{"id":"https://openalex.org/W7204144792","doi":"https://doi.org/10.1093/narmme/ugag040","title":"SLIRP differentially modulates RNA binding of pathogenic LRPPRC variants","display_name":"SLIRP differentially modulates RNA binding of pathogenic LRPPRC variants","publication_year":2026,"publication_date":"2026-07-01","ids":{"openalex":"https://openalex.org/W7204144792","doi":"https://doi.org/10.1093/narmme/ugag040","pmid":"https://pubmed.ncbi.nlm.nih.gov/42688402"},"language":"en","primary_location":{"id":"doi:10.1093/narmme/ugag040","doi":"https://doi.org/10.1093/narmme/ugag040","is_oa":true,"landing_page_url":"https://doi.org/10.1093/narmme/ugag040","pdf_url":null,"source":{"id":"https://openalex.org/S5407040177","display_name":"NAR Molecular Medicine","issn_l":"2976-856X","issn":["2976-856X"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","jufo-1","norway-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR Molecular Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/narmme/ugag040","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Louise Lambert","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I198244214","display_name":"Universit\u00e9 Clermont Auvergne","ror":"https://ror.org/01a8ajp46","country_code":"FR","type":"education","lineage":["https://openalex.org/I198244214"]},{"id":"https://openalex.org/I4210102222","display_name":"Laboratoire de Physique de Clermont Auvergne","ror":"https://ror.org/0214k6v65","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]},{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["FR","SE"],"is_corresponding":false,"raw_author_name":"Louise Lambert","raw_affiliation_strings":["Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","institution_ids":["https://openalex.org/I881427289"]},{"raw_affiliation_string":"Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053354974","display_name":"Ur\u0161ka Rov\u0161nik","orcid":"https://orcid.org/0000-0001-5889-6899","observed_orcids":["https://orcid.org/0000-0001-5889-6899"]},"institutions":[{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Ur\u0161ka Rov\u0161nik","raw_affiliation_strings":["Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","institution_ids":["https://openalex.org/I881427289"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011815519","display_name":"Amandine Moretton","orcid":"https://orcid.org/0000-0003-1700-3999","observed_orcids":["https://orcid.org/0000-0003-1700-3999"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I198244214","display_name":"Universit\u00e9 Clermont Auvergne","ror":"https://ror.org/01a8ajp46","country_code":"FR","type":"education","lineage":["https://openalex.org/I198244214"]},{"id":"https://openalex.org/I4210102222","display_name":"Laboratoire de Physique de Clermont Auvergne","ror":"https://ror.org/0214k6v65","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Amandine Moretton","raw_affiliation_strings":["Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,"],"raw_orcid":"https://orcid.org/0000-0003-1700-3999","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108534557","display_name":"Karin Johansson","orcid":"https://orcid.org/0009-0005-8992-7631","observed_orcids":["https://orcid.org/0009-0005-8992-7631"]},"institutions":[{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Katarina Johansson","raw_affiliation_strings":["Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,"],"raw_orcid":"https://orcid.org/0009-0005-8992-7631","affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","institution_ids":["https://openalex.org/I881427289"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063888300","display_name":"M\u00e3d\u00e3lina S\u00e3cultanu","orcid":"https://orcid.org/0000-0002-2964-9538","observed_orcids":["https://orcid.org/0000-0002-2964-9538"]},"institutions":[{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"M\u00e3d\u00e3lina S\u00e3cultanu","raw_affiliation_strings":["Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","institution_ids":["https://openalex.org/I881427289"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148039159","display_name":"Mathilde Ch\u00e9ron","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I198244214","display_name":"Universit\u00e9 Clermont Auvergne","ror":"https://ror.org/01a8ajp46","country_code":"FR","type":"education","lineage":["https://openalex.org/I198244214"]},{"id":"https://openalex.org/I4210102222","display_name":"Laboratoire de Physique de Clermont Auvergne","ror":"https://ror.org/0214k6v65","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mathilde Ch\u00e9ron","raw_affiliation_strings":["Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5147993532","display_name":"Ad\u00e8le Porcan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I198244214","display_name":"Universit\u00e9 Clermont Auvergne","ror":"https://ror.org/01a8ajp46","country_code":"FR","type":"education","lineage":["https://openalex.org/I198244214"]},{"id":"https://openalex.org/I4210102222","display_name":"Laboratoire de Physique de Clermont Auvergne","ror":"https://ror.org/0214k6v65","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Ad\u00e8le Porcan","raw_affiliation_strings":["Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054899752","display_name":"Bertil Macao","orcid":"https://orcid.org/0000-0001-6511-6125","observed_orcids":["https://orcid.org/0000-0001-6511-6125"]},"institutions":[{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Bertil Macao","raw_affiliation_strings":["Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,"],"raw_orcid":"https://orcid.org/0000-0001-6511-6125","affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","institution_ids":["https://openalex.org/I881427289"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012397278","display_name":"Siet M. J. L. van den Wildenberg","orcid":"https://orcid.org/0000-0001-8293-7494","observed_orcids":["https://orcid.org/0000-0001-8293-7494"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I198244214","display_name":"Universit\u00e9 Clermont Auvergne","ror":"https://ror.org/01a8ajp46","country_code":"FR","type":"education","lineage":["https://openalex.org/I198244214"]},{"id":"https://openalex.org/I4210102222","display_name":"Laboratoire de Physique de Clermont Auvergne","ror":"https://ror.org/0214k6v65","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]},{"id":"https://openalex.org/I4210111874","display_name":"Observatoire de Physique du Globe de Clermont-Ferrand","ror":"https://ror.org/01bch8q67","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210111874","https://openalex.org/I4210148025"]},{"id":"https://openalex.org/I4210125915","display_name":"Laboratoire Magmas et Volcans","ror":"https://ror.org/02vnq7240","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I2802818602","https://openalex.org/I4210090127","https://openalex.org/I4210111874","https://openalex.org/I4210125915","https://openalex.org/I4210131494","https://openalex.org/I4210148025","https://openalex.org/I4210166444"]},{"id":"https://openalex.org/I4210166444","display_name":"Institut de Recherche pour le D\u00e9veloppement","ror":"https://ror.org/05q3vnk25","country_code":"FR","type":"government","lineage":["https://openalex.org/I2802818602","https://openalex.org/I4210090127","https://openalex.org/I4210131494","https://openalex.org/I4210166444"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Siet van\u00a0den\u00a0Wildenberg","raw_affiliation_strings":["Laboratoire Magmas et Volcans, Universit\u00e9 Clermont Auvergne, CNRS, IRD, OPGC , 6 av. Blaise Pascal, Aubi\u00e8re 63170 ,","Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire Magmas et Volcans, Universit\u00e9 Clermont Auvergne, CNRS, IRD, OPGC , 6 av. Blaise Pascal, Aubi\u00e8re 63170 ,","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210111874","https://openalex.org/I4210125915","https://openalex.org/I4210166444"]},{"raw_affiliation_string":"Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101726229","display_name":"Xuefeng Zhu","orcid":"https://orcid.org/0000-0002-4759-4446","observed_orcids":["https://orcid.org/0000-0002-4759-4446"]},"institutions":[{"id":"https://openalex.org/I137506752","display_name":"North China University of Science and Technology","ror":"https://ror.org/04z4wmb81","country_code":"CN","type":"education","lineage":["https://openalex.org/I137506752"]},{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["CN","SE"],"is_corresponding":false,"raw_author_name":"Xuefeng Zhu","raw_affiliation_strings":["Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","School of Basic Medical Sciences, North China University of Science and Technology , Tangshan 063210 ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","institution_ids":["https://openalex.org/I881427289"]},{"raw_affiliation_string":"School of Basic Medical Sciences, North China University of Science and Technology , Tangshan 063210 ,","institution_ids":["https://openalex.org/I137506752"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084403450","display_name":"Maria Falkenberg","orcid":"https://orcid.org/0000-0001-8713-173X","observed_orcids":["https://orcid.org/0000-0001-8713-173X"]},"institutions":[{"id":"https://openalex.org/I881427289","display_name":"University of Gothenburg","ror":"https://ror.org/01tm6cn81","country_code":"SE","type":"education","lineage":["https://openalex.org/I881427289"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Maria Falkenberg","raw_affiliation_strings":["Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,"],"raw_orcid":"https://orcid.org/0000-0001-8713-173X","affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry and Cell Biology, University of Gothenburg , P.O. Box 440, SE-405 30 Gothenburg ,","institution_ids":["https://openalex.org/I881427289"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072333845","display_name":"G\u00e9raldine Farge","orcid":"https://orcid.org/0000-0003-1054-4274","observed_orcids":["https://orcid.org/0000-0003-1054-4274"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I198244214","display_name":"Universit\u00e9 Clermont Auvergne","ror":"https://ror.org/01a8ajp46","country_code":"FR","type":"education","lineage":["https://openalex.org/I198244214"]},{"id":"https://openalex.org/I4210102222","display_name":"Laboratoire de Physique de Clermont Auvergne","ror":"https://ror.org/0214k6v65","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"G\u00e9raldine Farge","raw_affiliation_strings":["Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,"],"raw_orcid":"https://orcid.org/0000-0003-1054-4274","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Clermont Auvergne, CNRS, Laboratoire de Physique de Clermont Auvergne , F-63000 Clermont-Ferrand ,","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I198244214","https://openalex.org/I4210102222"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2300,"currency":"USD","value_usd":2300},"apc_paid":{"value":2300,"currency":"USD","value_usd":2300},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.60641328,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"3","issue":"3","first_page":"ugag040","last_page":"ugag040"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.5365999937057495,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.5365999937057495,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.42289999127388,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.008299999870359898,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lrpprc","display_name":"LRPPRC","score":0.9800000190734863},{"id":"https://openalex.org/keywords/rna-binding","display_name":"RNA binding","score":0.7099999785423279},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.8209999799728394},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.9290000200271606},{"id":"https://openalex.org/keywords/polyadenylation","display_name":"polyadenylation","score":0.8450000286102295},{"id":"https://openalex.org/keywords/oxidative-phosphorylation","display_name":"oxidative phosphorylation","score":0.8429999947547913},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.6589999794960022},{"id":"https://openalex.org/keywords/conformational-stabilization","display_name":"conformational stabilization","score":0.8080000281333923},{"id":"https://openalex.org/keywords/treatment-strategy","display_name":"treatment options","score":0.4399999976158142}],"concepts":[{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5958999991416931},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.569100022315979},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5634999871253967},{"id":"https://openalex.org/C142575336","wikidata":"https://www.wikidata.org/wiki/Q412148","display_name":"Polyadenylation","level":4,"score":0.5266000032424927},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.49880000948905945},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.49869999289512634},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46779999136924744},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4383000135421753},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.43479999899864197},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.43059998750686646},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4097000062465668},{"id":"https://openalex.org/C183978625","wikidata":"https://www.wikidata.org/wiki/Q903596","display_name":"Electrophoretic mobility shift assay","level":4,"score":0.3991999924182892},{"id":"https://openalex.org/C41282012","wikidata":"https://www.wikidata.org/wiki/Q3928341","display_name":"RNA-binding protein","level":4,"score":0.3926999866962433},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.38690000772476196},{"id":"https://openalex.org/C2779406938","wikidata":"https://www.wikidata.org/wiki/Q24720289","display_name":"Uncoupling protein","level":4,"score":0.3853999972343445},{"id":"https://openalex.org/C6929976","wikidata":"https://www.wikidata.org/wiki/Q3771881","display_name":"Regulator","level":3,"score":0.38370001316070557},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.38109999895095825},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37700000405311584},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3723999857902527},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.3386000096797943},{"id":"https://openalex.org/C89611455","wikidata":"https://www.wikidata.org/wiki/Q6804646","display_name":"Mechanism (biology)","level":2,"score":0.3285999894142151},{"id":"https://openalex.org/C57600042","wikidata":"https://www.wikidata.org/wiki/Q227564","display_name":"Oxidative phosphorylation","level":2,"score":0.2913999855518341},{"id":"https://openalex.org/C165864922","wikidata":"https://www.wikidata.org/wiki/Q411391","display_name":"Regulation of gene expression","level":3,"score":0.29109999537467957},{"id":"https://openalex.org/C22667442","wikidata":"https://www.wikidata.org/wiki/Q3272830","display_name":"Three prime untranslated region","level":5,"score":0.27090001106262207},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2655999958515167}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1093/narmme/ugag040","doi":"https://doi.org/10.1093/narmme/ugag040","is_oa":true,"landing_page_url":"https://doi.org/10.1093/narmme/ugag040","pdf_url":null,"source":{"id":"https://openalex.org/S5407040177","display_name":"NAR Molecular Medicine","issn_l":"2976-856X","issn":["2976-856X"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","jufo-1","norway-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR Molecular Medicine","raw_type":"journal-article"},{"id":"pmid:42688402","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42688402","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR molecular medicine","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13535226","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13535226/pdf/ugag040.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"NAR Mol Med","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/narmme/ugag040","doi":"https://doi.org/10.1093/narmme/ugag040","is_oa":true,"landing_page_url":"https://doi.org/10.1093/narmme/ugag040","pdf_url":null,"source":{"id":"https://openalex.org/S5407040177","display_name":"NAR Molecular Medicine","issn_l":"2976-856X","issn":["2976-856X"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","jufo-1","norway-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"NAR Molecular Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320313607","display_name":"Swedish Cancer Foundation","ror":null},{"id":"https://openalex.org/F4320322327","display_name":"Knut och Alice Wallenbergs Stiftelse","ror":"https://ror.org/004hzzk67"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W1994588239","https://openalex.org/W2002679195","https://openalex.org/W2019348599","https://openalex.org/W2024080095","https://openalex.org/W2055302859","https://openalex.org/W2061052195","https://openalex.org/W2065176101","https://openalex.org/W2081407528","https://openalex.org/W2095636501","https://openalex.org/W2113180960","https://openalex.org/W2115540209","https://openalex.org/W2118956496","https://openalex.org/W2119273342","https://openalex.org/W2147357733","https://openalex.org/W2161151688","https://openalex.org/W2170076251","https://openalex.org/W2180536020","https://openalex.org/W2190865335","https://openalex.org/W2199762206","https://openalex.org/W2462997437","https://openalex.org/W2767740853","https://openalex.org/W2884073635","https://openalex.org/W3014677172","https://openalex.org/W3017154502","https://openalex.org/W4322704084","https://openalex.org/W4380089158","https://openalex.org/W4387164156","https://openalex.org/W4388763678","https://openalex.org/W4394684666","https://openalex.org/W4396721167","https://openalex.org/W4401520311","https://openalex.org/W4406376828"],"related_works":[],"abstract_inverted_index":{"The":[0],"LRPPRC/SLIRP":[1],"complex":[2],"is":[3],"a":[4,124],"key":[5],"post-transcriptional":[6],"regulator":[7],"of":[8,43,82,89],"mitochondrial":[9,13,25,130],"gene":[10],"expression,":[11],"stabilizing":[12],"mRNAs":[14],"and":[15,19,46,52,62,104,117],"promoting":[16],"their":[17],"polyadenylation":[18],"translation.":[20],"Mutations":[21],"in":[22,79,113],"LRPPRC":[23,45,115],"cause":[24],"disorders,":[26],"including":[27],"Leigh":[28],"syndrome":[29],"French-Canadian":[30],"type":[31],"(LSFC),":[32],"primarily":[33],"affecting":[34],"oxidative":[35],"phosphorylation.":[36],"Here,":[37],"we":[38],"examined":[39],"the":[40,80],"RNA-binding":[41],"properties":[42],"wild-type":[44,94],"three":[47,67],"pathogenic":[48],"variants":[49],"(A354V,":[50],"K909del,":[51],"R1276_K1300del)":[53],"using":[54],"electrophoretic":[55],"mobility":[56],"shift":[57],"assays,":[58],"acoustic":[59],"force":[60],"spectroscopy,":[61],"AlphaFold":[63],"3":[64],"modeling.":[65],"All":[66],"mutations":[68],"reduced":[69],"intrinsic":[70],"RNA":[71,87],"binding,":[72],"with":[73],"R1276_K1300del":[74],"showing":[75],"no":[76],"detectable":[77],"interaction":[78],"absence":[81],"SLIRP.":[83],"Remarkably,":[84],"SLIRP":[85,121],"restored":[86],"binding":[88],"this":[90],"mutant":[91],"to":[92],"near":[93],"levels,":[95],"likely":[96],"through":[97],"conformational":[98],"stabilization,":[99],"as":[100],"supported":[101],"by":[102],"single-molecule":[103],"structural":[105],"analyses.":[106],"These":[107],"findings":[108],"highlight":[109],"SLIRP's":[110],"critical":[111],"role":[112],"modulating":[114],"function":[116],"suggest":[118],"that":[119],"enhancing":[120],"activity":[122],"represents":[123],"potential":[125],"therapeutic":[126],"strategy":[127],"for":[128],"LRPPRC-related":[129],"disorders.":[131]},"counts_by_year":[],"updated_date":"2026-10-06T10:28:23.643775","created_date":"2026-08-25T00:00:00"}