Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease
Phenotype; Rat; Parkinson
| Autores: | , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:dnet:recercat____::3415bc9124d086d0a23bb24cd3e76ccf |
| Acceso en línea: | http://hdl.handle.net/11351/14595 https://hdl.handle.net/11351/14595 |
| Access Level: | acceso abierto |
| Palabra clave: | Rates (Animals de laboratori) Anomalies cromosòmiques Parkinson, Malaltia de - Aspectes genètics ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Eutheria::Rodentia::Muridae::Murinae::Mice PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders Other subheadings::Other subheadings::Other subheadings::/genetics DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::mamíferos::Eutheria::Rodentia::Muridae::Murinae::ratones FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos Otros calificadores::Otros calificadores::Otros calificadores::/genética ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson |
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Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease |
| title |
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease |
| spellingShingle |
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease Kinet, Rémi Rates (Animals de laboratori) Anomalies cromosòmiques Parkinson, Malaltia de - Aspectes genètics ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Eutheria::Rodentia::Muridae::Murinae::Mice PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders Other subheadings::Other subheadings::Other subheadings::/genetics DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::mamíferos::Eutheria::Rodentia::Muridae::Murinae::ratones FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos Otros calificadores::Otros calificadores::Otros calificadores::/genética ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson |
| title_short |
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease |
| title_full |
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease |
| title_fullStr |
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease |
| title_full_unstemmed |
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease |
| title_sort |
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease |
| dc.creator.none.fl_str_mv |
Kinet, Rémi Sikora, Joanna Arotçarena, Marie-Laure Decourt, Mélina Balado, Eric Doudnikoff, Evelyne Vila, Miquel |
| author |
Kinet, Rémi |
| author_facet |
Kinet, Rémi Sikora, Joanna Arotçarena, Marie-Laure Decourt, Mélina Balado, Eric Doudnikoff, Evelyne Vila, Miquel |
| author_role |
author |
| author2 |
Sikora, Joanna Arotçarena, Marie-Laure Decourt, Mélina Balado, Eric Doudnikoff, Evelyne Vila, Miquel |
| author2_role |
author author author author author author |
| dc.contributor.none.fl_str_mv |
Institut Català de la Salut [Kinet R, Arotcarena ML, Doudnikoff E] Univ. de Bordeaux, CNRS, IMN, UMR 5293, Bordeaux, France. [Sikora J] Univ. de Bordeaux, CNRS, IMN, UMR 5293, Bordeaux, France. Univ. De Poitiers, INSERM, LNEC, Poitiers, France. [Decourt M, Balado E] Univ. De Poitiers, INSERM, LNEC, Poitiers, France. [Vila M] Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Instituto Carlos III, Madrid, Spain. Grup de Recerca de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Department of Biochemistry and Molecular Biology, Autonomous University of Barcelona (UAB), Barcelona, Spain. Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain Vall d'Hebron Barcelona Hospital Campus |
| dc.subject.none.fl_str_mv |
Rates (Animals de laboratori) Anomalies cromosòmiques Parkinson, Malaltia de - Aspectes genètics ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Eutheria::Rodentia::Muridae::Murinae::Mice PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders Other subheadings::Other subheadings::Other subheadings::/genetics DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::mamíferos::Eutheria::Rodentia::Muridae::Murinae::ratones FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos Otros calificadores::Otros calificadores::Otros calificadores::/genética ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson |
| topic |
Rates (Animals de laboratori) Anomalies cromosòmiques Parkinson, Malaltia de - Aspectes genètics ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Eutheria::Rodentia::Muridae::Murinae::Mice PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders Other subheadings::Other subheadings::Other subheadings::/genetics DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::mamíferos::Eutheria::Rodentia::Muridae::Murinae::ratones FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos Otros calificadores::Otros calificadores::Otros calificadores::/genética ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson |
| description |
Phenotype; Rat; Parkinson |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2025 2026 2026 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11351/14595 https://hdl.handle.net/11351/14595 |
| url |
http://hdl.handle.net/11351/14595 https://hdl.handle.net/11351/14595 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
npj Parkinson's Disease;11 https://doi.org/10.1038/s41531-025-01171-0 |
| dc.rights.none.fl_str_mv |
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.publisher.none.fl_str_mv |
Nature Portfolio |
| publisher.none.fl_str_mv |
Nature Portfolio |
| dc.source.none.fl_str_mv |
Scientia reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Recercat. Dipósit de la Recerca de Catalunya |
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Recercat. Dipósit de la Recerca de Catalunya |
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1869411861752971264 |
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Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s diseaseKinet, RémiSikora, JoannaArotçarena, Marie-LaureDecourt, MélinaBalado, EricDoudnikoff, EvelyneVila, MiquelRates (Animals de laboratori)Anomalies cromosòmiquesParkinson, Malaltia de - Aspectes genèticsORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Eutheria::Rodentia::Muridae::Murinae::MicePHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::MutationDISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian DisordersOther subheadings::Other subheadings::Other subheadings::/geneticsDISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson DiseaseORGANISMOS::Eukaryota::animales::Chordata::vertebrados::mamíferos::Eutheria::Rodentia::Muridae::Murinae::ratonesFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutaciónENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianosOtros calificadores::Otros calificadores::Otros calificadores::/genéticaENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de ParkinsonPhenotype; Rat; ParkinsonFenotipo; Rata; ParkinsonFenotip; Rata; ParkinsonMutations in the ATP13A2 gene were identified as the cause of Kufor-Rakeb syndrome (KRS), a juvenile-onset form of Parkinson’s disease (PD). Developing relevant and predictive models for the rare PD forms is necessary to understand the pathological mechanisms and validate therapeutic strategies. Herein, we aimed to comprehensively characterize the first transgenic Atp13a2 knockout rat model. Behavioral assessment demonstrated specific developmental deficits in animals with deletion of Atp13a2. Further analysis revealed that Atp13a2 knockout rats displayed age-dependent fine motor skills deficits and impaired locomotor habituation similar to those observed in PD patients at the early stage of motor symptoms. In contrast, no change in the nigrostriatal integrity was observed. An extended investigation on heavy metals homeostasis, autophagy-related markers, and lipofuscin accumulation showed significant changes reminiscent of KRS. Finally, we tested whether inducing pathology by viral-mediated overexpression of human α-synuclein or human tyrosinase exacerbated the onset or extent of pathological changes. This Atp13a2 KO rat model could help better understand autophagy in PD pathogenesis and open new therapeutic validation opportunities.Nature PortfolioInstitut Català de la Salut[Kinet R, Arotcarena ML, Doudnikoff E] Univ. de Bordeaux, CNRS, IMN, UMR 5293, Bordeaux, France. [Sikora J] Univ. de Bordeaux, CNRS, IMN, UMR 5293, Bordeaux, France. Univ. De Poitiers, INSERM, LNEC, Poitiers, France. [Decourt M, Balado E] Univ. De Poitiers, INSERM, LNEC, Poitiers, France. [Vila M] Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Instituto Carlos III, Madrid, Spain. Grup de Recerca de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Department of Biochemistry and Molecular Biology, Autonomous University of Barcelona (UAB), Barcelona, Spain. Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202620262025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/11351/14595https://hdl.handle.net/11351/14595Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésnpj Parkinson's Disease;11https://doi.org/10.1038/s41531-025-01171-0Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:dnet:recercat____::3415bc9124d086d0a23bb24cd3e76ccf2026-05-29T05:05:01Z |
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15,81155 |