Characterising a homozygous two‐exon deletion in UQCRH : comparing human and mouse phenotypes-Reference-Cited by-同舟云学术

Characterising a homozygous two‐exon deletion in UQCRH : comparing human and mouse phenotypes

Published:2021-11-08 Issue:12 Volume:13 Page:
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Vidali Silvia¹²³,Gerlini Raffaele⁴⁵^ORCID,Thompson Kyle⁶,Urquhart Jill E⁷,Meisterknecht Jana⁸,Aguilar‐Pimentel Juan Antonio⁴,Amarie Oana V⁴,Becker Lore⁴^ORCID,Breen Catherine⁷,Calzada‐Wack Julia⁴,Chhabra Nirav F⁴^ORCID,Cho Yi‐Li⁴,da Silva‐Buttkus Patricia⁴,Feichtinger René G³^ORCID,Gampe Kristine⁴,Garrett Lillian⁴⁹,Hoefig Kai P¹⁰,Hölter Sabine M⁴⁹¹¹^ORCID,Jameson Elisabeth⁷,Klein‐Rodewald Tanja⁴^ORCID,Leuchtenberger Stefanie⁴^ORCID,Marschall Susan⁴,Mayer‐Kuckuk Philipp⁴,Miller Gregor⁴^ORCID,Oestereicher Manuela A⁴,Pfannes Kristina⁴,Rathkolb Birgit⁴⁵¹²,Rozman Jan⁴⁵^ORCID,Sanders Charlotte⁶,Spielmann Nadine⁴,Stoeger Claudia⁴,Szibor Marten¹³¹⁴^ORCID,Treise Irina⁴^ORCID,Walter John H⁷,Wurst Wolfgang⁹¹¹¹⁵,Mayr Johannes A³^ORCID,Fuchs Helmut⁴,Gärtner Ulrich¹⁶,Wittig Ilka⁸¹⁷,Taylor Robert W⁶^ORCID,Newman William G⁷¹⁸^ORCID,Prokisch Holger¹²^ORCID,Gailus‐Durner Valerie⁴^ORCID,Hrabě de Angelis Martin⁴⁵¹⁹^ORCID

Affiliation:

1. Institute of Human Genetics School of Medicine Technische Universität München Munich Germany

2. Institute of Neurogenomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany

3. Department of Pediatrics University Hospital Salzburg Paracelsus Medical University Salzburg Salzburg Austria

4. Institute of Experimental Genetics and German Mouse Clinic Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany

5. German Center for Diabetes Research (DZD) Neuherberg Germany

6. Wellcome Centre for Mitochondrial Research Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

7. Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester UK

8. Functional Proteomics Institute for Cardiovascular Physiology Faculty of Medicine Goethe University Frankfurt Frankfurt Germany

9. Institute of Developmental Genetics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany

10. Research Unit Molecular Immune Regulation Helmholtz Zentrum München German Research Center for Environmental Health Munich Germany

11. Chair of Developmental Genetics TUM School of Life Sciences Technische Universität München Freising Germany

12. Institute of Molecular Animal Breeding and Biotechnology Ludwig‐Maximilians University Munich Munich Germany

13. Faculty of Medicine and Health Technology Tampere University Tampere Finland

14. Department of Cardiothoracic Surgery Jena University Hospital Jena Germany

15. Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich Munich Germany

16. Institute for Anatomy and Cell Biology Justus‐Liebig‐University of Giessen Giessen Germany

17. German Center for Cardiovascular Research (DZHK) Partner site RheinMain Frankfurt Germany

18. Evolution and Genomic Sciences School of Biological Sciences University of Manchester Manchester UK

19. Chair of Experimental Genetics TUM School of Life Sciences Technische Universität München Freising Germany

Funder

Bundesministerium für Bildung und Forschung

Austrian Science Fund

Deutsche Forschungsgemeinschaft

Wellcome Trust Centre for Mitochondrial Research

Medical Research Foundation

Action Medical Research

NIHR Bristol Biomedical Research Centre

Newcastle upon Tyne Hospitals NHS Foundation Trust

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202114397

Reference89 articles.

1. Respiratory Complex III Is Required to Maintain Complex I in Mammalian Mitochondria

2. The genetics and pathology of mitochondrial disease

3. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

4. Exercise Intolerance Due to Mutations in the CytochromebGene of Mitochondrial DNA

5. Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

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