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Paulo Jorge Miranda da Silva Gaspar has completed his PhD in Biomedical Sciences in 2016 at the University of Porto (Instituto de Ciências Biomédicas Abel Salazar) and his Degree in Biology (Scientific Branch) in 2002 at Faculty of Sciences from the University of Porto. Currently, he is an Auxiliary Researcher at the National Institute of Health Dr. Ricardo Jorge in Portugal. His major focus of work is the study and investigation of new biomarkers for diagnosis and follow-up of rare diseases, particularly Lysosomal Storage Diseases (LSDs). He was also the responsible for implementing most routine procedures for the biochemical characterization of LSD patient at the Newborn Screening, Metabolism and Genetics Unit/INSA. He has published 22 articles in specialized journals and received 4 awards and/or honors. He participates in a number of relevant project in Inherited Metabolic Disorders.
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Identification

Personal identification

Full name
Paulo Jorge Miranda da Silva Gaspar

Citation names

  • Gaspar, Paulo
  • Gaspar P

Author identifiers

Ciência ID
7213-8E3E-DC0D
ORCID iD
0000-0002-4255-0946
Researcher Id
K-4425-2013
Scopus Author Id
57201454370

Email addresses

  • paulo.gaspar@insa.min-saude.pt (Professional)

Telephones

Telephone
  • 223401136 (Professional)

Addresses

  • Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P:. Rua Alexandre Herculano, n321, 4000 - 055, Porto, Porto, Portugal (Professional)

Knowledge fields

  • Medical and Health Sciences - Medical Biotechnology - Gene-based Diagnostics and Therapeutic Interventions

Languages

Language Speaking Reading Writing Listening Peer-review
English Intermediate (B1) Advanced (C1) Intermediate (B1) Intermediate (B1)
French Beginner (A1) Beginner (A1) Beginner (A1)
Portuguese Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Spanish; Castilian Intermediate (B1) Advanced (C1) Beginner (A1) Intermediate (B1)
Education
Degree Classification
2016
Concluded
 Ciências Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Impact of LIMP-2 deficiency on lysosome composition and function" (THESIS/DISSERTATION)
 Aprovado com distinção
2002
Concluded
 Biologia - Ramo Cientifico ( Pré-Bolonha) (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Estágio - Estudo da diversidade hapliotípica nas regiões autossómicas do genoma humano com alta diferenciação interpopulacional: Análise do loci SB19.3 e LPL em amostras de Portugal e São Tomé" (THESIS/DISSERTATION)
 13
Affiliation

Science

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

Others

Category
Host institution 		Employer
2016/02/01 - 2020 Estudo e investigação de novos Biomarcadores para diagnóstico e follow-up de doenças raras, especialmente das doenças lisossomais de sobrecarga. Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2015/05/01 - 2015/11/30 Service provider - [PT] Prestador de Serviço - Diagnóstico e follow-up de doentes com patologias de doenças lisossomais de sobrecarga. Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2011/05/01 - 2015/04/30 PhD Student - [PT] Aluno de Doutoramento com bolsa da FCT (SFRH/BD/72862/2010) do projecto com o título: Impact of LIMP-2 deficiency on Lysosome composition and function Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2005/07/01 - 2011/03/31 Research Fellow - [PT] Implementação de novos métodos de diagnóstico de DLS. Investigador num projecto Ibérico para determinação da frequência da doença de Fabry em populações de risco. Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2003/01/01 - 2005/06/30 Senior Health Technician - [PT] TSS envolvido no diagnóstico bioquímico de doenças do ciclo da ureia, aminoacidopatias e acidúrias orgânicas (HPLC, GC-MS e troca-iónica). Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2002/02 - 2002/07 Trainee - [PT] Estágio de licenciatura: 'Estudo da diversidade haplotípica das regiões autossómicas do genoma humano com alta diferenciação: loci SB19.3 e LPL em amostras de Portugal e S Tomé' Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Projects

Contract

Designation Funders
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
10.54499/2022.04667.PTDC
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Centro Hospitalar Universitário de Santo António, Portugal

Universidade do Porto Faculdade de Desporto, Portugal

Centro Hospitalar Universitário Lisboa Norte EPE, Portugal

Instituto de Astrofísica e Ciências do Espaço, Portugal

Centro Hospitalar Universitário de São João, Portugal

Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2022/01/01 - 2023/06/30 Desenvolvimento de modelos in vitro e in vivo para a doença de Sanfilippo
EXPL/BTM-SAL/0659/2021
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2022 - 2023/06/30 Neurological disease modeling for Mucopolysaccharidosis type III: a key step towards understanding and treating a rare genetic disorder
EXPL/BTM-SAL/0659/2021
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2021 - 2022/12/31 Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type II
2020DGH1834
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Portuguese Society for Metabolic Disorders (Sociedade Portuguesa de Doenças Metabólicas), SPDM
Ongoing
2020 - 2022/12/31 Genetic Substrate Reduction Therapy for Mucopolysaccharidoses - Toward a siRNA-containing nanoparticle targeted to brain cells
2019DGH1656/SCF2019I&D
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Sanfilippo Children's Foundation
Ongoing
2019 - 2022/12/31 Genetic Substrate Reduction Therapy for Mucopolysaccharidoses Toward a siRNA-containing nanoparticle targeted to brain cells
2019DGH1629/SPDM2018I&D
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Portuguese Society for Metabolic Disorders (Sociedade Portuguesa de Doenças Metabólicas), SPDM
Ongoing
2011/03/01 - 2014/11/30 Cross-talk between the pathogenic mechanisms of Lysosomal Storage Diseases and the lipid antigen presentation (Inter-relações entre os mecanismos patogénicos das Doenças de Sobrecarga Lisosomal e a apresentação de antigénios lipídicos)
PTDC/SAU-ORG/110112/2009
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2011/03/01 - 2014/11/30 Inter-relações entre os mecanismos patogénicos das Doenças de Sobrecarga Lisosomal e a apresentação de antigénios lipídicos
PTDC/SAU-ORG/110112/2009
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2010/04/01 - 2014/01/31 LIMP-2 studies: from clinical genetics to functional genomics and back (LIMP-2: da genética clínica à genómica funcional)
PTDC/SAU-GMG/105344/2008
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2010/04/01 - 2014/01/31 LIMP-2: da genética clínica à genómica funcional
PTDC/SAU-GMG/105344/2008
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2011/01/01 - 2012/12/31 Projecto Estratégico - LA 2 - 2011-2012
PEst-C/SAU/LA0002/2011
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Instituto Nacional de Engenharia Biomédica, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2020/09/01 - Current Project LINCE [A diagnostic tool for NCL type 1 (CLN1) and type 2 (CLN2)]
n.a.
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016/02/01 - Current Project FIND [A diagnostic tool for Mucopolysaccharidoses (MPS)]
n.a.
Researcher
2015 - Current STRATEGIC PROJECT i3S (Projecto Estratégico - I3S)
UID/BIM/04293/2013
Other
Fundação para a Ciência e a Tecnologia, Portugal
2013 - Current STRATEGIC PROJECT LA2 (Projecto Estratégico - LA2)
PESt-C/SAU/LA0002/2013
Other
Fundação para a Ciência e a Tecnologia, Portugal
2011 - Current STRATEGIC PROJECT (Projecto Estratégico - LA)
PESt-C/SAU/LA002/2011
Other
Fundação para a Ciência e a Tecnologia, Portugal
2007 - 2012 Epidemiological study and determination of the prevalence of lysosomal storage diseases - Portugal and Spain (Estudo Epidemiologico e de determinação da prevalência das doenças lisossomais de sobrecarga - Portugal e EspanhaI)
n.a.
Researcher
Outputs

Publications

Conference paper
  1. 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.
  2. 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.
  3. 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.
  4. Santos, Juliana Inês; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra. "Genetically Modulated Substrate Reduction Therapy for Sanfilippo Syndrome: Proof of Principle". 2018.
  5. Gaspar, Paulo; Rocha, Hugo; Alves, Sandra; Vilarinho, Laura. "Novos biomarcadores nas DLS´s: O que eles nos dizem". 2018.
  6. Gaspar, Paulo; alves, sandra; Teles, Elisa Leão; Diogo, Luisa; Vilarinho, Laura. "Projet FIND - the first year". 2018.
  7. Matos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra. "Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC". 2017.
  8. Gaspar, Paulo; Alves, Sandra; Leão Teles, Elisa; vilarinho, Laura. "Projecto FIND - A importância de um diagnóstico". 2017.
  9. Gaspar, Paulo; Alves, Sandra; Leão Teles, Elisa; Vilarinho, Laura. "Projeto FIND: a importância de um diagnóstico". 2017.
  10. Matos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra. "Use of an antisense-mediated exon skipping approach as a therapeutic option for a common Mucolipidosis type II causing mutation". 2017.
  11. Gaspar, Paulo; Kallemeijn, Wouter; Strijland, Anneke; Van Eijk, Marco; Van Roomen, Cindy; Ottenhoff, Roloef; Mirzaian, Mina; et al. "Tissue and cell-type dependent impact of secondary glucocerebrosidase abnormalities due to LIMP-2 deficiency". 2017.
  12. Gaspar, Paulo; Alves, Sandra; Vilarinho, Laura. "Lysossomal acid lipase activity in dried blood spots - preliminar results". 2017.
  13. Gaspar, Paulo; Rocha, Hugo; Alves, Sandra; Vilarinho, Laura. "LysoGl1 e LysoGb3: biomarcadores para o diagnóstico e follow-up da Doença de Gaucher e Fabry". 2017.
  14. Gaspar, Paulo; Alves, Sandra; Leão Teles, Elisa; Vilarinho, Laura. "FIND: a importância de um diagnóstico". 2017.
  15. Matos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra. "Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II". 2017.
  16. Coutinho, Maria Francisca; Santos, Juliana Inês; Gaspar, Paulo; Alves, Sandra. "Genetically modulated Substrate Reduction Therapy for Mucopolysaccharidoses – in vitro studies". 2017.
  17. Gaspar, Paulo; Alves, Sandra; Leão Teles, Elisa; Vilarinho, Laura. "FIND: a importância de um diagnóstico". 2017.
  18. Lopes, Eduardo; Gaspar, Paulo. ""Teoria e Performance: A análise tradicional na improvisação jazzística"". Paper presented in Performa, 2007.
Conference poster
  1. Carvalho, S.; Santos, J.I.; Moreira, L.; Gaspar, P.; Gonçalves, M.; Matos, L.; Encarnação, M.; et al. "The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders". Paper presented in 2th AL4AnimalS Meeting, 2023.
  2. 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.
  3. 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.
  4. 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.
  5. Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Gaspar, Paulo; Pires, Mª João; Oliveira, Paula; Prata, Mª João; Coutinho, Mª Francisca; Alves, Sandra. "RNA as a therapeutic tool in Mucopolysaccharidoses". Paper presented in 22nd ESGLD Workshop, 2022.
  6. 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.
  7. 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.
  8. 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.
  9. Santos, Juliana Inês; Coutinho, Maria Francisca; Gaspar, Paulo; Prata, Maria João; Alves, Sandra. "When less is actually more: in vitro assessment of the potential of anti-XYLT1 siRNAs to promote substrate reduction in Mucopolysaccharidosis type III". Paper presented in 2021 RNA Therapeutics Symposium: From Concept to Clinic, 2021.
  10. Coutinho, Maria Francisca; Santos, Juliana Inês; Carvalho, Sofia; Ribeiro, Diogo; Gaspar, Paulo; Matos, Liliana; Duarte, Ana Joana; et al. "The 2020s tooth fairy: from loose tooth to neuronal cell cultures, an innovative method to model neurologic Lysosomal Storage Diseases in vitro". Paper presented in 25th Annual Meeting SPGH, 2021.
  11. Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Gaspar, Paulo; Pires, Maria João; Oliveira, Paula; Prata, Maria João; Coutinho, Maria Francisca; Alves, Sandra. "Targeted RNA-based therapies for Mucopolysaccharidosis". Paper presented in 16th International Symposium on MPS and Related Diseases, 2021.
  12. Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Gaspar, Paulo; Pires, Maria João; Oliveira, Paula; Prata, Maria João; Coutinho, Maria Francisca; Alves, Sandra. "Assessing the potential of RNA-based therapeutics for a group of Lysosomal Storage Diseases with neurological involvement". Paper presented in 25th Annual Meeting SPGH, 2021.
  13. Coutinho, Maria Francisca; Santos, Juliana Inês; Gaspar, Paulo; Alves, Sandra. "Genetic Substrate Reduction Therapy for Mucopolysaccharidoses type III: toward a siRNA-containing nanoparticle targeted to brain cells.". Paper presented in 22nd ESGLD Workshop, 2019.
  14. Matos, Liliana; Santos, Juliana Inês; Rocha, Melissa; Coutinho, Maria Francisca; Gaspar, Paulo; Velho, Renata; Braukle, Thomas; Prata, Maria João; Alves, Sandra. "Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases". Paper presented in 1º Congresso Nacional Doenças Raras, 2019.
  15. Coutinho, Maria Francisca; Santos, Juliana; Gaspar, Paulo; Alves, Sandra. "Substrate reduction therapy for Mucopolysaccharidoses - in vitro studies". Paper presented in 21st ESGLD, 2017.
Journal article
  1. Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; 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 (2024): https://doi.org/10.3390/ijms25063546.
    10.3390/ijms25063546
  2. 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". Endocrine, Metabolic & Immune Disorders - Drug Targets 24 (2023): http://dx.doi.org/10.2174/0118715303277318231024055425.
    10.2174/0118715303277318231024055425
  3. Pais-Vieira C; Gaspar P; Matos D; Alves LP; da Cruz BM; Azevedo MJ; Gago M; et al. "Embodiment Comfort Levels During Motor Imagery Training Combined With Immersive Virtual Reality in a Spinal Cord Injury Patient.". Frontiers in human neuroscience (2022): http://europepmc.org/abstract/med/35669203.
    10.3389/fnhum.2022.909112
  4. Matos, Liliana; Vilela, Regina; Rocha, Melissa; Santos, Juliana Inês; Coutinho, Maria Francisca; Gaspar, Paulo; Prata, Maria João; Alves, Sandra. "Development of an antisense oligonucleotide-mediated exon skipping therapeutic strategy for Mucolipidosis II: validation at RNA level". (2020): http://hdl.handle.net/10400.18/6459.
    10.1089/hum.2020.034
  5. Azevedo, O.; Marques, N.; Reis, L.; Cruz, I.; Craveiro, N.; Antunes, H.; Lourenço, C.; et al. "Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?: Fabry predictors in hypertrophic cardiomyopathy". American Heart Journal 226 (2020): 114-126. http://www.scopus.com/inward/record.url?eid=2-s2.0-85086121744&partnerID=MN8TOARS.
    10.1016/j.ahj.2020.04.006
  6. Gago, M.F.; Azevedo, O.; Guimarães, A.; Teresa Vide, A.; Lamas, N.J.; Oliveira, T.G.; Gaspar, P.; et al. "Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees". Journal of Parkinson's Disease 10 1 (2020): 141-152. http://www.scopus.com/inward/record.url?eid=2-s2.0-85078502643&partnerID=MN8TOARS.
    10.3233/JPD-191704
  7. Azevedo, O.; Gal, A.; Faria, R.; Gaspar, P.; Miltenberger-Miltenyi, G.; Gago, M.F.; Dias, F.; et al. "Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype". Molecular Genetics and Metabolism 129 2 (2020): 150-160. http://www.scopus.com/inward/record.url?eid=2-s2.0-85071925502&partnerID=MN8TOARS.
    10.1016/j.ymgme.2019.07.012
  8. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra. "Desenvolvimento de um ensaio de sequenciação de nova geração para acelerar o diagnóstico molecular das doenças lisossomais de sobrecarga". (2018): http://hdl.handle.net/10400.18/5589.
  9. van der Lienden, Martijn; Gaspar, Paulo; Boot, Rolf; Aerts, Johannes; van Eijk, Marco. "Glycoprotein Non-Metastatic Protein B: an Emerging Biomarker for Lysosomal Dysfunction in Macrophages". (2018): http://hdl.handle.net/10400.18/6262.
    10.3390/ijms20010066
  10. Mirzaian M; Wisse P; Ferraz MJ; Marques AR; Gaspar P; Oussoren SV; Kytidou K; et al. "Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards.". (2017): http://europepmc.org/abstract/med/28089753.
    10.1016/j.cca.2017.01.014
  11. Azevedo O; Gago M; Miltenberger-Miltenyi G; Gaspar P; Sousa N; Cunha D. "Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease.". (2017): http://europepmc.org/abstract/med/28152533.
    10.1159/000455117
  12. Gaspar, Paulo; Alves, Sandra; Teles, Elisa Leão; Vilarinho, Laura. "FIND: a importância do diagnóstico no tratamento das mucopolissacaridoses". (2017): http://hdl.handle.net/10400.18/4711.
  13. Azevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel; Gaspar, Paulo; Sousa, Nuno; Cunha, Damião. "Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease". (2017): http://hdl.handle.net/1822/62006.
    10.1159/000455117
  14. Aerts, Johannes M.; Ferraz, Maria J.; Mirzaian, Mina; Gaspar, Paulo; Oussoren, Saskia V.; Wisse, Patrick; Kuo, Chi-Lin; et al. "Lysosomal Storage Diseases. For Better or Worse: Adapting to Defective Lysosomal Glycosphingolipid Breakdown". (2017): http://hdl.handle.net/10400.18/5477.
    10.1002/9780470015902.a0027592
  15. Azevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel; Gaspar, Paulo; Sousa, Nuno; Cunha, Damião. "Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease". (2017): http://hdl.handle.net/10400.18/5478.
    10.1159/000455117
  16. Guedes, L.C.; Chan, R.B.; Gomes, M.A.; Conceição, V.A.; Machado, R.B.; Soares, T.; Xu, Y.; et al. "Serum lipid alterations in GBA-associated Parkinson's disease". Parkinsonism and Related Disorders 44 (2017): 58-65. http://www.scopus.com/inward/record.url?eid=2-s2.0-85028846284&partnerID=MN8TOARS.
    10.1016/j.parkreldis.2017.08.026
  17. Kramer G; Wegdam W; Donker-Koopman W; Ottenhoff R; Gaspar P; Verhoek M; Nelson J; et al. "Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models.". (2016): http://europepmc.org/abstract/med/27642553.
    10.1002/2211-5463.12078
  18. Marques AR; Mirzaian M; Akiyama H; Wisse P; Ferraz MJ; Gaspar P; Ghauharali-van der Vlugt K; et al. "Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular ß-glucosidases.". (2016): http://europepmc.org/abstract/med/26724485.
    10.1194/jlr.m064923
  19. Ferraz MJ; Marques AR; Gaspar P; Mirzaian M; van Roomen C; Ottenhoff R; Alfonso P; et al. "Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.". (2016): http://europepmc.org/abstract/med/26750750.
    10.1016/j.ymgme.2015.12.006
  20. Rothaug M; Zunke F; Mazzulli JR; Schweizer M; Altmeppen H; Lüllmann-Rauch R; Kallemeijn WW; et al. "LIMP-2 expression is critical for ß-glucocerebrosidase activity and a-synuclein clearance.". (2014): http://europepmc.org/abstract/med/25316793.
    10.1073/pnas.1405700111
  21. Gaspar, P.; Kallemeijn, W.W.; Strijland, A.; Scheij, S.; Van Eijk, M.; Aten, J.; Overkleeft, H.S.; et al. "Action myoclonus-renal failure syndrome: Diagnostic applications of activity-based probes and lipid analysis". Journal of Lipid Research 55 1 (2014): 138-145. http://www.scopus.com/inward/record.url?eid=2-s2.0-84891352709&partnerID=MN8TOARS.
    10.1194/jlr.M043802
  22. Gaspar P; Kallemeijn WW; Strijland A; Scheij S; Eijk MV; Aten J; Overkleeft HS; et al. "Action Myoclonus Renal Failure syndrome: diagnostic applications of activity-based probes and lipid analysis.". (2013): http://europepmc.org/abstract/med/24212238.
  23. Azevedo, Olga; Gaspar, Paulo; Miranda, Clara Sa; Cunha, Damiao; Medeiros, Rosa; Lourenco, Antonio. "Left Ventricular Noncompaction in a Patient with Fabry Disease: Overdiagnosis, Morphological Manifestation of Fabry Disease or Two Unrelated Rare Conditions in the Same Patient?". Cardiology 119 3 (2011): 155-159.
    10.1159/000330924
  24. Chaves, Joao; Beirao, Idalina; Balreira, Andrea; Gaspar, Paulo; Caiola, Daniel; Clara Sa-Miranda, M.; Lima, Jose L.. "Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings". Seizure-European Journal of Epilepsy 20 9 (2011): 738-740.
    10.1016/j.seizure.2011.06.018
  25. Azevedo, Olga; Gaspar, Paulo; Miranda, Clara Sa; Cunha, Damiao; Medeiros, Rosa; Lourenco, Antonio. "Left Ventricular Noncompaction in a Patient with Fabry Disease: An Unresolved Challenge". Cardiology 120 2 (2011): 97-99.
    10.1159/000334870
  26. Gaspar, Paulo; Herrera, Julio; Rodrigues, Daniel; Cerezo, Sebastian; Delgado, Rodrigo; Andrade, Carlos F.; Forascepi, Ramon; et al. "Frequency of Fabry disease in male and female haemodialysis patients in Spain". Bmc Medical Genetics 11 (2010):
    10.1186/1471-2350-11-19
  27. Balreira, Andrea; Gaspar, Paulo; Caiola, Daniel; Chaves, Joao; Beirao, Idalina; Lima, Jose Lopes; Azevedo, Jorge Eduardo; Miranda, Maria Clara Sa. "A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome". Human Molecular Genetics 17 14 (2008): 2238-2243.
    10.1093/hmg/ddn124
  28. Oliveira, J. P.; Ferreira, S.; Barcelo, J.; Gaspar, P.; Carvalho, F.; Miranda, M. C. Sa; Mansson, J. -E.. "Effect of single-nucleotide polymorphisms of the 5 ' untranslated region of the human alpha-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians". Journal of Inherited Metabolic Disease 31 (2008): S247-S253.
    10.1007/s10545-008-0818-9
  29. Vilarinho, L; Cardoso, M L; Gaspar, P; Barbot, C; Azevedo, L; Diogo, L; Santos, M; et al. "Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.". Human mutation 26 4 (2005): 395-6.
    10.1002/humu.9373
  30. Gaspar, P; Seixas, S; Rocha, J. "Genetic variation in a compound short tandem repeat/Alu haplotype system at the SB19.3 locus: Properties and interpretation". Human Biology 76 2 (2004): 277-287.
    10.1353/hub.2004.0032
Newsletter article
  1. 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
  1. 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
Thesis / Dissertation
  1. Paulo Jorge Miranda da Silva Gaspar. "Impact of LIMP-2 deficiency on lysosome composition and function". PhD, 2016. https://repositorio-aberto.up.pt/handle/10216/90783.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2021/10 Invited Lecture: Coutinho MF**, Santos JI, Carvalho S, Gaspar P, Gonçalves M, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Amaral O, Rocha H, Prata MJ, Alves S. Uma fada minúscula e um peixe tropical: heróis improváveis na luta contra uma doença rara [A tiny fairy and a tropical fish: unlikely heroes in the fight against a rare disease] **Presenting author V Jornadas do CECA
ICBAS (Porto, Portugal)
2021/10 Invited Lecture: Matos L, Coutinho MF, Santos JI, Gonçalves M, Duarte AJ, Ribeiro D, Moreira L, Encarnação M, Gaspar P, Amaral O, Carvalho S, Alves S**. RNA como alvo terapêutico: Desenvolvimento de abordagens inovadoras utilizando oligonucleótidos sintéticos [Targeting RNA as a therapeutic option: development of innovative approaches using synthethic oligonucleotides]. **Presenting author V Jornadas do CECA
ICBAS (Porto, Portugal)
2021/09 Invited Lecture: Coutinho MF, Matos L, Santos JI, Gonçalves M, Gaspar P, Alves S**. RNA como alvo terapêutico: Desenvolvimento de abordagens inovadoras utilizando oligonucleótidos sintéticos [Targeting RNA as a therapeutic option: development of innovative approaches using synthethic oligonucleotides]. **Presenting author MPS 360
(Porto, Portugal)
2021/09 Invited Lecture: Coutinho MF**, Santos JI, Carvalho S, Gaspar P, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Teles EL, Martins E, Garcia P, Janeiro P, Marques R, Silva, Prata MJ, Alves S. Apresentação do Projeto “A Fada dos Dentes 2020”, um método para estabelecer linhas celulares neuronais a partir de dentes de leite de doentes com Mucopolissacaridoses [Presentation of the “The Tooth Fairy 2020” project, a method to establish neuronal cell lines from baby teeth of patients with Mucopolysaccharidoses. **Presenting author MPS 360
(Porto, Portugal)
2021/09 Invited Lecture: Liliana Matos, Francisca Coutinho, Juliana Santos, Mariana Gonçalves, Paulo Gaspar, Sandra Alves**. Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type II. **Presenting author 17th International Symposium SPDM (Sociedade Portuguesa de Doenças Metabólicas)
(Fátima, Portugal)
2019/10 Encarnação M**, Coutinho MF, Cho SM, Cardoso MT, Chaves P, Ribeiro I, Santos JI, Gaspar P, Quelhas D, Lacerda L, Leão-Teles E, Futerman AH, Vilarinho L, Alves S. Assessing Niemann- Pick type C (NP-C) through a multi-omics approach: genomic and transcriptomic profile of challenging cases. **Presenting author 22nd ESGLD (European Study Group on Lysosomal Diseases) Workshop
(Vic, Spain)

Association member

Society Organization name Role
2018 - Current Sociedade Portuguesa de Doenças Metabólicas

Committee member

Activity description
Role 		Institution / Organization
2021 - Current Member of the Working Group on Lysosomal Storage Disorders (Grupo de Trabalho em Doenças Lisossomais de Sobrecarga) of the Portuguese Society of Metabolic Diseases (SPDM, Sociedade Portuguesa de Doenças Metabólicas).
Member
 Portuguese Society for Metabolic Disorders (Sociedade Portuguesa de Doenças Metabólicas), SPDM, Portugal
Distinctions

Award

2018 Honorable Mention for Oral Presentation - to the work 'Development of an antisense-mediated exon skipping strategy to correct a frequent causing mutation in Mucolipidosis II' by Matos L**, Vilela R, Coutinho MF, Gaspar P, Alves S (**Presenting author)
2018 Best Oral Presentation - attributed to the work 'Genetically Modulated Substrate Reduction Therapy for Sanfilippo Syndrome - Proof of Principle' by Santos JI*, Coutinho MF*,**, Gaspar P, Alves S (**Presenting author)
2017 Best Poster
2017 Best Poster - attributed to the work 'Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC' by Matos L**, Vilela R, Coutinho MF, Gaspar P, Alves S. (**Presenting author)
2017 Honorable Mention for Oral Presentation - attributed to the work 'Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_35044delTC' by Matos L**,Vilela R,Coutinho MF,Gaspar P, Alves S
2014 Best Poster
2011 Best Poster - 'The frequency of Fabry disease within three types of high-risk population: a Portuguese and Spanish study'
2008 Best Oral Presentation - attributed to the work 'Limp-2 sorting Pathway: a cell type specific deficiency of beta-glucocerebrosidase' byBalreira A, Gaspar P, Caiola D, Chaves J, Beirão I, Lima JL, Azevedo JE, Miranda MC**. (**Presenting author)