| http://purl.uniprot.org/citations/34426662 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34426662 | http://www.w3.org/2000/01/rdf-schema#comment | "In a Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants in SLIRP. SLIRP gene encodes a stem-loop RNA-binding protein that regulates mitochondrial RNA expression and oxidative phosphorylation (OXPHOS). A frameshift and a deep-intronic splicing variant reduced the amount of functional wild-type SLIRP RNA to 5%. Consequently, in patient fibroblasts, MT-ND1, MT-ND6, and MT-CO1 expression was reduced. Lentiviral transduction of wild-type SLIRP cDNA in patient fibroblasts increased MT-ND1, MT-ND6, and MT-CO1 expression (2.5-7.2-fold), whereas mutant cDNAs did not. A fourfold decrease of citrate synthase versus total protein ratio in patient fibroblasts indicated that the resulting reduced mitochondrial mass caused the OXPHOS deficiency. Transduction with wild-type SLIRP cDNA led to a 2.4-fold increase of this ratio and partly restored OXPHOS activity. This confirmed causality of the SLIRP variants. In conclusion, we report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41431-021-00947-1"xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Guo L."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Gerards M."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Jacobs E.H."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Vreeburg M."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Smeets H.J.M."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "de Coo I.F.M."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Hellebrekers D.M.E.I."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Sadeghi-Niaraki F."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Sallevelt S.C.E.H."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Engelen B.P.H."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "Hemel I.M.G.M."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/author | "van Tienen F.H.J."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/pages | "1789-1795"xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/title | "Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency."xsd:string |
| http://purl.uniprot.org/citations/34426662 | http://purl.uniprot.org/core/volume | "29"xsd:string |
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