| http://purl.uniprot.org/citations/37107582 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37107582 | http://www.w3.org/2000/01/rdf-schema#comment | "Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor-parkinsonism syndrome. Here, we describe four new patients, who all presented at a young age with a tremor-parkinsonism syndrome and responded well to levodopa. All patients carry the same recurrent, hypomorphic missense variant (NM_015836.4: c.37T>G; p.Trp13Gly) either together with a previously described truncating variant (NM_015836.4: c.797Cdel; p.Pro266ArgfsTer10), a novel truncating variant (NM_015836.4: c.346C>T; p.Gln116Ter), a novel canonical splice site variant (NM_015836.4: c.349-1G>A), or a novel missense variant (NM_015836.4: c.475A>C, p.Thr159Pro). We investigated the mitochondrial function in patients and found increased levels of mitochondrially encoded cytochrome C Oxidase II as part of the mitochondrial respiratory chain as well as decreased mitochondrial integrity and branching. Finally, we conducted a literature review and here summarize the broad phenotypical spectrum of reported WARS2-related disorders. In conclusion, WARS2-related disorders are diagnostically challenging diseases due to the broad phenotypic spectrum and the disease relevance of a relatively common missense change that is often filtered out in a diagnostic setting since it occurs in ~0.5% of the general European population."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.org/dc/terms/identifier | "doi:10.3390/genes14040822"xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Gonzalez V."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Korenke G.C."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Munchau A."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Lohmann K."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Macaya A."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Peterlin B."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Maver A."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Pauly M.G."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Perez-Duenas B."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Bozovic I.B."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Cazurro-Gutierrez A."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Diaw S.H."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Grozinger A."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/author | "Serrano Anton A.T."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/name | "Genes (Basel)"xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/pages | "822"xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/title | "The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant."xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/37107582 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37107582 |
| http://purl.uniprot.org/citations/37107582 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/37107582 |
| http://purl.uniprot.org/uniprot/#_B7Z3L8-mappedCitation-37107582 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37107582 |