e7o e no tempo os pr\u00e9-mRNAs recentemente sintetizados e as suas intera\u00e7\u00f5es com a maquinaria de transcri\u00e7\u00e3o.<\/p>\n<p>&nbsp;<\/p>\n<h2>Como \u00e9 que muta\u00e7\u00f5es que perturbam o splicing dos transcritos BRCA levam ao cancro heredit\u00e1rio?<\/h2>\n<p style=\"font-weight: 400\">O cancro da mama \u00e9 o cancro mais comum nas mulheres, e at\u00e9 10% das doentes com cancro da mama t\u00eam predisposi\u00e7\u00e3o gen\u00e9tica. A s\u00edndrome heredit\u00e1ria de cancro da mama e dos ov\u00e1rios (HBOC) \u00e9 uma doen\u00e7a com um enorme impacto nas fam\u00edlias afetadas, uma vez que os cancros se desenvolvem frequentemente em mulheres em idade f\u00e9rtil. Temos a ambi\u00e7\u00e3o de contribuir para a preven\u00e7\u00e3o da HBOC, possibilitando a compreens\u00e3o de como as muta\u00e7\u00f5es germinativas que perturbam o splicing dos transcritos BRCA1 e BRCA2 interferem com a homeostasia celular favorecendo a oncog\u00e9nese. Um amplo espetro de muta\u00e7\u00f5es delet\u00e9rias em BRCA1 e BRCA2 foi identificado, a grande maioria das quais resulta em perda de fun\u00e7\u00e3o proteica. Estamos a focar-nos na muta\u00e7\u00e3o fundadora do BRCA2 (c.156_157insAlu), presente em aproximadamente 30% de todas as fam\u00edlias portuguesas com HBOC, representando 55% de todos os portadores de muta\u00e7\u00f5es germinativas em BRCA2 em Portugal. A muta\u00e7\u00e3o consiste numa inser\u00e7\u00e3o Alu que leva \u00e0 exclus\u00e3o total em fase do ex\u00e3o 3. Embora se assuma geralmente que esta muta\u00e7\u00e3o conduz \u00e0 express\u00e3o de uma prote\u00edna BRCA2 mais curta, desprovida dos amino\u00e1cidos codificados pelo ex\u00e3o 3, muito pouco \u00e9 conhecido sobre as vias moleculares alteradas nas c\u00e9lulas portadoras desta muta\u00e7\u00e3o. Dado que a prote\u00edna BRCA2 \u00e9 fundamental para a prote\u00e7\u00e3o das cadeias nascentes em forquilhas de replica\u00e7\u00e3o bloqueadas e para a repara\u00e7\u00e3o de roturas de cadeia dupla do DNA por recombina\u00e7\u00e3o hom\u00f3loga, e que os estrog\u00e9nios estimulam tanto a transcri\u00e7\u00e3o como a prolifera\u00e7\u00e3o celular, colocamos a hip\u00f3tese de que, em c\u00e9lulas estaminais\/progenitoras epiteliais portadoras de muta\u00e7\u00f5es com perda de fun\u00e7\u00e3o no BRCA2, os estrog\u00e9nios aumentar\u00e3o o stress replicativo acoplado \u00e0 transcri\u00e7\u00e3o, afetando o destino das c\u00e9lulas estaminais.<\/p>\n<p>&nbsp;<\/p>\n<h2>O conhecimento fundamental dos mecanismos de splicing pode ser traduzido em terapias melhoradas de modula\u00e7\u00e3o do splicing?<\/h2>\n<p style=\"font-weight: 400\">Terapias emergentes baseadas em RNA ou mol\u00e9culas dirigidas ao RNA est\u00e3o a ser rapidamente desenvolvidas. As terapias de RNA t\u00eam o potencial de melhorar a vida de muitas pessoas afetadas por doen\u00e7as dif\u00edceis de tratar, atuando seletivamente em componentes celulares at\u00e9 agora considerados &#8220;indruggable&#8221;. Nomeadamente, o f\u00e1rmaco modificador de splicing Nusinersen teve um impacto transformador no tratamento de beb\u00e9s com atrofia muscular espinhal (PMID: 30221755).<\/p>\n<p style=\"font-weight: 400\">O nosso objetivo \u00e9 aproveitar o potencial das terapias de RNA para doen\u00e7as card\u00edacas. Com base em evid\u00eancias recentes que sugerem que o splicing de RNA desempenha um papel importante na patog\u00e9nese da cardiomiopatia hipertr\u00f3fica familiar (CMH) \u2014 a doen\u00e7a card\u00edaca heredit\u00e1ria mais comum e uma das principais causas de morte card\u00edaca s\u00fabita \u2014, estamos a investigar o impacto das muta\u00e7\u00f5es associadas \u00e0 CMH no splicing de RNA, utilizando como sistema modelo cardiomi\u00f3citos diferenciados in vitro a partir de iPSCs derivados de doentes (iPSC-CMs). Estamos particularmente interessados em muta\u00e7\u00f5es localizadas em intr\u00f5es, que podem interferir com o splicing mas s\u00e3o frequentemente desconsideradas no diagn\u00f3stico gen\u00e9tico m\u00e9dico convencional (PMID: 28497172). O nosso laborat\u00f3rio gerou uma cole\u00e7\u00e3o de iPSCs com muta\u00e7\u00f5es que afetam o splicing de genes associados \u00e0 CMH por mecanismos distintos. Utilizamos cardiomi\u00f3citos diferenciados a partir destas iPSCs como modelos celulares para desenvolver abordagens de corre\u00e7\u00e3o do splicing. Nomeadamente, estamos a conceber oligonucle\u00f3tidos antisense (ASOs) para inativar s\u00edtios de splicing cr\u00edpticos criados pelas muta\u00e7\u00f5es, e estamos a colaborar com bioqu\u00edmicos da Universidade de Copenhaga para explorar estrat\u00e9gias de entrega eficaz de ASOs nos cardiomi\u00f3citos. Adicionalmente, estamos a explorar a edi\u00e7\u00e3o de RNA mediada por Cas13 para a corre\u00e7\u00e3o do splicing em c\u00e9lulas mutantes. Colocamos ainda a hip\u00f3tese de que, ao elucidar a organiza\u00e7\u00e3o espacial e temporal do splicing de RNA no n\u00facleo, poderemos ser pioneiros no desenvolvimento de estrat\u00e9gias inovadoras para desenvolver terapias de modula\u00e7\u00e3o do splicing com impacto cl\u00ednico.<\/p>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"accordion-item\">\n\t\t\t\t\t<h2 class=\"accordion-header\" id=\"header-projetos\">\n\t\t\t\t\t\t<button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\"\n\t\t\t\t\t\t\tdata-bs-target=\"#projetos\"\n\t\t\t\t\t\t\taria-expanded=\"false\" aria-controls=\"projetos\">\n\t\t\t\t\t\t\t<h3>Projetos<\/h3>\n\t\t\t\t\t\t<\/button>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"projetos\" class=\"accordion-collapse collapse\"\n\t\t\t\t\t\tdata-bs-parent=\"#accordion\">\n\t\t\t\t\t\t<div class=\"accordion-body\">\n\t\t\t\t\t\t\t<p style=\"font-weight: 400\">The 4D organization of pre-mRNA splicing.<\/p>\n<p style=\"font-weight: 400\">Cardiac Splicing as a Therapeutic Target.<\/p>\n<p style=\"font-weight: 400\">Impact of the Portuguese <em>BRCA2<\/em> founder mutation on transcription and tissue stem cell identity.<\/p>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"accordion-item\">\n\t\t\t\t\t<h2 class=\"accordion-header\" id=\"header-publicacoes-selecionadas\">\n\t\t\t\t\t\t<button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\"\n\t\t\t\t\t\t\tdata-bs-target=\"#publicacoes-selecionadas\"\n\t\t\t\t\t\t\taria-expanded=\"false\" aria-controls=\"publicacoes-selecionadas\">\n\t\t\t\t\t\t\t<h3>Publica\u00e7\u00f5es Selecionadas<\/h3>\n\t\t\t\t\t\t<\/button>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"publicacoes-selecionadas\" class=\"accordion-collapse collapse\"\n\t\t\t\t\t\tdata-bs-parent=\"#accordion\">\n\t\t\t\t\t\t<div class=\"accordion-body\">\n\t\t\t\t\t\t\t<p class=\"x_elementToProof\" data-olk-copy-source=\"MessageBody\">Sousa-Lu\u00eds R., Carmo-Fonseca M. Tools and tactics for studying alternative splicing.\u00a0<i>Nat Rev Genet<\/i>. 2026. doi: 10.1038\/s41576-026-00952-4.<\/p>\n<p class=\"x_elementToProof\" data-olk-copy-source=\"MessageBody\">Gomes-Silva B, Furtado M, Ribeiro M, Martins S, Carvalho T, Ventura-Gomes A, Maatz H, Parakkat P, Crocini C, Gotthardt M, Savisaar R, Carmo-Fonseca M. Alternative splicing dynamics during human cardiac development in vivo and in vitro.\u00a0<i>Stem Cell Reports<\/i>\u00a02026; 21:102757.<\/p>\n<p class=\"x_elementToProof\">Lima BA, Pais AC, Dupont J, Dias P, Cust\u00f3dio N, Sousa AB, Carmo-Fonseca M, Carvalho C. Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.\u00a0<i>Life Sci Alliance<\/i>. 2024;8(3):e202402845.<\/p>\n<p class=\"x_elementToProof\">Barbosa P, Savisaar R, Carmo-Fonseca M, Fonseca A. Computational prediction of human deep intronic variation.\u00a0<i>GigaScience<\/i>. 2023;12:giad085.<\/p>\n<p class=\"x_elementToProof\">Sousa-Luis R, Dujardin G, Zukher I, Kimura H, Carmo-Fonseca M, Proudfoot NJ, Nojima T. POINT Technology illuminates the processing of polymerase-associated intact nascent transcripts.\u00a0<i>Mol Cell<\/i>. 2021;81(9):1935\u20131950.<\/p>\n<p class=\"x_elementToProof\">Prud\u00eancio P, Savisaar R, Rebelo K, Martinho RG, Carmo-Fonseca M. Transcription and splicing dynamics during early Drosophila development.\u00a0<i>RNA<\/i>. 2021;28:1\u201323.<\/p>\n<p class=\"x_elementToProof\">Nojima T, Rebelo K, Gomes T, Grosso AR, Proudfoot NJ, Carmo-Fonseca M. RNA Polymerase II phosphorylated on CTD Serine 5 interacts with the spliceosome during co-transcriptional splicing.\u00a0<i>Mol Cell<\/i>. 2018;72(2):369\u2013379.<\/p>\n<p class=\"x_elementToProof\">Bernardes de Jesus B, Matinho SP, Barros S, Sousa-Franco A, Alves-Vale C, Carvalho T, Carmo-Fonseca M. Silencing of the lncRNA Zeb2-NAT facilitates reprogramming of aged fibroblasts and safeguards stem cell pluripotency.\u00a0<i>Nat Commun<\/i>. 2018;9(1):94.<\/p>\n<p class=\"x_elementToProof\">Vaz-Drago R, Cust\u00f3dio N, Carmo-Fonseca M. Deep intronic mutations and human disease.\u00a0<i>Hum Genet<\/i>. 2017;136:1093\u20131111.<\/p>\n<p class=\"x_elementToProof\">Nojima T, Gomes T, Grosso AR, Kimura H, Dye MJ, Dhir S, Carmo-Fonseca M, Proudfoot N. Mammalian NET-seq reveals genome-wide nascent transcription coupled to RNA processing.\u00a0<i>Cell<\/i>. 2015;161(3):526\u2013540.<\/p>\n<p class=\"x_elementToProof\">A complete list of publications can be found <a href=\"https:\/\/scholar.google.com\/citations?user=KbjLqH0AAAAJ&amp;hl=en\">here<\/a>.<\/p>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"accordion-item\">\n\t\t\t\t\t<h2 class=\"accordion-header\" id=\"header-premios\">\n\t\t\t\t\t\t<button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\"\n\t\t\t\t\t\t\tdata-bs-target=\"#premios\"\n\t\t\t\t\t\t\taria-expanded=\"false\" aria-controls=\"premios\">\n\t\t\t\t\t\t\t<h3>Pr\u00e9mios<\/h3>\n\t\t\t\t\t\t<\/button>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"premios\" class=\"accordion-collapse collapse\"\n\t\t\t\t\t\tdata-bs-parent=\"#accordion\">\n\t\t\t\t\t\t<div class=\"accordion-body\">\n\t\t\t\t\t\t\t<p><strong>2023:<\/strong> Pr\u00e9mio Universidade de Lisboa<\/p>\n<p><strong>2010:<\/strong> Pr\u00e9mio Pessoa<\/p>\n<p><strong>2007:<\/strong> Gulbenkian Science Award (Funda\u00e7\u00e3o Calouste Gulbenkian, Portugal)<\/p>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"accordion-item\">\n\t\t\t\t\t<h2 class=\"accordion-header\" id=\"header-links-uteis\">\n\t\t\t\t\t\t<button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\"\n\t\t\t\t\t\t\tdata-bs-target=\"#links-uteis\"\n\t\t\t\t\t\t\taria-expanded=\"false\" aria-controls=\"links-uteis\">\n\t\t\t\t\t\t\t<h3>Links \u00dateis<\/h3>\n\t\t\t\t\t\t<\/button>\n\t\t\t\t\t<\/h2>\n\t\t\t\t\t<div id=\"links-uteis\" class=\"accordion-collapse collapse\"\n\t\t\t\t\t\tdata-bs-parent=\"#accordion\">\n\t\t\t\t\t\t<div class=\"accordion-body\">\n\t\t\t\t\t\t\t<p><span style=\"text-decoration: underline\">ORCID:<\/span> https:\/\/orcid.org\/0000-0002-3402-7143<\/p>\n<p><span style=\"text-decoration: underline\">Google Scholar:<\/span> https:\/\/scholar.google.com\/citations?user=KbjLqH0AAAAJ&amp;hl=en<\/p>\n<p>&nbsp;<\/p>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\n<\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/section>\n\t<\/div>\n\n<\/div>","protected":false},"featured_media":0,"template":"","acf":{"header_image":false,"ongoing_projects":"","selected_publications":"","useful_links":"","awards":"","funding":"","sponsorship":"","extra_information":false,"location":"Lisboa","subtitle":"RNA e regula\u00e7\u00e3o dos genes","team_leader":[{"ID":8329,"post_author":"1004","post_date":"2025-05-27 13:42:53","post_date_gmt":"2025-05-27 13:42:53","post_content":"","post_title":"Maria Carmo-Fonseca","post_excerpt":"","post_status":"publish","comment_status":"closed","ping_status":"closed","post_password":"","post_name":"maria-do-carmo-salazar-velez-roque-da-fonseca","to_ping":"","pinged":"","post_modified":"2026-03-13 10:00:39","post_modified_gmt":"2026-03-13 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Cust\u00f3dio","post_excerpt":"","post_status":"publish","comment_status":"closed","ping_status":"closed","post_password":"","post_name":"noelia-custodio","to_ping":"","pinged":"","post_modified":"2026-04-17 10:33:24","post_modified_gmt":"2026-04-17 10:33:24","post_content_filtered":"","post_parent":0,"guid":"https:\/\/gimm.pt\/people\/noelia-custodio\/","menu_order":0,"post_type":"people","post_mime_type":"","comment_count":"0","filter":"raw"},{"ID":12109,"post_author":"1004","post_date":"2026-07-16 11:52:53","post_date_gmt":"2026-07-16 11:52:53","post_content":"","post_title":"Valentina Gilmozzi","post_excerpt":"","post_status":"publish","comment_status":"closed","ping_status":"closed","post_password":"","post_name":"valentina-gilmozzi","to_ping":"","pinged":"","post_modified":"2026-07-16 11:53:36","post_modified_gmt":"2026-07-16 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