Neurodevelopmental disorders: 2023 update

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  • dc.contributor.author Carriba, Paulina
  • dc.contributor.author Lorenzon, Nicola
  • dc.contributor.author Dierssen, Mara
  • dc.date.accessioned 2023-06-22T07:21:13Z
  • dc.date.available 2023-06-22T07:21:13Z
  • dc.date.issued 2023
  • dc.description.abstract Several advances in the field of neurodevelopmental diseases (NDDs) have been reported by 2022. Of course, NDDs comprise a diverse group of disorders, most of which with different aetiologies. However, owing to the development and consolidation of technological approaches, such as proteomics and RNA-sequencing, and to the improvement of brain organoids along with the introduction of artificial intelligence (AI) for biodata analysis, in 2022 new aetiological mechanisms for some NDDs have been proposed. Here, we present hints of some of these findings. For instance, centrioles regulate neuronal migration and could be behind the aetiology of periventricular heterotopia; also, the accumulation of misfolded proteins could explain the neurological effects in COVID-19 patients; and, autism spectrum disorders (ASD) could be the expression of altered cortical arealization. We also cover other interesting aspects as the description of a new NDD characterized by deregulation of genes involved in stress granule (SG) assemblies, or the description of a newly discovered neural progenitor that explains the different phenotypes of tumours and cortical tubers in tuberous sclerosis complex (TSC) disease; and how it is possible to decipher the aetiology of sudden unexplained death in childhood (SUDC) or improve the diagnosis of cortical malformations using formalin-fixed paraffin-embedded samples.
  • dc.description.sponsorship The lab of M.D. is supported by the Departament d'Universitats, Recerca i Societat de la Informació de la Generalitat de Catalunya (Grups consolidats 2022), the Agencia Estatal de Investigación (PID2019-110755RB-I00/AEI/10.13039/501100011033), the European Union’s Horizon 2020 research and innovation programme under grant agreements nº 848077 (GO-DS21) and under grant agreement nº 899986 (ICOD). Horizon Europe (Horizon-Hlth-2021-StayHlth-01-Psych-STRATA). This reflects only the author's view, and the European Commission is not responsible for any use that may be made of the information it contains. Jerôme Lejeune Foundation (Grant number 2002), NIH (Grant Number: 1R01EB 028159-01), Marató TV3 (#2022-12-30-31-32). The CRG acknowledges the support of the Spanish Ministry of Science and Innovation to the EMBL partnership, the Centro de Excelencia Severo Ochoa, and the CERCA Programme/Generalitat de Catalunya. The CIBER of Rare Diseases (CIBERER) is an initiative of ISCIII.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Carriba P, Lorenzón N, Dierssen M. Neurodevelopmental disorders: 2023 update. Free Neuropathology. 2023;4(8). DOI: 10.17879/freeneuropathology-2023-4701
  • dc.identifier.doi http://dx.doi.org/10.17879/freeneuropathology-2023-4701
  • dc.identifier.issn 2699-4445
  • dc.identifier.uri http://hdl.handle.net/10230/57291
  • dc.language.iso eng
  • dc.publisher University of Münster
  • dc.relation.ispartof Free Neuropathology. 2023;4(8)
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/848077
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PID2019-110755RB-I00
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/899986
  • dc.rights © 2023 The author(s). This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/),which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited, a link to the Creative Commons license is provided, and any changes are indicated. The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Centrosomes
  • dc.subject.keyword CLIP: Caudal late interneuron progenito
  • dc.subject.keyword Human organoids
  • dc.subject.keyword MCD: malformations of cortical development
  • dc.subject.keyword Stress granules
  • dc.subject.keyword SUDC: Sudden unexplained death in childhood
  • dc.title Neurodevelopmental disorders: 2023 update
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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