Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/112195
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Martins, Mariana | - |
dc.contributor.author | Oliveira, Ana Rafaela | - |
dc.contributor.author | Martins, Solange | - |
dc.contributor.author | Vieira, José Pedro | - |
dc.contributor.author | Perdigão, Pedro | - |
dc.contributor.author | Fernandes, Ana Rita | - |
dc.contributor.author | Almeida, Luís Pereira de | - |
dc.contributor.author | Palma, Paulo Jorge | - |
dc.contributor.author | Sequeira, Diana Bela | - |
dc.contributor.author | Santos, João Miguel Marques | - |
dc.contributor.author | Duque, Frederico | - |
dc.contributor.author | Oliveira, Guiomar | - |
dc.contributor.author | Cardoso, Ana Luísa | - |
dc.contributor.author | Peça, João | - |
dc.contributor.author | Seabra, Catarina Morais | - |
dc.date.accessioned | 2024-01-24T10:28:14Z | - |
dc.date.available | 2024-01-24T10:28:14Z | - |
dc.date.issued | 2023-08-09 | - |
dc.identifier.issn | 1422-0067 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/112195 | - |
dc.description.abstract | Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In this study, we describe the clinical history of a 12-year-old child harboring a novel MBD5 rare variant and presenting psychomotor delay and seizures. To investigate the impact of MBD5 haploinsufficiency on neural primary cilia, we established a novel patient-derived cell line and used CRISPR-Cas9 technology to create an isogenic control. The patient-derived neural progenitor cells revealed a decrease in the length of primary cilia and in the total number of ciliated cells. This study paves the way to understanding the impact of MBD5 haploinsufficiency in brain development through its potential impact on neural primary cilia. | pt |
dc.language.iso | eng | pt |
dc.publisher | MDPI | pt |
dc.relation | European Union’s Horizon 2020 Research and Innovation Program under Marie Skłodowska-Curie Actions (Grant Agreement 799164) | pt |
dc.relation | FCT - project BrainCils EXPL/MED-OUT/1470/2021 and project EXPL/MED-NEU/0936/2021 | pt |
dc.relation | University of Coimbra and Santander Universities Program under Interdisciplinary Scientific Research Seed Grants 2021. | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt |
dc.subject | neurodevelopment | pt |
dc.subject | epilepsy | pt |
dc.subject | MBD5 | pt |
dc.subject | neural cell models | pt |
dc.subject | primary cilia | pt |
dc.subject.mesh | Child | pt |
dc.subject.mesh | Humans | pt |
dc.subject.mesh | Cilia | pt |
dc.subject.mesh | Seizures | pt |
dc.subject.mesh | DNA-Binding Proteins | pt |
dc.subject.mesh | Intellectual Disability | pt |
dc.subject.mesh | Epilepsy | pt |
dc.subject.mesh | Neurodevelopmental Disorders | pt |
dc.title | A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia | pt |
dc.type | article | - |
degois.publication.firstPage | 12603 | pt |
degois.publication.issue | 16 | pt |
degois.publication.title | International Journal of Molecular Sciences | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.3390/ijms241612603 | pt |
degois.publication.volume | 24 | pt |
dc.date.embargo | 2023-08-09 | * |
uc.date.periodoEmbargo | 0 | pt |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairetype | article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | Com Texto completo | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.researchunit | CIBB - Center for Innovative Biomedicine and Biotechnology | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0001-5831-3307 | - |
crisitem.author.orcid | 0000-0003-4730-8072 | - |
crisitem.author.orcid | 0000-0002-2865-9689 | - |
crisitem.author.orcid | 0000-0003-4031-3880 | - |
crisitem.author.orcid | 0000-0003-4989-2129 | - |
Appears in Collections: | FCTUC Ciências da Vida - Artigos em Revistas Internacionais FMUC Medicina - Artigos em Revistas Internacionais IIIUC - Artigos em Revistas Internacionais FFUC- Artigos em Revistas Internacionais I&D CNC - Artigos em Revistas Internacionais |
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