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Mariana Santos is a junior researcher at IBMC/i3S, supported by a six-year contract from FCT. Her current research covers the genetics and pathophysiology of hereditary cerebellar ataxias and spastic paraplegias. Mariana has a BSc in Pathologic Anatomy, an MSc in Molecular and Cellular Biology, and a PhD in Biomedical Sciences. FCT provided support for her PhD at the University of Aveiro, which focused on the characterization of the cellular and molecular mechanisms underlying DYT1 dystonia. In 2015, she joined the UnIGENe group at IBMC/i3S as a post-doctoral fellow under a cooperative Portugal/France project (supported by FCT and ANR). In 2017, she was awarded a post-doctoral fellowship from FCT to work at IBMC/i3S and the UK Dementia Research Institute, UCL. Her work focused on identifying new causal genes and variants in hereditary cerebellar ataxias and dissecting their functions using cellular models. Mariana has actively contributed to numerous projects as a team member and has written grant proposals. She was the principal investigator of an Ataxia UK grant that uncovered new molecular mechanisms underlying spinocerebellar ataxia type 11 (SCA11) using CRISPR-Cas9 cellular models. She is now leading a project on hereditary spastic paraplegias, under the program PESSOA 2023-2024 to promote collaboration with researchers at the Bordeaux Neurocampus. Mariana has published 24 papers in peer-reviewed journals, of which she is the first author in nine, the senior author in two, and the corresponding author in four. She has also published 17 abstracts in conference proceedings. Throughout her career, she has supervised or collaborated in the supervision of students and research fellows. Currently, she is the co-supervisor of two PhD students. Additionally, she had taught practical classes and organized scientific meetings and dissemination activities; regularly gives seminars; participates as a jury for MSc and PhD theses and reviews papers for several journals.
Identificação

Identificação pessoal

Nome completo
Mariana Santos Moreda Graça

Nomes de citação

  • Santos, Mariana

Identificadores de autor

Ciência ID
701A-EB83-4699
ORCID iD
0000-0002-2343-2215
Formação
Grau Classificação
2010 - 2014/05/30
Concluído
Doutoramento em Ciências Biomédicas (Doutoramento)
Universidade de Aveiro, Portugal
"Characterization of novel LAP1 complexes and their relevance in DYT1 dystonia " (TESE/DISSERTAÇÃO)
N/A
2008 - 2009/12/16
Concluído
Mestrado em Biologia Molecular e Celular (Mestrado)
Universidade de Aveiro, Portugal
"Validation of LAP1B as a Novel Protein Phosphatase 1 Regulator" (TESE/DISSERTAÇÃO)
17 valores
2003 - 2007/07/21
Concluído
Anatomia Patológica Citológica e Tanatológica (Licenciatura)
Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
"Avaliação da expressão dos genes que codificam a glutamina sintetase citoplasmática em "Medicago truncatula"" (TESE/DISSERTAÇÃO)
15 valores
Projetos

Bolsa

Designação Financiadores
2019/01/01 - Atual Unrevealing new genes and pathways in cerebellar ataxia by next generation sequencing and functional characterization
DL 57/2016
Investigador
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Em curso
2017/07/01 - 2018/12/31 Unraveling new genes and pathways in cerebellar ataxia by next generation sequencing and functional characterization
SFRH/BPD/116046/2016
Bolseiro de Pós-Doutoramento
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2010/01/01 - 2013/12/30 Characterization of novel LAP1 complexes and their relevance in DYT1 dystonia
SFRH / BD / 65353 / 2009
Bolseiro de Doutoramento
Universidade de Aveiro Departamento de Biologia, Portugal
Fundação para a Ciência e a Tecnologia
Concluído

Projeto

Designação Financiadores
2019/07/01 - 2021/04/01 Modelling SCA11 in cultured cells using CRISPR/Cas9
ZGRACA
Investigador responsável
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Ataxia UK
Concluído
2016 - 2019 Porto Neurosciences and Neurologic Disease Research Initiative at i3S
NORTE-01-0145-FEDER-000008
Investigador
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluído
2015/02/01 - 2017/06/30 Identification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivo
FCT-ANR/BEX-GMG/0008/2013
Bolseiro de Pós-Doutoramento
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
Produções

Publicações

Artigo em revista
  1. Felício, Daniela; Dias, Andreia; Martins, Sandra; Carvalho, Estefânia; Lopes, Alexandra M.; Pinto, Nádia; Lemos, Carolina; Santos, Mariana; Alves-Ferreira, Miguel. "Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility". The Journal of Headache and Pain 24 1 (2023): http://dx.doi.org/10.1186/s10194-023-01615-z.
    Publicado • 10.1186/s10194-023-01615-z
  2. Felício, Daniela; Alves-Ferreira, Miguel; Santos, Mariana; Quintas, Marlene; Lopes, Alexandra M; Lemos, Carolina; Pinto, Nádia; Martins, Sandra. "Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease". Briefings in Functional Genomics (2023): http://dx.doi.org/10.1093/bfgp/elad020.
    Publicado • 10.1093/bfgp/elad020
  3. Dias, Andreia; Santos, Mariana; Carvalho, Estefânia; Felício, Daniela; Silva, Paulo; Alves, Ivânia; Pinho, Teresa; et al. "Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine". Clinical Genetics 104 4 (2023): 479-485. http://dx.doi.org/10.1111/cge.14379.
    Acesso aberto • Publicado • 10.1111/cge.14379
  4. Santos, Mariana; Massano, João; Lopes, Alexandra Manuel; Brandão, Ana Filipa; Freixo, João Parente; Oliveira, Jorge. "Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30". Neurogenetics (2023): http://dx.doi.org/10.1007/s10048-023-00720-0.
    Publicado • 10.1007/s10048-023-00720-0
  5. Felício, Daniela; Santos, Mariana. Autor correspondente: Santos, Mariana. "Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms". The Cerebellum (2023): http://dx.doi.org/10.1007/s12311-023-01540-6.
    Acesso aberto • Publicado • 10.1007/s12311-023-01540-6
  6. Foddis, Marco; Blumenau, Sonja; Holtgrewe, Manuel; Paquette, Kimberly; Westra, Kaitlyn; Alonso, Isabel; Macario, Maria do Carmo; et al. "TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients". Neurobiology of Aging 123 (2023): 208-215. http://dx.doi.org/10.1016/j.neurobiolaging.2022.11.013.
    10.1016/j.neurobiolaging.2022.11.013
  7. da Costa, Sophia Caldas Gonzaga; de Rezende-Filho, Flávio c; de Freitas, Júlian Leticia; de Assis Pereira Matos, Paula Camila Alves; Della-Ripa, Bruno; França, Marcondes Cavalcante; Marques, Wilson; et al. "Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia". Movement Disorders 37 6 (2022): 1309-1316. http://dx.doi.org/10.1002/mds.29015.
    10.1002/mds.29015
  8. Santos, Mariana; Damásio, Joana; Carmona, Susana; Neto, João Luís; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; et al. Autor correspondente: Santos, Mariana. "Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia". Cells 11 6 (2022): 981. http://dx.doi.org/10.3390/cells11060981.
    10.3390/cells11060981
  9. Damásio, Joana; Santos, Mariana; Samões, Raquel; Araújo, Maria; Macedo, Mafalda; Sardoeira, Ana; Cavaco, Sara; et al. "Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype". Clinical Genetics (2021): http://dx.doi.org/10.1111/cge.14055.
    Publicado • 10.1111/cge.14055
  10. Cátia D. Pereira; Filipa Martins; Mariana Santos; Thorsten Müeller; Odete A. B. da Cruz e Silva; Sandra Rebelo. "Nuclear Accumulation of LAP1:TRF2 Complex during DNA Damage Response Uncovers a Novel Role for LAP1". Cells 9 8 (2020): 1804-1804. https://doi.org/10.3390/cells9081804.
    10.3390/cells9081804
  11. Santos, Mariana; Damásio, Joana; Kun-Rodrigues, Célia; Barbot, Clara; Sequeiros, Jorge; Brás, José; Alonso, Isabel; Guerreiro, Rita. "Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype". Journal of Clinical Medicine 9 4 (2020): 1212. http://dx.doi.org/10.3390/jcm9041212.
    Publicado • 10.3390/jcm9041212
  12. Joana Teixeira; Sofia Dória; Santos, Mariana; Isabel Alonso; Miguel Leão. "Novel SLC1A4 Variants In Two Portuguese Families And Literature Review". Journal of Genetics & Genomic Sciences 7 017 (2020): https://www.heraldopenaccess.us/article_pdf/37/progressive-microcephaly-spasticity-and-development-delay-novel-slc1a4-variants-in-two-portuguese-families-and-literature-review.pdf.
    Publicado
  13. Pedroso, José Luiz; Vale, Thiago Cardoso; da Costa, Sophia Caldas Gonzaga; Santos, Mariana; Alonso, Isabel; Barsottini, Orlando Graziani Povoas. "Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome". Tremor and Other Hyperkinetic Movements 10 1 (2020): http://dx.doi.org/10.5334/tohm.557.
    Publicado • 10.5334/tohm.557
  14. Santos, Mariana; Morais, Sara; Pereira, Conceição; Sequeiros, Jorge; Alonso, Isabel. Autor correspondente: Santos, Mariana. "Parkin truncating variants result in a loss-of-function phenotype". Scientific Reports 9 1 (2019): http://dx.doi.org/10.1038/s41598-019-52534-6.
    10.1038/s41598-019-52534-6
  15. Jonsson, L.; Magnusson, T.E.; Thordarson, A.; Jonsson, T.; Geller, F.; Feenstra, B.; Melbye, M.; et al. "Rare and Common Variants Conferring Risk of Tooth Agenesis". Journal of Dental Research 97 5 (2018): 515-522. http://dx.doi.org/10.1177/0022034517750109.
    10.1177/0022034517750109
  16. Tenreiro, P.; Rebelo, S.; Martins, F.; Santos, M.; Coelho, E.D.; Almeida, M.; Alves de Matos, A.P.; da Cruz e Silva, O.A.B.. "Comparison of simple sucrose and percoll based methodologies for synaptosome enrichment". Analytical Biochemistry 517 (2017): 1-8. http://www.scopus.com/inward/record.url?eid=2-s2.0-84994010362&partnerID=MN8TOARS.
    10.1016/j.ab.2016.10.015
  17. Martins, F.; Rebelo, S.; Santos, M.; Cotrim, C.Z.; da Cruz e Silva, E.F.; da Cruz e Silva, O.A.B.. "BRI2 and BRI3 are functionally distinct phosphoproteins". Cellular Signalling 28 1 (2016): 130-144. http://www.scopus.com/inward/record.url?eid=2-s2.0-84968791343&partnerID=MN8TOARS.
    10.1016/j.cellsig.2015.10.012
  18. Santos, M.; Rebelo, S.; da Cruz e Silva, E. F.; da Cruz e Silva, O. A. B.. "DYT1 dystonia-associated mutant affects cytoskeletal dynamics". Microscopy and Microanalysis 21 S6 (2015): 26-27. http://dx.doi.org/10.1017/s1431927614013804.
    10.1017/s1431927614013804
  19. Rebelo, S.; Santos, M.; Martins, F.; da Cruz e Silva, E.F.; da Cruz e Silva, O.A.B.. "Protein phosphatase 1 is a key player in nuclear events". Cellular Signalling 27 12 (2015): 2589-2598. http://www.scopus.com/inward/record.url?eid=2-s2.0-84958604927&partnerID=MN8TOARS.
    10.1016/j.cellsig.2015.08.007
  20. Santos, M.; Costa, P.; Martins, F.; da Cruz e Silva, E.F.; da Cruz e Silva, O.A.B.; Rebelo, S.. "LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression". Molecular and Cellular Biochemistry 399 1-2 (2015): 143-153. http://www.scopus.com/inward/record.url?eid=2-s2.0-84916889629&partnerID=MN8TOARS.
    10.1007/s11010-014-2241-x
  21. Santos, M.; Domingues, S.C.; Costa, P.; Muller, T.; Galozzi, S.; Marcus, K.; Da Cruz E Silva, E.F.; Da Cruz E Silva, O.A.; Rebelo, S.. "Identification of a novel human LAP1 isoform that is regulated by protein phosphorylation". PLoS ONE 9 12 (2014): http://www.scopus.com/inward/record.url?eid=2-s2.0-84914674749&partnerID=MN8TOARS.
    10.1371/journal.pone.0113732
  22. Santos, M.; Rebelo, S.; Van Kleeff, P.J.M.; Kim, C.E.; Dauer, W.T.; Fardilha, M.; da Cruz e Silva, O.A.; da Cruz e Silva, E.F.. "The Nuclear Envelope Protein, LAP1B, Is a Novel Protein Phosphatase 1 Substrate". PLoS ONE 8 10 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84885059523&partnerID=MN8TOARS.
    10.1371/journal.pone.0076788
  23. Rebelo, S.; Domingues, S.C.; Santos, M.; Fardilha, M.; Esteves, S.L.C.; Vieira, S.I.; Vintém, A.P.B.; et al. "Identification of a novel complex AßPP:Fe65:PP1 that regulates AßPP Thr668 phosphorylation levels". Journal of Alzheimer's Disease 35 4 (2013): 761-775. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878877274&partnerID=MN8TOARS.
    10.3233/JAD-130095
  24. Santos, M.; Rebelo, S.; Silva, O.A.B.D.C.E.; Silva, E.F.D.C.E.. "Immunolocalization of PPP1C isoforms in SH-SY5Y cells during the cell cycle". Microscopy and Microanalysis 18 SUPPL.5 (2012): 41-42. http://www.scopus.com/inward/record.url?eid=2-s2.0-84894668146&partnerID=MN8TOARS.
    10.1017/S143192761201286X
Pré-impressão
  1. Moura, João; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lénia; Lemos, Carolina; Barros, José; Sequeiros, Jorge; Damásio, Joana. "Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms". 2024. http://dx.doi.org/10.21203/rs.3.rs-4200296/v1.
    10.21203/rs.3.rs-4200296/v1
  2. Foddis, Marco; Blumenau, Sonja; Holtgrewe, Manuel; Paquette, Kimberly; Westra, Kaitlyn; Alonso, Isabel; Macario, Maria Carmo; et al. "TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients". 2022. http://dx.doi.org/10.21203/rs.3.rs-1702915/v1.
    10.21203/rs.3.rs-1702915/v1
Tese / Dissertação
  1. Graça, Mariana. "Characterization of novel LAP1 complexes and their relevance in DYT1 dystonia". Doutoramento, Universidade de Aveiro, 2014.
  2. Graça, Mariana. "Validation of LAP1B as a Novel Protein Phosphatase 1 Regulator, in Biology Department". Mestrado, Universidade de Aveiro, 2010.