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dc.contributor.authorMootha, Vamsi K
dc.contributor.authorChinnery, Patrick F
dc.date.accessioned2018-10-11T08:06:31Z
dc.date.available2018-10-11T08:06:31Z
dc.date.issued2018-09
dc.identifier.issn1573-2665
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/283594
dc.description.abstractMitochondrial disorders are one of the most challenging collections of human diseases impacting nearly 1:4000 live births (Vafai and Mootha 2013; Stewart and Chinnery 2015) and often affect the nervous system. Most of these disorders are due to biochemical lesions in the oxidative phosphorylation (OXPHOS) system, the organelle’s core pathway responsible for making adenosine triphosphate (ATP) by consuming the oxygen we breathe. The OXPHOS system is encoded both by the nuclear and mitochondrial (mtDNA) genomes. To date, nearly 250 different monogenic forms of mitochondrial disease, involving both genomes, have been described. Each one impacts a different subset of organ systems. The genetic, biochemical, and clinical heterogeneity has made the diagnosis and management of these disorders incredibly difficult, since no two cases present identically.
dc.languageeng
dc.publisherSpringer Nature
dc.titleOxygen in mitochondrial disease: can there be too much of a good thing?
dc.typeArticle
prism.endingPage763
prism.issueIdentifier5
prism.publicationDate2018
prism.publicationNameJournal of Inherited Metabolic Disease
prism.startingPage761
prism.volume41
dc.identifier.doi10.17863/CAM.30957
dcterms.dateAccepted2018-05-30
rioxxterms.versionofrecord10.1007/s10545-018-0210-3
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2018-09
dc.contributor.orcidChinnery, Patrick [0000-0002-7065-6617]
dc.identifier.eissn1573-2665
rioxxterms.typeJournal Article/Review
pubs.funder-project-idWellcome Trust (101876/Z/13/Z)
pubs.funder-project-idWellcome Trust (101876/B/13/A)
cam.issuedOnline2018-06-08
rioxxterms.freetoread.startdate2019-06-08


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