Torna al Registre Simple

 
dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorShintaku, Jonathan
dc.contributor.authorPernice, Wolfgang Maximilian Anton
dc.contributor.authorEyaid, Wafaa
dc.contributor.authorGC, Jeevan
dc.contributor.authorBrown, Zuben P.
dc.contributor.authorJuanola-Falgarona, Martí
dc.contributor.authorTorres Torronteras, Javier
dc.contributor.authorMartí Seves, Ramón
dc.date.accessioned2022-09-09T07:32:25Z
dc.date.available2022-09-09T07:32:25Z
dc.date.issued2022-07-01
dc.identifier.citationShintaku J, Pernice WM, Eyaid W, GC JB, Brown ZP, Juanola-Falgarona M, et al. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. J Clin Invest. 2022 Jul 1;132(13):e145660.
dc.identifier.issn1558-8238
dc.identifier.urihttp://hdl.handle.net/11351/8087
dc.descriptionMalalties genètiques; Mitocondris; Patologia molecular
dc.description.sponsorshipThis work was supported by Department of Defense Focused Program Award W81XWH2010807 (to MH), NIH research grant P01 HD32062 (to MH), and NIH grant 35 GM139453 (to JF). MH is supported by the Arturo Estopinan TK2 Research Fund, Nicholas Nunno Foundation, JDM Fund for Mitochondrial Research, Shuman Mitochondrial Disease Fund, the Marriott Mitochondrial Disease Clinic Research Fund from the J. Willard and Alice S. Marriott Foundation, and NIH grant U54 NS078059. Work in Newcastle upon Tyne was supported by the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), UK NIHR Biomedical Research Centre in Age and Age Related Diseases award to the Newcastle upon Tyne Hospitals NHS Foundation, the Lily Foundation, and the UK National Health Service Highly Specialised Service for Rare Mitochondrial Disorders. RWT receives financial support from the Pathological Society. EWS was funded by a Medical Research Council PhD studentship. This work used the Extreme Science and Engineering Discovery Environment (XSEDE), which is supported by National Science Foundation grant ACI-1548562. JBGC is supported by grant BIO210070 from XSEDE. The authors thank the patients and their families for collaborating in this study and Saba Tadesse for technical support of mitochondrial respiratory chain enzyme activities. We also thank the Genome Technology Center at the Radboud University Medical Center and BGI Copenhagen for WES technical support.
dc.language.isoeng
dc.publisherAmerican Society for Clinical Investigation
dc.relation.ispartofseriesThe Journal of Clinical Investigation;132(13)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectMitocondris - Malalties - Aspectes genètics
dc.subjectADN mitocondrial
dc.subject.meshDNA, Mitochondrial
dc.subject.meshMitochondrial Diseases
dc.subject.mesh/genetics
dc.titleRRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1172/JCI145660
dc.subject.decsADN mitocondrial
dc.subject.decsenfermedades mitocondriales
dc.subject.decs/genética
dc.relation.publishversionhttps://doi.org/10.1172/JCI145660
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Shintaku J, Pernice WM, Juanola-Falgarona M] Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, New York, USA. [Eyaid W] Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Riyadh, Saudi Arabia. [GC JB, Brown ZP] Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA. [Torres-Torronteras J, Marti R] Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. Grups de Recerca en Malalties Neuromusculars i Mitocondrials, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain
dc.identifier.pmid35617047
dc.identifier.wos000829089900004
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


Fitxers en aquest element

Thumbnail

Aquest element apareix en la col·lecció o col·leccions següent(s)

Torna al Registre Simple