| http://purl.uniprot.org/citations/37578019 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37578019 | http://www.w3.org/2000/01/rdf-schema#comment | "Parkinson's disease (PD) is a common neurodegenerative disorder that results from the loss of dopaminergic neurons. Mutations in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) gene cause a familial form of PD with α-Synuclein aggregation, and we here identified the pathogenesis of the T61I mutation, the most common disease-causing mutation of CHCHD2. In Neuro2a cells, CHCHD2 is in mitochondria, whereas the T61I mutant (CHCHD2T61I ) is mislocalized in the cytosol. CHCHD2T61l then recruits casein kinase 1 epsilon/delta (Csnk1e/d), which phosphorylates neurofilament and α-Synuclein, forming cytosolic aggresomes. In vivo, both Chchd2T61I knock-in and transgenic mice display neurodegenerative phenotypes and aggresomes containing Chchd2T61I , Csnk1e/d, phospho-α-Synuclein, and phospho-neurofilament in their dopaminergic neurons. Similar aggresomes were observed in a postmortem PD patient brain and dopaminergic neurons generated from patient-derived iPS cells. Importantly, a Csnk1e/d inhibitor substantially suppressed the phosphorylation of neurofilament and α-Synuclein. The Csnk1e/d inhibitor also suppressed the cellular damage in CHCHD2T61I -expressing Neuro2a cells and dopaminergic neurons generated from patient-derived iPS cells and improved the neurodegenerative phenotypes of Chchd2T61I mutant mice. These results indicate that Csnk1e/d is involved in the pathogenesis of PD caused by the CHCHD2T61I mutation."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.org/dc/terms/identifier | "doi:10.15252/emmm.202317451"xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Honda S."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Sato S."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Shimizu S."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Ono M."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Hiraoka Y."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Hattori N."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Arakawa S."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Torii S."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Sakurai H.T."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Akamatsu W."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Ishikawa K.I."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/author | "Taniguchi D."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/name | "EMBO Mol Med"xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/pages | "e17451"xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/title | "Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2."xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/37578019 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37578019 |
| http://purl.uniprot.org/citations/37578019 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/37578019 |
| http://purl.uniprot.org/uniprot/#_Q3TYE1-mappedCitation-37578019 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37578019 |
| http://purl.uniprot.org/uniprot/#_Q8CBH9-mappedCitation-37578019 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37578019 |
| http://purl.uniprot.org/uniprot/#_Q3UBT6-mappedCitation-37578019 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37578019 |