{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T09:48:45Z","timestamp":1761299325024,"version":"build-2065373602"},"reference-count":0,"publisher":"Bentham Science Publishers Ltd.","issue":"16","content-domain":{"domain":["eurekaselect.com"],"crossmark-restriction":true},"short-container-title":["EMIDDT"],"published-print":{"date-parts":[[2024,7,11]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction::<\/jats:title>\n                    <jats:p>When it comes to disease modeling, countless models are available for\nLysosomal Storage Diseases (LSD). Historically, two major approaches are well-established: in\nvitro assessments are performed in patient fibroblasts, while in vivo pre-clinical studies are performed\nin mouse models. Still, both platforms have a series of drawbacks. Thus, we implemented\ntwo alternative and innovative protocols<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods::<\/jats:title>\n                    <jats:p>The first one relies on a non-invasive approach using dental pulp stem cells from deciduous\nteeth (SHEDs). SHEDs are multipotent neuronal precursors that can easily be collected.\nThe second uses a state-of-the-art gene editing technology (CRISPR\/Cas9) to generate zebrafish\ndisease models.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results::<\/jats:title>\n                    <jats:p>Even though this is an ongoing project, we have already established and characterized\ntwo MPS II and one MPS VI SHED cell models. These cells self-maintain through several passages\nand can give rise to a variety of cells including neurons. Furthermore, all MPS-associated\nsub-cellular phenotypes we have assessed so far are easily observable in these cells. Regarding\nour zebrafish models, we have successfully knocked down both naglu and hgsnat and the first\nresults we got from the behavioral analysis are promising ones, as we can observe altered activity\nand sleep patterns in the genetically modified fish. For this particular approach we chose MPS III\nforms as our target disorders, since their neurological features (hyperactivity, seizures and motor\nimpairment) and lifespan decrease would be easily recognizable in zebrafish.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion::<\/jats:title>\n                    <jats:p>Now that these methods are well-established in our lab, their potential is immense.\nOn one hand, the newly developed models will be of ultimate value to understand the mechanisms\nunderlying MPS sub-cellular pathology, which have to be further elucidated. On the other\nhand, they will constitute an optimal platform for drug testing in house. Also noteworthy, our\nmodels will be published as lab resources and made available for the whole LSD community.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2174\/0118715303277318231024055425","type":"journal-article","created":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T01:35:56Z","timestamp":1699580156000},"page":"11-11","update-policy":"https:\/\/doi.org\/10.2174\/bsp_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses"],"prefix":"10.2174","volume":"24","author":[{"given":"Sofia","family":"Carvalho","sequence":"first","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Faculty of Pharmacy, University of Coimbra"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"}]},{"given":"Luciana","family":"Moreira","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"}]},{"given":"Juliana In\u00eas","family":"Santos","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"},{"name":"Biology department, Faculty of Sciences, University of Porto"}]},{"given":"Paulo","family":"Gaspar","sequence":"additional","affiliation":[{"name":"Newborn Screening,Metabolism and Genetics Unit, Department of Human Genetics, INSA"}]},{"given":"Mariana","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"},{"name":"Inov4Agro, University of Tr\u00e1s-os-Montes andAlto Douro, CITAB, UTAD"}]},{"given":"Liliana","family":"Matos","sequence":"additional","affiliation":[{"name":"University of Porto Center for the Study of Animal Science, CECA-ICETA Porto Portugal"},{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"}]},{"given":"Hugo","family":"David","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"},{"name":"Biology department, Faculty of Sciences, University of Porto"}]},{"given":"Marisa","family":"Encarna\u00e7\u00e3o","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"}]},{"given":"Diogo","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals;"},{"name":"Newborn Screening,Metabolism and Genetics Unit, Department of Human Genetics, INSA"}]},{"given":"Ana Joana","family":"Duarte","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"}]},{"given":"Olga","family":"Amaral","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"}]},{"given":"Hugo","family":"Rocha","sequence":"additional","affiliation":[{"name":"Newborn Screening,Metabolism and Genetics Unit, Department of Human Genetics, INSA"}]},{"given":"Lu\u00edsa","family":"Diogo","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo, CHUC"}]},{"given":"Sara","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo, CHUC"}]},{"given":"Constan\u00e7a","family":"Santos","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo, CHUC"}]},{"given":"Esmeralda","family":"Martins","sequence":"additional","affiliation":[{"name":"Centro HospitalarUniversit\u00e1rio do Porto, Hospital de Santo Ant\u00f3nio, CHUdSA"}]},{"given":"Teresa","family":"Neuparth","sequence":"additional","affiliation":[{"name":"Endocrine Disrupters and Emerging ContaminantsGroup, CIMAR\/CIIMAR, LA - Interdisciplinary Centre of Marine and Environmental Research"}]},{"given":"Joana","family":"Soares","sequence":"additional","affiliation":[{"name":"Endocrine Disrupters and Emerging ContaminantsGroup, CIMAR\/CIIMAR, LA - Interdisciplinary Centre of Marine and Environmental Research"}]},{"given":"Marta","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Endocrine Disrupters and Emerging ContaminantsGroup, CIMAR\/CIIMAR, LA - Interdisciplinary Centre of Marine and Environmental Research"}]},{"given":"Br\u00edgida","family":"Ribeiro Pinho","sequence":"additional","affiliation":[{"name":"Department of DrugSciences, Pharmacology Lab, University of Porto, UCIBIO-REQUIMTE"},{"name":"Department of Drug Sciences, PharmacologyLab, University of Porto i4HB"}]},{"given":"Nuno","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of DrugSciences, Pharmacology Lab, University of Porto, UCIBIO-REQUIMTE"},{"name":"Department of Drug Sciences, PharmacologyLab, University of Porto i4HB"}]},{"given":"Jorge Miguel","family":"Ascen\u00e7\u00e3o Oliveira","sequence":"additional","affiliation":[{"name":"Department of DrugSciences, Pharmacology Lab, University of Porto, UCIBIO-REQUIMTE"},{"name":"Department of Drug Sciences, PharmacologyLab, University of Porto i4HB"}]},{"given":"Maria Jo\u00e3o","family":"Prata","sequence":"additional","affiliation":[{"name":"Biology department, Faculty of Sciences, University of Porto"},{"name":"13i3S \u2013 Health research and innovation institute, University of Porto"}]},{"given":"Miguel","family":"Santos","sequence":"additional","affiliation":[{"name":"Biology department, Faculty of Sciences, University of Porto"},{"name":"Endocrine Disrupters and Emerging ContaminantsGroup, CIMAR\/CIIMAR, LA - Interdisciplinary Centre of Marine and Environmental Research"}]},{"given":"Sandra","family":"Alves","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and VeterinarySciences, AL4 Animals"}]},{"given":"Maria Francisca","family":"Coutinho","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Human Genetics, INSA"},{"name":"Center for the Study of Animal Science, CECA-ICETA, University of Porto"},{"name":"Associate Laboratory for Animal and 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