Pedro Miguel Teixeira Brites (5B1D-915A-2994)

Curriculum Vitae

Pedro Miguel Teixeira Brites

Pedro Miguel Teixeira Brites graduated in Biology at the Faculty of Sciences, University of Porto, and obtained his Ph.D. in Medicine at the Faculty of Medicine, University of Amsterdam. His research as a Ph.D. student contributed to identifying the gene associated with the peroxisomal disorder Rhizomelic Chondrodysplasia Punctata (RCDP; published in Nature Genetics) and elucidating the molecular basis of this disease (two publications in the American Journal of Human Genetics). This work highlighted plasmalogens' role, a class of ether-phospholipids, as key cellular constituents whose deficiency dictates the disease state and presentation. P.Brites subsequently characterized mouse models of two peroxisomal disorders to further understand the consequences of impaired peroxisomal functioning (published in Human Molecular Genetics and the Proceedings of the National Academy of Sciences, USA). The importance of these mouse models was highlighted by the identification that a deficiency in plasmalogens modulates nervous tissue pathology (published in Brain). In 2009, P. Brites joined the Nerve Regeneration group at Instituto de Biologia Molecular e Celular - IBMC, Porto, and initiated independent research focused on understanding plasmalogens' role in nervous tissue and dissecting the cellular mechanisms governed by these phospholipids. Recent work unraveled that ether-phospholipids regulate AKT activation to mediate Schwann cell development and myelination (published in Journal Clinical Investigation) and protect myelin from oxidative damage (published in Free Radical Biology and Medicine). The translational efforts led to the first proposal of a replacement therapy for plasmalogen defects (published in Plos One) and discovering alternative agents capable of bypassing the need for plasmalogens (published in Journal Clinical Investigation and Brain Pathology). P.Brites supervised 9 undergraduate students, 5 MSc students, 5 researcher technicians, 2 Ph.D. students, and 3 post-docs. Since 2017, P.Brites is the group leader of the Neurolipid biology group at IBMC and i3S that aims at understanding how (phospho) lipids govern fundamental cellular processes, how a lipid dysregulation of these processes mediates the pathophysiology, and use the knowledge gathered to develop effective therapeutic strategies. P.Brites serves as Scientific Coordinator of the Histology and Electron Microscopy Sciences platform at i3S, and of the unit for the generation of mutant mice using CRISPR-cas9 technology within the Animal Facility at i3S.

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Identification

Personal identification

Full name: Pedro Miguel Teixeira Brites

Citation names

Brites, Pedro

Author identifiers

Ciência ID: 5B1D-915A-2994
ORCID iD: 0000-0003-1754-1543
Researcher Id: K-4231-2013

Email addresses

pedro.brites@ibmc.up.pt (Professional)

Addresses

Instituto de Investigação e Inovação em Saúde - i3S. Neurolipid Biology group - Rua Alfredo Allen 208, 4200-135, Porto, Porto, Portugal (Professional)

Websites

https://www.i3s.up.pt/content/research-group-detail?x=110 (Professional)

Knowledge fields

Medical and Health Sciences
Medical and Health Sciences - Basic Medicine - Neurosciences

Languages

Language	Speaking	Reading	Writing	Listening
English	Advanced (C1)	Advanced (C1)	Advanced (C1)	Advanced (C1)
Dutch	Beginner (A1)	Intermediate (B1)	Beginner (A1)	Beginner (A1)
French	Beginner (A1)	Intermediate (B1)	Beginner (A1)	Beginner (A1)

Education

	Degree	Classification
2009 Concluded	Medicine (Doutoramento) Universiteit van Amsterdam, Netherlands "The mouse as a model to understand peroxisomal disorders" (THESIS/DISSERTATION)	N.A.
1998 Attended	Biologia (Licenciatura) Universidade do Porto Faculdade de Ciências, Portugal "Molecular and biochemical studies in human peroxisomal disorders" (THESIS/DISSERTATION)	12

Affiliation

Science

	Category Host institution	Employer
2020/07/01 - Current	Principal Investigator (Research)	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

2019/01/01 - 2020/06/30	Principal Investigator (Research)	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

2013/06/26 - 2018/06/30	Auxiliary Researcher (Research)	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

2009/02/01 - 2013/06/24	Postdoc (Research)	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

2001/02/01 - 2008/11/30	Researcher (Research)	Academisch Medisch Centrum Faculteit Geneeskunde, Netherlands

Teaching in Higher Education

	Category Host institution	Employer
2009/02/01 - Current	Lecturer (University Teacher)	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Positions / Appointments

	Category Host institution	Employer
2020/07/01 - Current	Principal researcher appointment under the FCT CEEC ind - ceecind/02086	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

2018/01/02 - Current	Scientific coordinator of the production of genetically modified mice at i3S animal facility	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

2017/01/10 - Current	Scientific coordinator of the Histology and Electron Microscopy facility	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2017/01/01 - Current	Group Leader of the Neurolipid Biology	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

2013/06/15 - 2018/06/14	Assistant researcher position under FCT Investigator . IF/00107/2012	Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Others

	Category Host institution	Employer
1996/10/16 - 2000/11/30	Pre-doctoral fellow under the supervion of Prof. Dr. Henk F. Tabak	Academisch Medisch Centrum Faculteit Geneeskunde, Netherlands

1995/09/15 - 1996/09/30	Graduate student	Instituto Gulbenkian de Ciência, Portugal

1993/06/14 - 1995/08/31	Research Intern	Centro de Genética Médica Doutor Jacinto Magalhães, Portugal

Projects

Contract

	Designation	Funders
2022/04/01 - Current	Unravelling the pathology and disease mechanisms of the newly identified leukoencephalopathy caused by impaired choline transport ELA 2021-004I3 Principal investigator Association Européenne contre les Leucodystrophies, France	Ongoing
2018/07/01 - Current	"Unraveling the neuropathology caused by plasmalogen deficiency: consequences, mechanism and treatment" PTDC/MED-PAT/30558/2017 €239882 Principal investigator Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2021/01/01 - 2025/12/31	Institute for Research and Innovation in Health LA/P/0070/2020 Instituto Nacional de Engenharia Biomédica, Portugal Universidade do Porto, Portugal Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2018/07/01 - 2021/06/30	Determinação da neuropatologia por detrás de uma deficiência em plasmalogénios: consequências, mecanismos e terapia. PTDC/MED-PAT/30558/2017 Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2019/01/01 - 2019/12/31	Instituto de Investigação e Inovação em Saúde UID/BIM/04293/2019 Instituto Nacional de Engenharia Biomédica, Portugal Universidade do Porto, Portugal Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2016/04/01 - 2019/12/31	Porto Neurosciences and Neurologic Disease Research Initiative at i3S (PortoNeuroDRIve@i3S) NORTE-01-0145-FEDER- 000008 €80000 Principal investigator	Fundação para a Ciência e a Tecnologia Comissao de Coordenacao e Desenvolvimento Regional do Norte
2017/04/01 - 2019/09/30	"Understanding how membrane etherphospholipids regulate neuron development and function to mediate neuropathophysiology of RCDP" AFM/21018 €114760 Principal investigator	The French Muscular Dystrophy Association (AFM) Concluded
2016/02/01 - 2019/04/01	Translating Peroxisome Biogenesis Disorders: Identifying Pharmacological Therapies and Clinical Trial Endpoints ERA-NET-E-Rare3/0001/2015 €124968 Principal investigator	Fundação para a Ciência e a Tecnologia Ongoing
2016/02/01 - 2019/03/31	Identificação de terapias farmacológicas para doenças da biogénese dos peroxissomas. E-Rare3/0001/2015 Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2016/01/01 - 2018/12/31	COMBINE - combinatorial regenerative strategy to potentiate axon regeneration and improve functional recovery after spinal cord injury MC-1068-2015 Team member Instituto Nacional de Engenharia Biomédica, Portugal	Santa Casa da Misericórdia de Lisboa Concluded
2015/02/01 - 2016/01/31	Establishing the role and function of plasmalogens in neurons and neuron-muscle synapses¿ AFM/18815 €50000 Principal investigator	The French Muscular Dystrophy Association (AFM)
2011/04/01 - 2014/03/31	"Developing, characterizing and rescuing animal models of leukodystrophies: role of plasmalogen in mitigating oxidative stress" ELA/042c5 €328192 Principal investigator	Association Européenne contre les Leucodystrophies Concluded
2011/01/01 - 2013/12/31	"Consequences and mechanisms behind plasmalogen deficiency" PTDC/SAUORG/ 112406/2009 €165000 Principal investigator	Fundação para a Ciência e a Tecnologia Concluded
2008/12/01 - 2010/11/30	"Roles of plasmalogen in myelin structure and stability, and in preventing oxidative damage" ELA/009c4 €207416 Principal investigator	Association Européenne contre les Leucodystrophies Concluded

Outputs

Publications

Book	Van Den Brink, D.M.; Brites, P.; Haasjes, J.; Wierzbicki, A.S.; Mitchell, J.; Lambert-Hamill, M.; De Belleroche, J.; et al. Identification of PEX7 as the second gene involved in Refsum disease. Springer. 2003. Jorge, P.; Brites, P.; Nogueira, A.; Aubourg, P.. Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient with detectable ALD protein. 1996. 10.1111/j.1749-6632.1996.tb18692.x
Conference abstract	Sousa, Sara Castro; Aroso, Miguel; 5E1D-7E42-BBAD; Veríssimo, Eduardo; Brites, Pedro; Aguiar, Paulo; Sousa, Monica M; Lopes, CDF. "Tension-driven axon elongation triggers cytoskeleton and membrane remodelling". Paper presented in IUBMB-EMBO Focused Meeting On Emerging Concepts Of The Neuronal Cytoskeleton (6th Edition), Santa Cruz, 2023. Rodrigues, Inês V.; Ferreira, Pedro M.; Malheiro, Ana R.; Brites, Pedro; Pereira, Eduardo Marques; Oliveira, Hélder P.. "A Directional Gradient for Morphometry of Sciatic Nerve Images". Paper presented in 6th Workshop on Biomedical Engineering, Lisboa, 2014. Published
Conference paper	Rodrigues, I.V.; Ferreira, P.M.; Malheiro, A.R.; Brites, P.; Pereira, E.M.; Oliveira, H.P.. "Morphometric analysis of sciatic nerve images: A directional gradient approach". 2014. 10.1109/BIBM.2014.6999165
Conference poster	Correia, Bárbara; Zortéa, Jaqueline ; Brites, Pedro. "Synaptic transmission is affected by the lack of plasmalogens". Paper presented in Synaptic Transmission Gordon Research Conference, 2022. Correia, Bárbara; Brites, Pedro. "Plasmalogens and their role in synaptogenesis and synaptic transmission". Paper presented in 14th Göttingen Virtual Meeting of the German Neuroscience Society, 2021. Correia, Bárbara; Malheiro, Ana R.; Ferreira da Silva, Tiago; Bessa-Neto, Diogo; Van Veldhoven, Paul P.; Brites, Pedro. "Ether-phospholipids are required for oligodendrocyte maturation and their intrinsic capacity to assemble myelin". Paper presented in XIV European Meeting on Glial Cells in Health and Disease, 2019. Malheiro, Ana R.; Ferreira da Silva, Tiago; Correia, Bárbara; Brites, Pedro. "Plasmalogens regulate oligodendrocyte maturation and myelination". Paper presented in XIII European Meeting on Glial Cells in Health and Disease, 2017. Malheiro, Ana R.; Ferreira da Silva, Tiago; Correia, Bárbara; Brites, Pedro. "The (ether) link between phospholipids and myelination in the CNS". Paper presented in 4th symposium on Current Topics in Myelin Research, 2017.
Journal article	Granadeiro, Luis; Zarralanga, Violeta Enríquez; Rosa, Ricardo; Franquinho, Filipa; Lamas, Sofia; Brites, Pedro. "Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy". Brain 147 4 (2024): 1457-1473. http://dx.doi.org/10.1093/brain/awad407. Published • 10.1093/brain/awad407 Braz, Sandra O.; Morgado, Marlene M.; Pereira, Marta I.; Ana C. Monteiro; Golonzhka, Olga; Jarpe, Matthew; Brites, Pedro; Sousa, Monica M.; Nogueira-Rodrigues, Joana. "HDAC-6 inhibition ameliorates the early neuropathology in a mouse model of Krabbe disease". Frontiers in Molecular Neuroscience 16 (2023): http://dx.doi.org/10.3389/fnmol.2023.1231659. 10.3389/fnmol.2023.1231659 Pedro Brites; Sousa MM. "Neurons contribute to pathology in a mouse model of Krabbe disease in a cell-autonomous manner". PLOS Biology 20 7 (2022): e3001706-e3001706. http://dx.doi.org/10.1371/journal.pbio.3001706. 10.1371/journal.pbio.3001706 Qi, C.; Feng, I.; Costa, A.R.; Pinto-Costa, R.; Neil, J.E.; Caluseriu, O.; Li, D.; et al. "Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans". Genetics in Medicine 24 2 (2022): 319-331. http://www.scopus.com/inward/record.url?eid=2-s2.0-85123344009&partnerID=MN8TOARS. 10.1016/j.gim.2021.09.014 Tiago Ferreira da Silva; Luís S. Granadeiro; Diogo Bessa-Neto; Liliana L. Luz; Boris V. Safronov; Pedro Brites. "Plasmalogens regulate the AKT-ULK1 signaling pathway to control the position of the axon initial segment". Progress in Neurobiology 205 (2021): 102123-102123. https://doi.org/10.1016/j.pneurobio.2021.102123. 10.1016/j.pneurobio.2021.102123 Qi, C; Feng, I.; Costa, A.R.; Pinto-Costa, R.; Neil, J.E.; Caluseriu, O.; Ganetzky, R.D.; et al. Corresponding author: Sousa, M.M.. "Variants in ADD1 Cause Intellectual Disability, Corpus Callosum Dysgenesis, and Ventriculomegaly in Humans". Genetics in Medicine (2021): Qi, Cai and Feng, Irena and Costa, Ana Rita and Pinto-Costa, Rita and Neil, Jennifer and Caluseriu, Oana and Bupp, Caleb and Brasch Andersen, Charlotte and Fagerberg, Christina and Ruan, Xiangbin and Kang, Bowei and Hu, Kaining and Zhong, Rong and Brites. In press Pinto-Costa, Rita; Castro Sousa, Sara; Leite, Sérgio C.; Nogueira-Rodrigues, Joana; Ferreira da Silva, Tiago; Machado, Diana; Marques, Joana Beatriz Moreira; et al. "Profilin1 delivery tunes cytoskeleton dynamics towards CNS axon regeneration". Journal of Clinical Investigation 130 4 (2020): 2024-2040. http://dx.doi.org/10.1172/jci125771. Published • 10.1172/jci125771 Malheiro, Ana R.; Correia, Barbara; Ferreira da Silva, Tiago; Bessa-Neto, Diogo; Van Veldhoven, Paul P.; Brites, Pedro. "Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment". Brain Pathology 29 5 (2019): 622-639. http://dx.doi.org/10.1111/bpa.12710. Published • 10.1111/bpa.12710 De Munter, Stephanie; Bamps, Dorien; Malheiro, Ana Rita; Kumar Baboota, Ritesh; Brites, Pedro; Baes, Myriam. "Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency". Brain Pathology 28 5 (2018): 631-643. http://dx.doi.org/10.1111/bpa.12586. 10.1111/bpa.12586 Shinde, A.B.; Baboota, R.K.; Denis, S.; Loizides-Mangold, U.; Peeters, A.; Espeel, M.; Malheiro, A.R.; et al. "Mitochondrial disruption in peroxisome deficient cells is hepatocyte selective but is not mediated by common hepatic peroxisomal metabolites". Mitochondrion (2017): http://www.scopus.com/inward/record.url?eid=2-s2.0-85029209217&partnerID=MN8TOARS. 10.1016/j.mito.2017.08.013 Franquinho, F.; Nogueira-Rodrigues, J.; Duarte, J.M.; Esteves, S.S.; Carter-Su, C.; Monaco, A.P.; Molnár, Z.; et al. "The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling". Cerebral cortex (New York, N.Y. : 1991) 27 3 (2017): 1732-1747. http://www.scopus.com/inward/record.url?eid=2-s2.0-85021858395&partnerID=MN8TOARS. 10.1093/cercor/bhx023 Mar, F.M.; da Silva, T.F.; Morgado, M.M.; Rodrigues, L.G.; Rodrigues, D.; Pereira, M.I.L.; Marques, A.; et al. "Myelin Lipids Inhibit Axon Regeneration Following Spinal Cord Injury: a Novel Perspective for Therapy". Molecular Neurobiology 53 2 (2016): 1052-1064. http://www.scopus.com/inward/record.url?eid=2-s2.0-84958225895&partnerID=MN8TOARS. 10.1007/s12035-014-9072-3 De Munter, S.; Verheijden, S.; Vanderstuyft, E.; Malheiro, A.R.; Brites, P.; Gall, D.; Schiffmann, S.N.; Baes, M.. "Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency". Neurobiology of Disease 94 (2016): 157-168. http://www.scopus.com/inward/record.url?eid=2-s2.0-84976872223&partnerID=MN8TOARS. 10.1016/j.nbd.2016.06.012 Nogueira-Rodrigues, J.; Brites, P.; Sousa, M.M.. "Axonal pathology in Krabbe's disease: The cytoskeleton as an emerging therapeutic target". Journal of Neuroscience Research 94 11 (2016): 1037-1041. http://www.scopus.com/inward/record.url?eid=2-s2.0-84990185948&partnerID=MN8TOARS. 10.1002/jnr.23771 Leite, S.C.; Sampaio, P.; Sousa, V.F.; Nogueira-Rodrigues, J.; Pinto-Costa, R.; Peters, L.L.; Brites, P.; Sousa, M.M.. "The Actin-Binding Protein a-Adducin Is Required for Maintaining Axon Diameter". Cell Reports 15 3 (2016): 490-498. http://www.scopus.com/inward/record.url?eid=2-s2.0-84962762309&partnerID=MN8TOARS. 10.1016/j.celrep.2016.03.047 Luoma, A.M.; Kuo, F.; Cakici, O.; Crowther, M.N.; Denninger, A.R.; Avila, R.L.; Brites, P.; Kirschner, D.A.. "Plasmalogen phospholipids protect internodal myelin from oxidative damage". Free Radical Biology and Medicine 84 (2015): 296-310. http://www.scopus.com/inward/record.url?eid=2-s2.0-84929162848&partnerID=MN8TOARS. 10.1016/j.freeradbiomed.2015.03.012 Rocha, D.N.; Brites, P.; Fonseca, C.; Pêgo, A.P.. "Poly(trimethylene carbonate-co-e-caprolactone) promotes axonal growth". PLoS ONE 9 2 (2014): http://www.scopus.com/inward/record.url?eid=2-s2.0-84896121626&partnerID=MN8TOARS. 10.1371/journal.pone.0088593 Teixeira, C.A.; Miranda, C.O.; Sousa, V.F.; Santos, T.E.; Malheiro, A.R.; Solomon, M.; Maegawa, G.H.; Brites, P.; Sousa, M.M.. "Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease". Neurobiology of Disease 66 (2014): 92-103. http://www.scopus.com/inward/record.url?eid=2-s2.0-84896968554&partnerID=MN8TOARS. 10.1016/j.nbd.2014.02.012 Rodrigues, T.A.; Alencastre, I.S.; Francisco, T.; Brites, P.; Fransen, M.; Grou, C.P.; Azevedo, J.E.. "A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway". Molecular and Cellular Biology 34 15 (2014): 2917-2928. http://www.scopus.com/inward/record.url?eid=2-s2.0-84904312911&partnerID=MN8TOARS. 10.1128/MCB.01727-13 Malheiro, A.R.; da Silva, T.F.; Brites, P.. "Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome". Journal of Inherited Metabolic Disease 38 1 (2014): 111-121. http://www.scopus.com/inward/record.url?eid=2-s2.0-84922105118&partnerID=MN8TOARS. 10.1007/s10545-014-9795-3 Da Silva, T.F.; Eira, J.; Lopes, A.T.; Malheiro, A.R.; Sousa, V.; Luoma, A.; Avila, R.L.; et al. "Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination". Journal of Clinical Investigation 124 6 (2014): 2560-2570. http://www.scopus.com/inward/record.url?eid=2-s2.0-84902172153&partnerID=MN8TOARS. 10.1172/JCI72063 Miranda, C.O.; Brites, P.; Sousa, M.M.; Teixeira, C.A.. "Advances and pitfalls of cell therapy in metabolic leukodystrophies". Cell Transplantation 22 2 (2013): 189-204. http://www.scopus.com/inward/record.url?eid=2-s2.0-84874371497&partnerID=MN8TOARS. 10.3727/096368912X656117 Wiese, S.; Gronemeyer, T.; Brites, P.; Ofman, R.; Bunse, C.; Renz, C.; Meyer, H.E.; Wanders, R.J.A.; Warscheid, B.. "Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry". International Journal of Mass Spectrometry 312 (2012): 30-40. http://www.scopus.com/inward/record.url?eid=2-s2.0-84857056323&partnerID=MN8TOARS. 10.1016/j.ijms.2011.09.005 Da Silva, T.F.; Sousa, V.F.; Malheiro, A.R.; Brites, P.. "The importance of ether-phospholipids: A view from the perspective of mouse models". Biochimica et Biophysica Acta - Molecular Basis of Disease 1822 9 (2012): 1501-1508. http://www.scopus.com/inward/record.url?eid=2-s2.0-84864039497&partnerID=MN8TOARS. 10.1016/j.bbadis.2012.05.014 Brites, P.; Ferreira, A.S.; da Silva, T.F.; Sousa, V.F.; Malheiro, A.R.; Duran, M.; Waterham, H.R.; Baes, M.; Wanders, R.J.A.. "Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice". PLoS ONE 6 12 (2011): http://www.scopus.com/inward/record.url?eid=2-s2.0-82755170548&partnerID=MN8TOARS. 10.1371/journal.pone.0028539 Wanders, R.J.; Brites, P.. "Biosynthesis of ether-phospholipids including plasmalogens, peroxisomes and human disease: New insights into an old problem". Clinical Lipidology 5 3 (2010): 379-386. http://www.scopus.com/inward/record.url?eid=2-s2.0-77953817755&partnerID=MN8TOARS. 10.2217/clp.10.16 Wanders, R.J.A.; Ferdinandusse, S.; Brites, P.; Kemp, S.. "Peroxisomes, lipid metabolism and lipotoxicity". Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids 1801 3 (2010): 272-280. http://www.scopus.com/inward/record.url?eid=2-s2.0-76349092667&partnerID=MN8TOARS. 10.1016/j.bbalip.2010.01.001 Brites, P.; Mooyer, P.A.W.; El Mrabet, L.; Waterham, H.R.; Wanders, R.J.A.. "Plasmalogens participate in very-long-chain fatty acid-induced pathology". Brain 132 2 (2009): 482-492. http://www.scopus.com/inward/record.url?eid=2-s2.0-60149094802&partnerID=MN8TOARS. 10.1093/brain/awn295 Cuperus R; Tytgat GA; Leen R; Brites P; Bras J; Caron HN; Van Kuilenburg AB. "Pleiotropic effects of fenretinide in neuroblastoma cell lines and multicellular tumor spheroids.". (2008): http://europepmc.org/abstract/med/18425327. Ferdinandusse, S.; Zomer, A.W.M.; Komen, J.C.; Van Den Brink, C.E.; Thanos, M.; Hamers, F.P.T.; Wanders, R.J.A.; et al. "Ataxia with loss of Purkinje cells in a mouse model for Refsum disease". Proceedings of the National Academy of Sciences of the United States of America 105 46 (2008): 17712-17717. http://www.scopus.com/inward/record.url?eid=2-s2.0-56649124783&partnerID=MN8TOARS. 10.1073/pnas.0806066105 Willemsen, A.M.; Jansen, G.A.; Komen, J.C.; van Hooff, S.; Waterham, H.R.; Brites, P.M.T.; Wanders, R.J.A.; van Kampen, A.H.C.. "Organization and integration of biomedical knowledge with concept maps for key peroxisomal pathways". Bioinformatics 24 16 (2008): http://www.scopus.com/inward/record.url?eid=2-s2.0-49549117583&partnerID=MN8TOARS. 10.1093/bioinformatics/btn274 Cuperus, R.; Tytgat, G.A.M.; Leen, R.; Brites, P.; Bras, J.; Caron, H.N.; Van Kuilenburg, A.B.P.. "Pleiotropic effects of fenretinide in neuroblastoma cell lines and multicellular tumor spheroids". International Journal of Oncology 32 5 (2008): 1011-1019. http://www.scopus.com/inward/record.url?eid=2-s2.0-45849090770&partnerID=MN8TOARS. Brites, P.; Wanders, R.J.A.; Waterham, H.R.. "The mouse as a model to understand peroxisomal biogenesis and its disorders". Drug Discovery Today: Disease Models 1 3 (2004): 193-198. http://www.scopus.com/inward/record.url?eid=2-s2.0-23644444134&partnerID=MN8TOARS. 10.1016/j.ddmod.2004.09.003 Brites, P.; Waterham, H.R.; Wanders, R.J.A.. "Functions and biosynthesis of plasmalogens in health and disease". Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids 1636 2-3 (2004): 219-231. http://www.scopus.com/inward/record.url?eid=2-s2.0-2942633430&partnerID=MN8TOARS. 10.1016/j.bbalip.2003.12.010 Brites, P.; Motley, A.M.; Gressens, P.; Mooyer, P.A.W.; Ploegaert, I.; Everts, V.; Evrard, P.; et al. "Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: A model for rhizomelic chondrodysplasia punctata". Human Molecular Genetics 12 18 (2003): 2255-2267. http://www.scopus.com/inward/record.url?eid=2-s2.0-10744225661&partnerID=MN8TOARS. 10.1093/hmg/ddg236 Van Den Brink, D.M.; Brites, P.; Haasjes, J.; Wierzbicki, A.S.; Mitchell, J.; Lambert-Hamill, M.; De Belleroche, J.; et al. "Identification of PEX7 as the second gene involved in Refsum disease". American Journal of Human Genetics 72 2 (2003): 471-477. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037318856&partnerID=MN8TOARS. 10.1086/346093 Motley, A.M.; Brites, P.; Gerez, L.; Hogenhout, E.; Haasjes, J.; Benne, R.; Tabak, H.F.; Wanders, R.J.A.; Waterham, H.R.. "Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1". American Journal of Human Genetics 70 3 (2002): 612-624. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036178209&partnerID=MN8TOARS. 10.1086/338998 Brites, P.; Motley, A.; Hogenhout, E.; Hettema, E.; Wijburg, F.; Heijmans, H.S.A.; Tabak, H.F.; Distel, B.; Wanders, R.J.A.. "Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 Stop mutation in 38 patients". Journal of Inherited Metabolic Disease 21 3 (1998): 306-308. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031902698&partnerID=MN8TOARS. 10.1023/A:1005301112923 Motley, A.M.; Hettema, E.H.; Hogenhout, E.M.; Brites, P.; Ten Asbroek, A.L.M.A.; Wijburg, F.A.; Baas, F.; et al. "Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor". Nature Genetics 15 4 (1997): 377-380. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031003680&partnerID=MN8TOARS. 10.1038/ng0497-377
Thesis / Dissertation	Brites, Pedro. "The mouse as a model to understand peroxisomal disorders". PhD, 2009. http://hdl.handle.net/11245/1.323178.

Other

Other output

Variants in ADD1 Cause Intellectual Disability, Corpus Callosum Dysgenesis, and Ventriculomegaly in Humans. 2021. Qi, C.; Feng, I.; Costa, A.R.; Pinto-Costa, R.; Neil, J.E.; Caluseriu, O.; Bupp, C.; et al. http://www.scopus.com/inward/record.url?eid=2-s2.0-85117069952&partnerID=MN8TOARS.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2018/06/01	Mouse models for rhizomelic chondrodysplasia punctata	GFPD Scientific Conference The Global Foundation for Peroxisomal Disorders (Washington, United States)
2018/02/16	Phospholipid matters in the regulation of neuron and glial function	Center for Neuroscience and Cell Biology (CNC) Seminar Program University of Coimbra - Center for Neuroscience and Cell Biology (Coimbra, Portugal)
2017/09/05	Etherphospholipids and inborn errors of metabolism	13th International congress of Inborn Errors of Metabolism Society for the Study of Inborn Errors of Metabolism - SSIEM (Rio de Janeiro, Brazil)
2017/07/13	Plasmalogen replacement therapies	The development of Targeted therapies for peroxisome biogenesis disorders The Global Foundation for Peroxisomal Disorders (Washington, United States)
2014/02/07	The role of plasmalogens in the nervous system	Workshop on “Peroxisomes and Mitochondria: Players in Cellular Metabolism Portuguese Biochemistry Scociety (Portugal)
2013/06/14	Plasmalogens, ether-phospholipids and fatty alcohol synthesis	Workshop on “Diagnostic approach, and classification of IEM affecting the synthesis and catabolism of complex lipids Recordati Rare Diseases Inc. (Paris, France)
2013/05/30	Ether-phospholipid functions on Schwann cell differentiation and myelination	XIII meeting of the Portuguese Society for Neuroscience Portuguese Society for Neuroscience (Luso, Portugal)
2010/03/28	Refsum disease	2010 European Leukodystrophy Association (ELA) conference European Leukodystrophy Association (ELA) (Paris, France)
2007/03/30	Biochemistry, genetics and pathology of Refsum disease	Pro Retina Research Colloquium PRO RETINA Germany (Potsdam, Germany)
2006/09/18	The contribution of mouse models to the understanding of human peroxisomal disorders	Open European Peroxisome Meeting Katholieke Universiteit Leuven (Leuven, Belgium)

Supervision

	Thesis Title Role	Degree Subject (Type) Institution / Organization
2024/01/01 - Current	Understand the impact of impaired S-acylation in neuron biology through the characterization of the Zdhhc14 knockout mouse Supervisor
2022/04/15 - Current	Determine the impact of Slc44a1 deficiency in central nervous system myelination Supervisor
2022/02/18 - Current	Understand how ether-phospholipids dysregulate the synaptogenesis process Supervisor
2021/10/01 - Current	Unraveling the impact of very-long-chain fatty acids on neuron pathology Supervisor
2018/11/01 - Current	Understanding how ACBD5 mediates lipid dysregulation and neuropathology Supervisor	Molecular and Cell Biology (PhD) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2020/09/28 - 2021/11/29	Understand how ether-phospholipids dysregulate neuron processes Supervisor
2018/08/01 - 2020/02/07	Unraveling the role of the fatty acid hydroxylase Faxdc2 in nervous tissue Supervisor	Molecular and Cellular Biology (Master) Universidade do Porto Faculdade de Ciências, Portugal
2018/08/01 - 2019/12/11	Unravel the functions of Acbd5 through the generation and characterization of mouse mutants Supervisor	Applied Biochemistry (Master) Universidade do Minho, Portugal
2013/09/01 - 2019/07/16	"Unraveling the function of ether-phospholipids in CNS and their role in neurodegeneration" Supervisor	Molecular and Cell Biology (PhD) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2013/02/01 - 2017/11/30	"Characterization of plasmalogen´s role during nervous system and muscle development" Supervisor	Biomedical Sciences (PhD) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2016/09/01 - 2017/07/15	“Determining how membrane phospholipids regulate CNS myelination and myelin composition” Supervisor	Molecular and Cellular Biology (Master) Universidade de Aveiro, Portugal
2017/01/01 - 2017/02/01	Characterization of the mechanism mediating the relocation of the axon initial segment Supervisor	Medicina (Degree) Universidade de Coimbra Faculdade de Medicina, Portugal
2014/10/01 - 2015/07/27	Characterization of a plasmalogen deficiency in microtubule cytoskleleton dynamics Supervisor	Bioquímica (Degree) Universidade do Porto Faculdade de Ciências, Portugal
2011/04/01 - 2012/12/15	"Morphometric analysis of central and peripheral nervous tissues in mice with defects in the biosynthesis of ether-phospholipids” Supervisor	Molecular Therapies (Master) Instituto Universitário de Ciências da Saúde, Portugal
2011/09/01 - 2012/11/15	“Determination of the role of plasmalogens in nervous tissue and assessment of therapeutic approaches” Supervisor	Biochemistry (Master) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010/09/01 - 2011/10/15	“Determination of the role of plasmalogens in regeneration and during myelination” Supervisor	Biochemistry (Master) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2009/09/01 - 2010/10/31	“Peroxisome assessment in the peripheral nervous system and the characterization of plasmalogen’s role during muscle development” Supervisor	Biochemistry (Master) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Event organisation

	Event name Type of event (Role)	Institution / Organization
2016/05/16 - Current	Seminar series of the Neurobiology and Neurologic Disorders Integrative Program at i3S (2016/05/12) Seminar (Co-organisor)
2023/08/02 - 2023/08/04	15th Biennial ISN Satellite Meeting on MYELIN BIOLOGY (2023/08/02 - 2023/08/04) Symposium (Co-organisor)	International Society for Neurochemistry, Switzerland
2019/07/10 - 2019/07/13	XIV European Meeting on Glial Cells in Health and Disease. (2019/07/10) Congress (Member of the Scientific Committee)
2018/11/29 - 2018/11/30	i3S Annual Meeting (2018/11/29 - 2018/11/30) Meeting (Co-organisor)
2018/09/20 - 2018/09/20	1st Retreat of the Neurobiology and Neurologic Disorders Integrative Program of i3S (2018/09/20 - 2018/09/20) Meeting (Co-organisor)
2014/10/30 - 2014/10/31	i3S Annual Meeting (2014/10/30 - 2014/10/31) Meeting (Co-organisor)

Jury of academic degree

	Topic Role	Candidate name (Type of degree) Institution / Organization
2021/11/30	Understand how ether-phospholipids dysregulate neuron processes Supervisor	Jaqueline Evelin Zortéa (Master)
2021/10/04	Characterization of neuronal network dynamics on microelectrode arrays: assessing the effect of temperature and the activity profile of long-term recordings; (Thesis) Main arguer	João Tiago dos Santos Palma (Master)
2020/12/14	Characterization of Prrxl1-S119A phospho-defective mouse: Impact on the development of nociceptive neurons (Thesis) Main arguer	Francisco Tomás Ribeiro (Master) Universidade do Porto Faculdade de Medicina, Portugal
2018/07/27	Stargazin as a regulator of neuronal excitability (Thesis) Main arguer	Marina Rodrigues (PhD) Universidade de Coimbra Instituto de Investigação Interdisciplinar, Portugal
2017/07/15	Determining how membrane phospholipids regulate CNS myelination and myelin composition Supervisor	Barbara Gonçalves Correia (Master) Universidade de Aveiro, Portugal
2012/12/06	Morphometric analysis of central and peripheral nervous tissues in mice with defects in the biosynthesis of ether-phospholipids Supervisor	Ana Rita Malheiro (Master) Instituto Universitário de Ciências da Saúde, Portugal
2012/11/15	Determination of the role of plasmalogens in nervous tissue and assessment of therapeutic approaches Supervisor	Jessica Faria da Eira (Master) Universidade do Porto Faculdade de Ciências, Portugal
2012/01/25	The role of peroxisomes in the formation and maintenance of myelinated axons (Thesis) Main arguer	Astrid Bottelbergs (PhD) Katholieke Universiteit Leuven, Belgium
2011/10/10	Determination of the role of plasmalogens in regeneration and during myelination Supervisor	André Teixeira Lopes (Master) Universidade do Porto Faculdade de Ciências, Portugal
2010/09/15	Peroxisome assessment in the peripheral nervous system and the characterization of plasmalogen’s role during muscle development Supervisor	Tiago Ferreira da Silva (Master) Universidade do Porto Faculdade de Ciências, Portugal

Consulting

	Activity description	Institution / Organization
2023 - Current	Reviewer for the French National Research Agency (ANR)	Agence nationale de la recherche, France
2021/03/01 - Current	Reviewer for the National Science Center Poland (NCN)	Narodowe Centrum Nauki, Poland
2019/01/01 - Current	External expert of Marie Sklodowska-Curie Actions Innovative Training Networks	Research Executive Agency, Belgium European Commission, Belgium
2018/11/12 - Current	External expert of H2020-WIDESPREAD actions	Research Executive Agency, Belgium European Commission, Belgium
2016/10/01 - Current	Vice-Chair of Life Sciences Panel of Horizon 2020 Marie Sklodowska-Curie Actions	Research Executive Agency, Belgium European Commission, Belgium
2013/11/08 - Current	External expert of SPDM-Genzyme-Sanofi fellowships and grants	Sociedade Portuguesa de Doenças Metabólicas, Portugal

Course / Discipline taught

	Academic session	Degree Subject (Type)	Institution / Organization
2011/04/10 - Current	PhD and MSC Program in Neuroscience	Nerve regeneration - role of lipids in axon regeneration and myelination (Doutoramento)	Universidade do Porto Faculdade de Medicina, Portugal
2010/05/03 - Current	Graduate Program in Areas of Basic and Applied Biology (GABBA)	Nerve regeneration - role of lipids in axon regeneration and myelination (Doutoramento)	Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018/09/10 - 2018/09/21	Laboratory Animal Science Course	Laboratory Animal Genetics (Outros)	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2010/10/18 - 2010/10/22	the Harvard Medical School-Portugal Postgraduate Medical Education	Animal models of PNS and CNS injury (Doutoramento)

Mentoring / Tutoring

	Topic	Student name
2017/12/01 - Current	Postdoc supervision	Tiago Silva
2017/01/01 - Current	Postdoc supervision	Filipa Sofia Franquinho
2018/04/01 - 2019/09/30	Supervision of Research Technicians	Barbara Gonçalves Correia
2017/06/01 - 2018/10/31	Supervision of Research Technicians	Luis Granadeiro
2017/06/01 - 2018/01/31	Supervision of Research Technicians	João Magalhães
2015/03/15 - 2017/07/31	Supervision of Research Technicians	Digo Neto
2013/10/01 - 2014/04/30	Postdoc supervision	Lorena Rodrigues
2013/01/01 - 2013/12/31	Supervision of Research Technicians	Marta Jordão
2011/04/01 - 2013/08/31	Supervision of Research Technicians	Ana Rita Malheiro

Distinctions

Other distinction

2020	CEEC-IND award Fundação para a Ciência e a Tecnologia, Portugal
2013	FCT Investigator award Fundação para a Ciência e a Tecnologia, Portugal
2011	Postdoc fellowship European Leukodystrophy Association, France
2009	Postdoc fellowship Fundação para a Ciência e a Tecnologia, Portugal