1. Cell Biology

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

  1. Nuno M Rocha
  2. David A Bulger
  3. Andrea Frontini
  4. Hannah Titheradge
  5. Sigrid Bjerge Gribsholt
  6. Rachel Knox
  7. Matthew Page
  8. Julie Harris
  9. Felicity Payne
  10. Claire Adams
  11. Alison Sleigh
  12. John Crawford
  13. Anette Prior Gjesing
  14. Jette Bork-Jensen
  15. Oluf Pedersen
  16. Inês Barroso
  17. Torben Hansen
  18. Helen Cox
  19. Mary Reilly
  20. Alex Rossor
  21. Rebecca J Brown
  22. Simeon I Taylor
  23. Duncan McHale
  24. Martin Armstrong
  25. Elif A Oral
  26. Vladimir Saudek
  27. Stephen I O'Rahilly
  28. Eamonn R Maher  Is a corresponding author
  29. Bjørn Richelsen  Is a corresponding author
  30. David B Savage  Is a corresponding author
  31. Robert K Semple  Is a corresponding author
  1. The University of Cambridge Metabolic Research Laboratories, United Kingdom
  2. University of Pavia, Italy
  3. University of Birmingham, United Kingdom
  4. Aarhus University Hospital, Denmark
  5. UCB Pharma, United Kingdom
  6. Wellcome Trust Sanger Institute, United Kingdom
  7. University of Cambridge School of Clinical Medicine, United Kingdom
  8. Cambridge University Hospitals NHS Foundation Trust, United Kingdom
  9. University of Copenhagen, Denmark
  10. Birmingham Women's Hospital, United Kingdom
  11. UCL Institute of Neurology, United Kingdom
  12. National Institutes of Health, United States
  13. University of Maryland School of Medicine, United States
  14. Brehm Center for Diabetes, United States
  15. The National Institute for Health Research Cambridge Biomedical Research Centre, United Kingdom
  16. Aarhus University, Denmark
https://doi.org/10.7554/eLife.23813
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Cite this article
  1. Nuno M Rocha
  2. David A Bulger
  3. Andrea Frontini
  4. Hannah Titheradge
  5. Sigrid Bjerge Gribsholt
  6. Rachel Knox
  7. Matthew Page
  8. Julie Harris
  9. Felicity Payne
  10. Claire Adams
  11. Alison Sleigh
  12. John Crawford
  13. Anette Prior Gjesing
  14. Jette Bork-Jensen
  15. Oluf Pedersen
  16. Inês Barroso
  17. Torben Hansen
  18. Helen Cox
  19. Mary Reilly
  20. Alex Rossor
  21. Rebecca J Brown
  22. Simeon I Taylor
  23. Duncan McHale
  24. Martin Armstrong
  25. Elif A Oral
  26. Vladimir Saudek
  27. Stephen I O'Rahilly
  28. Eamonn R Maher
  29. Bjørn Richelsen
  30. David B Savage
  31. Robert K Semple
(2017)
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
eLife 6:e23813.
https://doi.org/10.7554/eLife.23813
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  1. Nuno M Rocha
  2. David A Bulger
  3. Andrea Frontini
  4. Hannah Titheradge
  5. Sigrid Bjerge Gribsholt
  6. Rachel Knox
  7. Matthew Page
  8. Julie Harris
  9. Felicity Payne
  10. Claire Adams
  11. Alison Sleigh
  12. John Crawford
  13. Anette Prior Gjesing
  14. Jette Bork-Jensen
  15. Oluf Pedersen
  16. Inês Barroso
  17. Torben Hansen
  18. Helen Cox
  19. Mary Reilly
  20. Alex Rossor
  21. Rebecca J Brown
  22. Simeon I Taylor
  23. Duncan McHale
  24. Martin Armstrong
  25. Elif A Oral
  26. Vladimir Saudek
  27. Stephen I O'Rahilly
  28. Eamonn R Maher
  29. Bjørn Richelsen
  30. David B Savage
  31. Robert K Semple
(2017)
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
eLife 6:e23813.
https://doi.org/10.7554/eLife.23813