dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Aguilera, Cinthia |
dc.contributor.author | Hümmer, Stefan |
dc.contributor.author | Masanas Jimenez, Marc |
dc.contributor.author | Gabau, Elisabeth |
dc.contributor.author | Guitart, Miriam |
dc.contributor.author | Jeyaprakash, A. Arockia |
dc.contributor.author | Segura Ginard, Miguel |
dc.contributor.author | Santamaria Margalef, Anna |
dc.contributor.author | Ruiz, Anna |
dc.date.accessioned | 2021-12-17T11:30:35Z |
dc.date.available | 2021-12-17T11:30:35Z |
dc.date.issued | 2021-05-26 |
dc.identifier.citation | Aguilera C, Hümmer S, Masanas M, Gabau E, Guitart M, Jeyaprakash AA, et al. The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome. Front Neurosci. 2021 May 26;15:618098. |
dc.identifier.issn | 1662-453X |
dc.identifier.uri | https://hdl.handle.net/11351/6709 |
dc.description.sponsorship | This work was supported by the Instituto de Salud Carlos III (Grant No. PI16/01411 to MG and Grant No. CPII18/00027 to AS), the Asociación Española de Síndrome de Angelman, Institut d’investigació i innovació Parc Taulí I3PT (CIR2018/021), the Ministerio de Educación, Cultura y Deporte (Grant No. FPU16/01099 to MM), the Asociación Española Contra el Cáncer (Grant No. LABAE18009SEGU to MS), and the Centro de Investigación Biomédica en Red Cancer - CIBERONC (Grant No. CB16/12/00363 to SH). Finally, AJ was supported by the Wellcome Trust though a Senior Research Fellowship (202811). |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Neuroscience;15 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Malalties - Aspectes moleculars |
dc.subject | Neurobiologia molecular |
dc.subject | Sistema nerviós - Malalties |
dc.subject.mesh | Nervous System Diseases |
dc.subject.mesh | /pathology |
dc.subject.mesh | Models, Molecular |
dc.title | The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fnins.2021.618098 |
dc.subject.decs | enfermedades del sistema nervioso |
dc.subject.decs | /patología |
dc.subject.decs | modelos moleculares |
dc.relation.publishversion | https://doi.org/10.3389/fnins.2021.618098 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Aguilera C, Guitart M, Ruiz A] Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. [Hümmer S] Grup de Patologia Molecular Translacional, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain. [Masanas M, Segura MF] Grup de Recerca Translacional en Càncer en la Infància i l’Adolescència, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Gabau E] Paediatric Unit, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. [Jeyaprakash AA] Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, United Kingdom. [Santamaria A] Laboratori de Càncer i Cicle Cel•lular, Grup de Recerca Biomèdica en Urologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain |
dc.identifier.pmid | 34121983 |
dc.identifier.wos | 000658890200001 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F01411 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/CB16%2F12%2F00363 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |