| http://purl.uniprot.org/citations/28585542 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28585542 | http://www.w3.org/2000/01/rdf-schema#comment | "Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS have been investigated. In this study, we made a series of observations utilizing Caenorhabditis elegans models, mammalian cell lines, primary neurons and mouse brains, demonstrating that CHCHD10 normally exerts a protective role in mitochondrial and synaptic integrity as well as in the retention of nuclear TDP-43, whereas FTD/ALS-associated mutations (R15L and S59L) exhibit loss of function phenotypes in C. elegans genetic complementation assays and dominant negative activities in mammalian systems, resulting in mitochondrial/synaptic damage and cytoplasmic TDP-43 accumulation. As such, our results provide a pathological link between CHCHD10-associated mitochondrial/synaptic dysfunction and cytoplasmic TDP-43 inclusions."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms15558"xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Liu T."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Zhao X."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Westerheide S.D."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Trotter C."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Bukhari A."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Fang C.C."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Kang D.E."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Woo J.A."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Deonarine A."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "De Narvaez E."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "LePochat P."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/author | "Maslar D."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/pages | "15558"xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/title | "Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity."xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://purl.uniprot.org/core/volume | "8"xsd:string |
| http://purl.uniprot.org/citations/28585542 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28585542 |
| http://purl.uniprot.org/citations/28585542 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/28585542 |
| http://purl.uniprot.org/uniprot/Q09254#attribution-A57C5D684DDB6D2048167E9922381E89 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/28585542 |
| http://purl.uniprot.org/uniprot/Q09254#attribution-AB99D4760EBD4215302484B7EF39573F | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/28585542 |
| http://purl.uniprot.org/uniprot/Q921F2#attribution-F20D5A053FB33DD01BE3005ED1860774 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/28585542 |