RNA in disease

Deliverables

The organisation of the First RiboMed summer school will be reported

"""Science gallery in the street"" campaign"

The organisation of a science outreach event will bereported

International conference on RNA in disease

The organisation of an important international conference on RNA in disease will be reported

An initial set of communication material will be developed as to increase awareness of biomedical research in general, and iMM researchers in particular.

First Annual Project Meeting

The Consortium will together with the Scientific Advisory Board discuss the achievements and suggest alterations if necessary and this meeting will be reported

Widening KPI: Evolution of the publications in high impact journals in the RiboMed research field

Widening KPI: all the publications of iMM in high impact journals in the RiboMed research field published in 3 years prior to the start of RiboMed will be inserted in the GMS PP, and a 1-page statement report will be submitted.

Second Summer School

The organisation of the Second RiboMed Summer School will be reported

Publications

Silencing of the lncRNA Zeb2-NAT facilitates reprogramming of aged fibroblastos and safegards stem cell pluripotency

Author(s): Bernardes de Jesus B, Matinho SP, Barros S, Sousa-Franco A, Alves-Vale C, Carvalho T, Carmo-Fonseca M
Published in: Nature Communications, 2018, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-017-01921-6

Short(16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes

Author(s): Pires VB, Simões R, Mamchaoui K, Carvalho C, Carmo-Fonseca M.
Published in: PLOS ONE, 2017, ISSN 1932-6203
Publisher: Public Library of Science
DOI: 10.1371/journal.pone.0181065

Deep intronic mutations and human disease.

Author(s): Vaz-Drago R, Custódio N, Carmo-Fonseca M.
Published in: Human Genetics, Issue 136/9, 2017, ISSN 0340-6717
Publisher: Springer Verlag
DOI: 10.1007/s00439-017-1809-4

Reduced Lamin A/C Does Not Facilitate Cancer Cell Transendothelial Migration but Compromises Lung Metastasis.

Author(s): Francesco Roncato; Ofer Regev; Sara W. Feigelson; Sandeep Kumar Yadav; Lukasz Kaczmarczyk; Nehora Levi; Diana Drago-Garcia; Samuel Ovadia; Marina Kizner; Yoseph Addadi; João C. Sabino; Yossi Ovadya; Sérgio F. de Almeida; Ester Feldmesser; Gabi Gerlitz; Ronen Alon
Published in: Volume 13, Issue 3, 2021, ISSN 2078-2489
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers13102383

Design principles for pluripotent stem cell-derived organoid engineering

Author(s): Silva TP, Cotovio JP, Bekman E, Carmo-Fonseca M, Cabral JMS, Fernandes TG
Published in: Stem Cells International, 2019, ISSN 1687-9678
Publisher: Stem Cells International
DOI: 10.1155/2019/4508470

Pharmacological inhibition of the spliceosome subunit SF3b triggers EJC-independent NMD

Author(s): Carvalho T, Martins S, Rino J, Marinho S, Carmo-Fonseca M.
Published in: Journal of Cell Science, Issue 130/9, 2017, ISSN 0021-9533
Publisher: The Company of Biologists Ltd.
DOI: 10.1242/jcs.202200

Transcription and splicing dynamics during early Drosophila development

Author(s): Prudêncio P, Rebelo K, Savisaar R, Martinho RG, Carmo-Fonseca M
Published in: RNA, 2021, ISSN 1355-8382
Publisher: Cold Spring Harbor Laboratory Press
DOI: 10.1261/rna.078933.121

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy

Author(s): Marta Ribeiro, Marta Furtado, Sandra Martins, Teresa Carvalho, Maria Carmo-Fonseca
Published in: International Journal of Molecular Sciences, Issue 21/4, 2020, Page(s) 1329, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21041329

Epigenetic reprogramming by TET enzymes impacts co-transcriptional R-loops

Author(s): João C. Sabino, Madalena R. de Almeida, Patrícia L.Abreu, Ana M. Ferreira, Marco M Domingues, Nuno C Santos, Claus Azzalin, Ana Rita Grosso, Sérgio Fernandes de Almeida
Published in: Elife, 2022, ISSN 2050-084X
Publisher: eLife Sciences Publications
DOI: 10.7554/elife.69476

POINT technology illuminates the processing of polymerase-associated intact nascent transcripts

Author(s): Rui Sousa-Luís, Gwendal Dujardin, Inna Zukher, Hiroshi Kimura, Carika Weldon, Maria Carmo-Fonseca, Nick J. Proudfoot, Takayuki Nojima
Published in: Molecular Cell, 2021, ISSN 1097-2765
Publisher: Cell Press
DOI: 10.1016/j.molcel.2021.02.034

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy

Author(s): Mendes de Almeida R, Tavares J, Martins S, Carvalho T, Enguita FJ, Brito D, Carmo-Fonseca M, Lopes LR.
Published in: Plos One, Issue 12/8, 2017, ISSN 1932-6203
Publisher: Public Library of Science
DOI: 10.1371/journal.pone.0182946

RNA Polymerase II phosphorylated on CTD Serine 5 interacts with the spliceosome during co-transcriptional splicing

Author(s): Nojima T, Rebelo K, Gomes T, Grosso AR, Proudfoot NJ, Carmo-Fonseca M
Published in: Molecular Cell, Issue 72/2, 2018, ISSN 1097-2765
Publisher: Cell Press
DOI: 10.1016/j.molcel.2018.09.004

Distinctive patterns of transcription and RNA processing for human lincRNAs

Author(s): Schlackow M, Nojima T, Gomes T, Dhir A, Carmo-Fonseca M, Proudfoot NJ
Published in: Molecular Cell, Issue 65/1, 2017, ISSN 1097-2765
Publisher: Cell Press
DOI: 10.1016/j.molcel.2016.11.029

Live-Cell Imaging of Transcriptional Activity at DNA Double-Strand Breaks.

Author(s): Madalena R. de Almeida; Eduardo Gameiro; Sérgio F. de Almeida; Robert M. Martin
Published in: reponame:Repositório Científico de Acesso Aberto de Portugal, Issue 1, 2021, ISSN 1940-087X
Publisher: MYJoVE Corporation
DOI: 10.3791/62968

betAS: intuitive analysis and visualisation of differential alternative splicing using beta distributions (pre-print)

Author(s): Mariana Ascensao-Ferreira, Nuno Saraiva-Agostinho, Nuno L Barbosa-Morais
Published in: 2022
Publisher: biorxiv
DOI: 10.1101/2022.12.26.521935

voyAGEr: free web interface for the analysis of age-related gene expression alterations in human tissues (pre-print)

Author(s): Arthur L Schneider, Nuno Saraiva-Agostinho, Nuno L Barbosa-Morais
Published in: 2022
Publisher: Biorxiv
DOI: 10.1101/2022.12.22.521681

TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells

Author(s): Silva B, Arora R, Bione S, Azzalin CM
Published in: Nature Communications, 2021
Publisher: Nature Communications
DOI: 10.1101/2021.02.18.431840

Quantitative image analysis of single-molecule mRNA dynamics in living cells

Author(s): Rino J, de Jesus AC, Carmo-Fonseca M
Published in: Light Microscopy - Methods and Protocols, Issue 1563, 2017
Publisher: Methods in Molecular Biology
DOI: 10.1007/978-1-4939-6810-7_15

Intellectual Property Rights

METHODS OF TREATMENT OF CANCER ASSOCIATED WITH CENTROSOME AMPLIFICATION

Application/Publication number: 20 19050045
Date: 2019-12-20

TREATMENT OF ALT CANCERS

Application/Publication number: 20 20050021
Date: 2020-05-23