ArticleEMBO molecular medicine2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Open access · goldAbstract readComparative Study
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Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
0.8field-weighted citation impact, top 28% of its field
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Pathomic model to predict the expression of UQCRH and overall survival of lung adenocarcinoma patients.Diagnostic pathology · 2026Article
- Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.American journal of human genetics · 2025Article
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- Formation of ICell metabolism · 2025Article
- Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.Journal of inherited metabolic disease · 2024Review
- Dual diagnosis ofRare (Amsterdam, Netherlands) · 2024Article
- Novel pathogenicCold Spring Harbor molecular case studies · 2023Article
- PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.Metabolites · 2023Article
- Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Article
- Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.EMBO molecular medicine · 2021Article
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Authors and funding
44 authors at 9 institutions in 4 countries.
Silvia VidaliInstitute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
Raffaele GerliniInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0003-0852-5621
Kyle ThompsonWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Jill E UrquhartManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Jana MeisterknechtFunctional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany.
Juan Antonio Aguilar-PimentelInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Oana V AmarieInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Lore BeckerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-6890-4984
Catherine BreenManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Julia Calzada-WackInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Nirav F ChhabraInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-6231-8423
Yi-Li ChoInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Patricia da Silva-ButtkusInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
René G FeichtingerDepartment of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria.ORCID 0000-0002-4215-8258
Kristine GampeInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Lillian GarrettInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Kai P HoefigResearch Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich, Germany.
Sabine M HölterInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0003-4878-5241
Elisabeth JamesonManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Tanja Klein-RodewaldInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-9121-106X
Stefanie LeuchtenbergerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0003-2475-0810
Susan MarschallInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Philipp Mayer-KuckukInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Gregor MillerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-4281-4905
Manuela A OestereicherInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Kristina PfannesInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Birgit RathkolbInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Jan RozmanInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-8035-8904
Charlotte SandersWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Nadine SpielmannInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Claudia StoegerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Marten SziborFaculty of Medicine and Health Technology, Tampere University, Tampere, Finland.ORCID 0000-0003-4029-160X
Irina TreiseInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-4157-5834
John H WalterManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Wolfgang WurstInstitute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Johannes A MayrDepartment of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria.ORCID 0000-0001-6970-336X
Helmut FuchsInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Ulrich GärtnerInstitute for Anatomy and Cell Biology, Justus-Liebig-University of Giessen, Giessen, Germany.
Ilka WittigFunctional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany.
Robert W TaylorWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0002-7768-8873
William G NewmanManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.ORCID 0000-0002-6382-4678
Holger ProkischInstitute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.ORCID 0000-0003-2379-6286
Valerie Gailus-DurnerInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-6076-0111
Martin Hrabě de AngelisInstitute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0002-7898-2353
Helmholtz Zentrum München · DEManchester University NHS Foundation Trust · GBParacelsus Medical University · ATWellcome Centre for Mitochondrial Research · GBGoethe University Frankfurt · DEGerman Center for Neurodegenerative Diseases · DEJustus-Liebig-Universität Gießen · DETampere University · FIUniversity of Manchester · GB
Funding
Department of Health IS-BRC-1215-20007Medical Research Council G0800674Medical Research Council MR/S005021/1Wellcome TrustWellcome Trust 203105/Z/16/Z
Abstract
Mitochondrial disorders are clinically and genetically diverse, with isolated complex III (CIII) deficiency being relatively rare. Here, we describe two affected cousins, presenting with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy. Genetic investigations in both cases identified a homozygous deletion of exons 2 and 3 of UQCRH, which encodes a structural complex III (CIII) subunit. We generated a mouse model with the equivalent homozygous Uqcrh deletion (Uqcrh
Indexed as
Mitochondrial DiseasesAnimalsElectron Transport Complex IIIExonsHomozygoteHumansMicePhenotypeSequence DeletionElectron Transport Complex IIIUQCRH protein, humancomplex IIImitochondrial diseasemouse modelOXPHOSUQCRH
Identifiers
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