Marisa Alexandra Rego Da Encarnação (4819-A750-4620)

Curriculum Vitae

Marisa Alexandra Rego Da Encarnação

M Encarnação obtained her PhD in Natural Sciences (PhD program of the Research Training Group 1459 - Sorting and Interactions between Proteins of Subcellular Compartments), University of Hamburg in 2011. She was a Postdoc at Chronic Diseases Research Center and visiting Scientist at Brighmans and Womens Hospital - Harvard Medical School and Weizmann Institute of Science. She developed experties in cell biology and intracellular trafficking, mainly on lysosomes field. ME has been involved in teaching activities ; co-supervised several undergraduate and graduate students and supervised two Master students. From 2016 to 2021 developed research activities at INSA on Genomics and Funcional Studies applied to Lysosomal Storage Disorders. Since 2021, holds a position as Auxiliary Researcher at the Lysosomal Storage Diseases (LSDs) Research Group at the R&D Unit in the Human Genetics Department at INSA, where led a project on RNA-Sequencing. She hold extensive experience in other Next-generation sequencing methods, including metagenomics. M Encarnação has published 22 ISI papers.

Read full resume ↓

Identification

Personal identification

Full name: Marisa Alexandra Rego Da Encarnação

Citation names

Encarnação, Marisa

Author identifiers

Ciência ID: 4819-A750-4620
ORCID iD: 0000-0002-3726-2851

Websites

https://cecaicetaup.wixsite.com/website/inherited-metabolic-diseases-in-ani (Professional)

Knowledge fields

Natural sciences - Biological Sciences - Biochemistry
Medical and Health Sciences - Basic Medicine - Human Genetics
Natural sciences - Biological Sciences - Cell Biology

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
English	Upper intermediate (B2)	Upper intermediate (B2)	Intermediate (B1)	Upper intermediate (B2)	Upper intermediate (B2)

Education

	Degree	Classification
2011 Concluded	Research Training Group 1459 - Sorting and interactions between proteins of subcellular compartments (Doktor (PhD)) Major in Tráfico Intracelular Universitätsklinikum Hamburg-Eppendorf, Germany "Structural requirements of the gamma subunit for assembly and intracellular transport of GlcNAc-1-phosphotransferase" (THESIS/DISSERTATION)	Very Good
2007 Concluded	Master in Advanced Biomolecular Methods (Mestrado) Universidade de Aveiro, Portugal "Mucolipidosis type II and III: mutational spectrum and genotype-phenotype relationship " (THESIS/DISSERTATION)	Approved (maximum classification possible)
2004 Concluded	Biochemistry graduation- specialization Applied Biochemistry (Licenciatura) Universidade do Porto Faculdade de Ciências, Portugal "Characterization of the mtND1 gene in Portuguese patients with Leber Hereditary Optic Neuropathy" (THESIS/DISSERTATION)	13

Affiliation

Science

	Category Host institution	Employer
2021/03/15 - Current	Auxiliary Researcher (Research)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

2018/11/01 - 2018/12/23	Visiting Researcher (Research)	Weizmann Institute of Science, Israel

2012/06/25 - 2012/12/02	Visiting Researcher (Research)	Harvard Medical School, United States

Teaching in Higher Education

	Category Host institution	Employer
2019/11 - 2019/12	Visiting Teacher (Polytechnic Teacher)	Cooperativa de Ensino Superior Politécnico e Universitário, Portugal

Others

	Category Host institution	Employer
2020/04/20 - 2022/06	Participation in SARS-COV-2 Molecular testing	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

2018/01/01 - 2021/02	Postdoc	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

2016/10/02 - 2018/02/15	Postdoctoral Fellow (integrated in the project NORTE2020 - DESVENDAR)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

2017 - 2018	Postdoctoral Fellow	Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal

2015/10/01 - 2016/07/01	Postdoctoral Fellow (FCT fellowship with the reference SFRH / BPD / 87085 / 2012)	Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal

2015 - 2015	Postdoc	iNOVA4Health, Portugal

2013/01/01 - 2014/09/30	Postdoctoral Fellow (FCT fellowship with the reference SFRH / BPD / 87085 / 2012)	Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

2012 - 2013	Postdoctoral Fellow (integrated on the project HMS-Portugal ICT 2010)	Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

2012 - 2012	Postdoctoral Fellow (integrated on the project HMS-Portugal ICT 2010)	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

2008/05/01 - 2011/07/22	PhD student	Universitätsklinikum Hamburg-Eppendorf, Germany

2004/11/01 - 2007/12/31	Senior Technician integrated on the team responsible for the screening and follow-up of metabolic diseases, namely aminoacidopathies, urea cycle disorders, organic aciduries and mitochondrial diseases	Centro de Genética Médica Doutor Jacinto Magalhães, Portugal

Projects

Grant

	Designation	Funders
2016/02/11 - 2018/09/30	DESVENDAR – DEScobrir, VENcer as Doenças rARas” NORTE2020/ DESVENDAR/DGH/jn2016 Post-doc Fellow Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Concluded
2012/01/01 - 2016	New Approaches to fight tuberculosis HMSP-ICT/0024/2010 Post-doc Fellow	Fundação para a Ciência e a Tecnologia Concluded
2013/01/01 - 2015/12/31	DECIPHERING THE MOLECULAR MECHANISMS INVOLVED PLASMA MEMBRANE REPAIR IN MYCOBACTERIUM TUBERCULOSIS-INFECTED MACROPHAGES SFRH/BPD/87085/2012 Post-doc Fellow	Fundação para a Ciência e a Tecnologia Concluded
2008/03 - 2011/07	Subunit interactions of the Golgi-resident GlcNac-1-phosphotransferase complex Grant GRK1459 PhD Student Fellow Universitätsklinikum Hamburg-Eppendorf, Germany	Deutsche Forschungsgemeinschaft Concluded

Contract

	Designation	Funders
2021/01/01 - 2025/12/31	Associate Laboratory for Animal and Veterinary Sciences LA/P/0059/2020 10.54499/LA/P/0059/2020 Universidade de Lisboa Centro de Investigação Interdisciplinar em Sanidade Animal, Portugal Universidade de Lisboa Faculdade de Medicina Veterinária, Portugal Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal Universidade de Trás-os-Montes e Alto Douro Centro de Ciência Animal e Veterinária, Portugal Universidade de Trás-os-Montes e Alto Douro, Portugal Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2023/03/01 - 2024/08/31	Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents 2022.04667.PTDC Researcher	Fundação para a Ciência e a Tecnologia Ongoing
2023/03/01 - 2024/08/31	New models for the most frequent Mucolipidosis II-causing mutation using iPSCs and zebrafish: a crucial step towards the development of new therapies 2022.03836.PTDC Researcher	Fundação para a Ciência e a Tecnologia Ongoing
2023/05 - 2024/05	Addressing a challenging enzyme in vitro: proof of principle on the therapeutic potential of an antisense oligonucleotide approach for ML II AL4A-PROJ-LT3.5 Researcher	Ongoing
2022/01/01 - 2023/12/31	Neurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder EXPL/BTM-SAL/0659/2021 10.54499/EXPL/BTM-SAL/0659/2021 Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2022/01/02 - 2023/06/30	RNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases EXPL/BTM-TEC/1477/2021 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2018/10/20 - 2022/08/31	LysoMod, Genetic and Small Molecule Modifiers of Lysosomal Function H2020-MSCA-RISE-2016 Researcher Instituto de Medicina Molecular João Lobo Antunes, Portugal	Horizon 2020 Ongoing
2020/04/21 - 2020/07/21	GLYCOVID-19 Testing existing glycan-based drugs to neutralize SARS-CoV- 2 140_596817822 Technical development	Fundação para a Ciência e a Tecnologia Ongoing
2019/01/01 - 2019/12/31	Center for the Study of Animal Science UID/Multi/00211/2019 Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2019/01/01 - 2019/12/31	iNOVA4Health - Programme in Translational Medicine (iBET, CEDOC/FCM, IPOLFG and ITQB) UID/Multi/04462/2019 Instituto de Biologia Experimental e Tecnológica, Portugal Universidade NOVA de Lisboa NOVA Medical School, Portugal Universidade NOVA de Lisboa, Portugal Universidade Nova de Lisboa Instituto de Tecnologia Química e Biológica António Xavier, Portugal Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Portugal	Fundação para a Ciência e a Tecnologia Concluded

Outputs

Publications

Conference paper	Carvalho, Sofia; Moreira, Luciana; Santos, Juliana Inês; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al. "Help Comes from Unexpected Places: How a Tiny Fairy and a TropicalFish may help us Model Mucopolysaccharidoses". 2023. Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo-Min; Cardoso, Maria Teresa; Chaves, Paulo; Gaspar, Paulo; Santos, Juliana Inês; et al. "Genomics and transcriptomics approach - diagnosis of a challenging case of Niemann-Pick type C (NP-C)". 2019. Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo-Min; Cardoso, Maria Teresa; Chaves, Paulo; Gaspar, Paulo; Santos, Juliana Inês; et al. "Transcriptomics profiling of Niemann-Pick type C patients: activation of the unfold protein response in a specific case". 2019. Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo-Min; Cardoso, Maria Teresa; Chaves, Paulo; Ribeiro, Isaura; Santos, Juliana Inês; et al. "Assessing Niemann-Pick Type C (NP-C) through a multi-omics approach genomic and transcriptomic profile of challenging cases". 2019. Coutinho, Maria Francisca; Encarnação, Marisa; Santos, Juliana Inês; Alves, Sandra. "Molecular Characterization of a Novel Mucopolysaccharidosis type VIcausing Mutation - Indirect Proof of Principle on its Pathogenicity". 2017. Coutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, Sandra. "Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous cases". 2010. Coutinho, Maria Francisca; Encarnação, Marisa; Lacerda, Lúcia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra. "Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/beta". 2010. Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Lacerda, Lúcia; Bargal, Ruth; Filocammo, Mirella; et al. "Molecular characterization of the Portuguese patients with defects in GlcNAc-phosphotransferase: a key enzyme in the M6-P dependent lysosomal trafficking". 2009. Coutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Bargal, Ruth; Filocammo, Mirella; RaasRothschild, A.; Tappino, Barbara; Alves, Sandra. "Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II". 2009.
Conference poster	Almeida, Matilde B.; Carvalho, Sofia; Santos, Juliana I.; Moreira, Luciana; Duarte, Ana J.; Gaspar, Paulo; Rocha, Hugo; et al. "From naturally-occurring stem cells to engineered iPSCs - the countless possibilities of stemness to model Rare Genetic Diseases". Paper presented in 28th Annual Meeting of the Portuguese Society of Human Genetics, 2024. Moreira, Luciana Vaz; Moutinho, Maria Eduarda; Coutinho, Maria Francisca; Duarte, Ana Joana; Gonçalves, Mariana; Matos, Liliana; Santos, Juliana Inês; et al. "Advances and challenges in generating new models for the rare genetic disease Mucolipidosis type II.". Paper presented in ESGCT/SITGEC Collaborative Congress, 2024. Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana Vaz; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnação, Marisa; et al. "Models Matter: exploring baby teeth as a source of stem cells for translational research in Mucopolysaccharidoses". Paper presented in III Meeting Al4animals, 2024. Sandiares, Ana Catarina; Gonçalves, Mariana; David, Hugo; Cardoso, Maria Teresa; Ferrão, José; Vieira, Luís; Ribeiro, Isaura; et al. "Investigating cellular targets, potential biomarkers, and disease-causing variants to understand the complexity of Niemann-Pick Type C Disorder". Paper presented in 20th International Symposium of the Portuguese Society for Metabolic Disorders. Presenting author, 2024. Encarnação, Marisa. "Exosomal microRNAs as possible biomarkers for a rare disease affecting lipids". Paper presented in 2nd Meeting of the Portuguese Network on Extracellular Vesicles, 2023. Encarnação, Marisa. "RNARARE - understanding RNA in Niemann-Pick type C disease". Paper presented in Lysosomal Diseases Gordon Research Conference, 2023. Carvalho, Sofia; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al. "The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders". Paper presented in 2ndMeeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4AnimalS), 2023. CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""The disease modelling value of baby teeth: a new way to unlock knowledge about a special group of genetic disorders"". Paper presented in Dia do Jovem Investigador INSA, 2022. CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""When folklore meets science: the 21st century baby teeth collector that is helping us SHED light over rare genetic disorders"". Paper presented in 26th Annual Meeting Sociedade Portuguesa de Genética Humana, 2022. Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. Corresponding author: Carvalho, Sofia. "Generation of mice expressing in the liver human splicing mutations: a good model to test in vivo the therapeutic efficacy of modified U1 snRNAs for Mucopolysaccharidosis type IIIC". Paper presented in 26th Annual Meeting Sociedade Portuguesa de Genética Humana, 2022. Carvalho, Sofia; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""Baby Teeth patient-derived stem cells: an innovative model to SHED light over MPS pathology"". Paper presented in ESGLD, 2022. CARVALHO, SOFIA; Santos, Juliana Inês; Moreira, L; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; et al. ""Help comes from unexpected places: how a tiny fairy and a tropical fish may help us model Mucopolysaccharidosis type III"". Paper presented in ESGLD, 2022. Moreira, L; Santos, Juliana Inês; Gonçalves, Mariana; Carvalho, Sofia; Encarnação, Marisa; Matos, Liliana; Maria Francisca Coutinho; Alves, Sandra. ""Urine Stem Cells as a potential in vitro model for Mucolipidosis type II"". Paper presented in III International Meeting of the Portuguese Society of Genetics, 2022. Moreira, L; Maria Francisca Coutinho; Carvalho, Sofia; Duarte, Ana Joana; Ribeiro, Diogo; Santos, Juliana Inês; Gonçalves, Mariana; et al. Corresponding author: Moreira, L. "Pluripotent cells and zebrafish: two complementary platforms for modelling Lysosomal Storage Disorders". Paper presented in CIISA Congress 2022, 2022. Ribeiro, Diogo; Amaral, Olga; Encarnação, Marisa; Silva, Lisbeth; Alves, Sandra. Corresponding author: Amaral, Olga. "Preliminary characterization of lysosomal-related genes in two Tay-Sachs variant B1 fibroblast cell lines". Paper presented in 25ª Reunião Anual da SPGH, 2021. Coutinho, Maria Francisca; Encarnação, Marisa; Santos, Juliana; Alves, Sandra. "Molecular Characterization of a Novel Mucopolysaccharidosis (MPS) type VI-causing Mutation ¿ Indirect Proof of Principle on its Pathogenicity.". Paper presented in 14th International Symposium SPDM, 2018. Coutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; et al.. "Development of next generation sequencing (NGS) gene panel for lysosomal storage diseases.". Paper presented in 13th International Symposium of SPDM., 2017. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, Sandra. "Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing". 2017.
Journal article	Juliana Inês Santos; Mariana Gonçalves; Matilde Barbosa Almeida; Hugo Rocha; Ana Joana Duarte; Liliana Matos; Luciana Vaz Moreira; et al. "mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis". International Journal of Molecular Sciences (2025): https://doi.org/10.3390/ijms26031273. 10.3390/ijms26031273 Hugo David; Jlenia Monfregola; Isaura Ribeiro; Maria Teresa Cardoso; Ana Catarina Assunção Sandiares; Luciana Moreira; Maria Francisca Coutinho; et al. "Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann–Pick Type C Disease". International Journal of Molecular Sciences (2024): https://www.mdpi.com/1422-0067/25/22/12186. 10.3390/ijms252212186 Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnação, Marisa; et al. "Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients". International Journal of Molecular Sciences 25 6 (2024): 3546. http://dx.doi.org/10.3390/ijms25063546. 10.3390/ijms25063546 Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves. "Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts". Genes (2023): https://doi.org/10.3390/genes14111990. 10.3390/genes14111990 Marisa Encarnação; Hugo David; Maria Francisca Coutinho; Luciana Moreira; Sandra Alves. "MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C". Biomedicines (2023): https://doi.org/10.3390/biomedicines11102615. 10.3390/biomedicines11102615 Hammerschmidt, Tatiane Grazieli; Encarnação, Marisa; Lamberty Faverzani, Jéssica; de Fátima Lopes, Franciele; Poswar de Oliveira, Fabiano; Fischinger Moura de Sousa, Carolina; Ribeiro, Isaura; et al. "Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA". Archives of Biochemistry and Biophysics 735 (2023): 109510. http://dx.doi.org/10.1016/j.abb.2023.109510. 10.1016/j.abb.2023.109510 Marisa Encarnação; Maria Francisca Coutinho; Soo Min Cho; Maria Teresa Cardoso; Isaura Ribeiro; Paulo Chaves; Juliana Inês Santos; et al. "NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient". Molecular Genetics & Genomic Medicine (2020): e1451-e1451. https://doi.org/10.1002/mgg3.1451. 10.1002/mgg3.1451 Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos; et al. "Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants". International Journal of Molecular Sciences 21 17 (2020): 6355-6355. https://doi.org/10.3390/ijms21176355. 10.3390/ijms21176355 Maria Francisca Coutinho; Marisa Encarnação; Liliana Matos; Lisbeth Silva; Diogo Ribeiro; Juliana Inês Santos; Maria João Prata; Laura Vilarinho; Sandra Alves. "Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity". Diagnostics 10 2 (2020): 58-58. https://doi.org/10.3390/diagnostics10020058. 10.3390/diagnostics10020058 Domingues, Neuza; Estronca, Luís M.B.B.; Silva, João; Encarnação, Marisa R.; Mateus, Rita; Silva, Diogo; Santarino, Inês B.; et al. "Cholesteryl hemiesters alter lysosome structure and function and induce proinflammatory cytokine production in macrophages". (2017): http://hdl.handle.net/1822/49051. 10.1016/j.bbalip.2016.10.009 Encarnação, M.; Espada, L.; Escrevente, C.; Mateus, D.; Ramalho, J.; Michelet, X.; Santarino, I.; et al. "A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair". Journal of Cell Biology 213 6 (2016): 631-640. http://www.scopus.com/inward/record.url?eid=2-s2.0-84975456515&partnerID=MN8TOARS. 10.1083/jcb.201511093 De Pace, R.; Velho, R.V.; Encarnação, M.; Marschner, K.; Braulke, T.; Pohl, S.. "Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex". Human molecular genetics 24 23 (2015): 6826-6835. http://www.scopus.com/inward/record.url?eid=2-s2.0-84964582070&partnerID=MN8TOARS. 10.1093/hmg/ddv387 Coutinho, M.; Encarnação, M.; Gomes, R.; da Silva Santos, L.; Martins, S.; Sirois-Gagnon, D.; Bargal, R.; et al. "Origin and spread of a common deletion causing mucolipidosis type II: Insights from patterns of haplotypic diversity". Clinical Genetics 80 3 (2011): 273-280. http://www.scopus.com/inward/record.url?eid=2-s2.0-79961115962&partnerID=MN8TOARS. 10.1111/j.1399-0004.2010.01539.x Encarnação, M.; Kollmann, K.; Trusch, M.; Braulke, T.; Pohl, S.. "Post-translational modifications of the ¿-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase". Journal of Biological Chemistry 286 7 (2011): 5311-5318. http://www.scopus.com/inward/record.url?eid=2-s2.0-79953159702&partnerID=MN8TOARS. 10.1074/jbc.M110.202382 Kollmann, K.; Pohl, S.; Marschner, K.; Encarnação, M.; Sakwa, I.; Tiede, S.; Poorthuis, B.J.; et al. "Mannose phosphorylation in health and disease". European Journal of Cell Biology 89 1 (2010): 117-123. http://www.scopus.com/inward/record.url?eid=2-s2.0-73649118123&partnerID=MN8TOARS. 10.1016/j.ejcb.2009.10.008 Pohl, S.; Encarnação, M.; Castrichini, M.; Müller-Loennies, S.; Muschol, N.; Braulke, T.. "Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics". American Journal of Medical Genetics, Part A 152 1 (2010): 124-132. http://www.scopus.com/inward/record.url?eid=2-s2.0-75149142903&partnerID=MN8TOARS. 10.1002/ajmg.a.33170 Pohl, S.; Tiede, S.; Marschner, K.; Encarnação, M.; Castrichini, M.; Kollmann, K.; Muschol, N.; et al. "Proteolytic processing of the ¿-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages". Journal of Biological Chemistry 285 31 (2010): 23936-23944. http://www.scopus.com/inward/record.url?eid=2-s2.0-77954897974&partnerID=MN8TOARS. 10.1074/jbc.M110.129684 Encarnação, M.; Lacerda, L.; Costa, R.; Prata, M.J.; Coutinho, M.F.; Ribeiro, H.; Lopes, L.; et al. "Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - Identification of eight novel mutations". Clinical Genetics 76 1 (2009): 76-84. http://www.scopus.com/inward/record.url?eid=2-s2.0-67650875936&partnerID=MN8TOARS. 10.1111/j.1399-0004.2009.01185.x Fernandes, P.A.; Cruz, A.I.S.; Maia, A.R.R.; Almeida, A.A.S.; Da Silva, A.M.N.; Silva, B.F.B.; Ribeiro, C.M.S.; et al. "Design of 2-cyclopentenone derivatives with enhanced NF-¿B: DNA binding inhibitory properties". Journal of Molecular Structure: THEOCHEM 685 1-3 (2004): 73-82. http://www.scopus.com/inward/record.url?eid=2-s2.0-6944250787&partnerID=MN8TOARS. 10.1016/j.theochem.2004.06.027
Newsletter article	Equipas de resposta à emergência do diagnóstico laboratorial da COVID-19 no INSA. "O INSA e a resposta de emergência ao diagnóstico laboratorial da COVID-19 em Portugal", Observações_ Boletim Epidemiológico, 2020, http://repositorio.insa.pt/handle/10400.18/7255. Nogueira, Célia; Silva, Lisbeth; Pereira, Cristina; Lopes, Altina; Encarnação, Marisa; Coutinho, Maria Francisca; Amaral, Olga; Alves, Sandra; Vilarinho, Laura. "DEScobrir, VENcer as Doenças rARas.", Boletim Epidemiológico Observações, 2019, http://www.insa.min-saude.pt/wp-content/uploads/2019/12/15.pdf. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra. "Development of a next generation sequencing assay for a prompt molecular diagnosis of lysosomal storage disorders.", Boletim Epidemiológico Observações. 2018 maio-agosto, 2018, http://hdl.handle.net/10400.18/5589.
Preprint	Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; et al. "Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients". 2024. https://doi.org/10.20944/preprints202402.1708.v1. 10.20944/preprints202402.1708.v1 Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho. "Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step Towards Understanding and Treating Mucopolysaccharidoses". 2023. https://doi.org/10.20944/preprints202303.0552.v1. 10.20944/preprints202303.0552.v1
Thesis / Dissertation	"Structural requirements of the ¿-subunit for assembly and intracellular transport of the GlcNAc-1-phosphotransferase". PhD, 2011. Encarnação, Marisa Alexandra Rego da. "Mucolipidoses II e III: espectro mutacional e correlação com o fenótipo clínico". Master, 2007. http://hdl.handle.net/10773/4376.

Other

Other output

Desenvolvimento de um ensaio de sequenciação de nova geração para acelerar o diagnóstico molecular das doenças lisossomais de sobrecarga. As doenças lisossomais de sobrecarga (DLS) são um grupo de cerca de 70 doenças hereditárias do metabolismo. A sua apresentação clínica é muito heterogénea, variando desde formas pré-natais, até apresentações infantis ou na idade adulta, sendo frequente a presença de atraso psicomotor e neurodegeneração progressiva. Nas DLS, um diagnóstico molecular preciso é muito importante dado que novas terapia. 2018. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra. http://hdl.handle.net/10400.18/5589.
Avanços no diagnóstico das doenças mitocondriais através da sequenciação de nova geração. O recente desenvolvimento da tecnologia de sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular das doenças genéticas raras, de difícil diagnóstico, tais como as doenças mitocondriais. O estudo destas patologias foi implementado em 1993 pelo nosso grupo e até à data foram investigados mais de 2500 doentes portugueses. Muitos destes doentes ainda não dispõem de diagnóstico molecu. 2018. Célia, Nogueira; Pereira, Cristina; Silva, Lisbeth; Encarnação, Marisa; Teles, Elisa Leão; Rodrigues, Esmeralda; Campos, Teresa; et al. http://hdl.handle.net/10400.18/5546.
Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta. While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lyso. 2016. Coutinho, Maria Francisca; Encarnação, Marisa; Laranjeira, Francisco; Lacerda, Lúcia; Prata, Maria João; Alves, Sandra. http://hdl.handle.net/10400.18/4286.
J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173
Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients. Leber's hereditary optic neuropathy (LHON) is a maternal hereditary disease that causes blindness due to optic atrophy, with typical onset during the second or third decade of life and affects predominantly males. The primary etiological factor relates to mutations in the mitochondrial genome. The purposes of this study were the screening of the most common mutations associated with LHON by PCR-RF. 2012. Esteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, Laura. http://hdl.handle.net/10400.18/1170.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2023/10/21	Tangled: a tale about NPC1 Protein Trafficking	AL4Animals Thematic Meeting – Biotech University of Porto (Porto, Portugal)
2023/03/31	Lost (and found) in Translation: the Potential of microRNAs	VI CECA Meeting University of Porto (Porto, Portugal)
2022/09/11	Haplotypic and MicroRNA Profiling in Niemann-Pick type C Portuguese Patients	24th ESGLD Workshop and graduate course University of Manchester (Lancaster, United Kingdom)
2022/06/28	Haplotypic Determination in Portuguese and Brazilian Patients: a founder effect in a Rare Genetic Disorder	3rd International Meeting of the Portuguese Society of Genetics University of Evora (Evora, Portugal)
2019/03	Transcriptomics profiling of Niemann-Pick type c patients – Activation of the unfold protein response in a specific case	15th International SPDM (Portuguese Society for Metabolic Disorders) Symposium (Coimbra, Portugal)
2019	Genomics and transcriptomics approach - diagnosis of a challenging case of Niemann-Pick type C (NP-C)	GenomePT
2019	Assessing Niemann-Pick Type C (NP-C) through a multi-omics approach genomic and transcriptomic profile of challenging cases	22nd ESGLD Workshop and Graduate Course (Spain)
2017	Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases
2017	Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing

Supervision

	Thesis Title Role	Degree Subject (Type) Institution / Organization
2024/12 - Current	Mitigating methane emissions in sheep farming: the effect of biochar and macroalgae on ruminal methanogenesis, rumen microbiome and manure emissions Co-supervisor	Programa Doutoral em Ciência Animal (PhD) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024/02/17 - Current	Modelos celulares para estudo funcional de novas variantes numa Doença Lisossomal de Sobrecarga Supervisor	Bioquímica (Degree) Universidade do Porto Faculdade de Ciências, Portugal
2023/10 - 2024/12/04	RNAs in Lysosomal Storage Disorders: cellular targets and possible biomarkers Supervisor	Master in Molecular and Cell Biology (Master) Universidade de Aveiro, Portugal
2022/10 - 2023/09	Molecular and Functional Studies on Niemann-Pick Type C Disease Supervisor	Mestrado em Biologia Celular e Molecular (Master) Universidade do Porto Departamento de Química e Bioquímica, Portugal

Event organisation

	Event name Type of event (Role)	Institution / Organization
2015/07/02 - 2016/07/01	Organizing committee of the 1st CEDOC Symposium on Chronic Diseases FCM - NOVA, Lisboa. Topics: Inflammation and Metabolic Diseases; Stem Cells and Regenerative Medicine; Mental Health and Neurosciences; Rare Diseases. (2016/06/30 - 2016/07/01) Symposium (Member of the Organising Committee)	Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal

Jury of academic degree

	Topic Role	Candidate name (Type of degree) Institution / Organization
2024/12/04	RNAs in Lysosomal Storage Disorders: cellular targets and possible biomarkers Supervisor	Ana Catarina Sandiares (Master) Universidade de Aveiro, Portugal
2023/11/29	Molecular and Functional Studies on Niemann-Pick Type C Disease Supervisor	Hugo Daniel Sousa David (Master) Universidade do Porto Departamento de Química e Bioquímica, Portugal
2021/02	Biochemical and Molecular approaches for diagnosis of Inherited Metabolic Diseases (Thesis) Main arguer	Júlia Alexandra Martins Gomes (Master) Universidade de Aveiro, Portugal
2020/07	Biochemical and Molecular diagnosis of Lysosomal Storage Disorders using Dry Blood Spots (Thesis) Main arguer	Ana Margarida Silva Pinho (Other) Instituto Politécnico do Porto, Portugal

Conference scientific committee

	Conference name	Conference host
2010/05 - 2010/05	1st International Symposium for PhD students on Protein Trafficking in Health and Disease	University Medical Center Hamburg-Eppendorf

Course / Discipline taught

	Academic session	Degree Subject (Type)	Institution / Organization
2019/09 - 2019/11	Tecnologias Biomoleculares e Biomédicas	Biomedical Sciences (Licenciatura)	Cooperativa de Ensino Superior Politécnico e Universitário, Portugal
2019/02 - 2019/02	Academic Lecture with the tittle: Mecanismos das Doenças Lisossomais de Sobrecarga – Caso de uma Doença Rara Neurodegenerativa	Biochemistry for Health (Mestrado)	Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
2017 - 2017	Lysosomal Storage Disorders	Biological Sciences Applied to Health	Cooperativa de Ensino Superior Politécnico e Universitário, Portugal

Mentoring / Tutoring

	Topic	Student name
2023/03 - 2023/05	Lysosomal Storage Disorders: from diagnosis to research	Paula Figueira
2023/02 - 2023/03	Techniques and tools for the diagnosis and therapeutic development in Lysosomal Storage Diseases	Celine Erb
2021/09 - 2022/06	Study of Niemann-Pick type C patients using Next-Generation Sequencing	Tatiane Grazieli Hammerschmidt

Distinctions

Award

2019	ESGLD travel award