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A dominant-negative variant in the dopamine transporter PDZ-binding motif is linked to parkinsonism and neuropsychiatric disease

View ORCID ProfileFreja Herborg, Kathrine L. Jensen, Sasha Tolstoy, Natascha V. Arends, Leonie P. Posselt, Aparna Shekar, Jenny Aguilar, Viktor K. Lund, Kevin Erreger, Mattias Rickhag, Matthew D. Lykas, Markus N. Lonsdale, Troels Rahbek-Clemmensen, Andreas T. Sørensen, Amy H. Newman, Annemette Løkkegaard, Ole Kjærulff, Thomas Werge, Lisbeth B. Møller, Heinrich JG Matthies, Aurelio Galli, Lena E. Hjermind, Ulrik Gether
doi: https://doi.org/10.1101/2020.10.12.336461
Freja Herborg
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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  • ORCID record for Freja Herborg
  • For correspondence: frejahh@sund.ku.dk gether@sund.ku.dk
Kathrine L. Jensen
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Sasha Tolstoy
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Natascha V. Arends
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Leonie P. Posselt
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Aparna Shekar
2Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, USA
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Jenny Aguilar
2Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, USA
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Viktor K. Lund
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Kevin Erreger
2Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, USA
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Mattias Rickhag
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Matthew D. Lykas
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Markus N. Lonsdale
3Department of Clinical Physiology & Nuclear Medicine, Bispebjerg Hospital, Copenhagen, Denmark
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Troels Rahbek-Clemmensen
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Andreas T. Sørensen
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Amy H. Newman
4National Institute on Drug Abuse-Intramural Research Program, National Institutes of Health, Baltimore, USA
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Annemette Løkkegaard
5Department of Neurology, Bispebjerg Hospital, Copenhagen University Hospital, Denmark
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Ole Kjærulff
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Thomas Werge
6Institute of Biological Psychiatry, Mental Health Services Copenhagen; Department of Clinical Medicine, University of Copenhagen; and The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Denmark
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Lisbeth B. Møller
7Center for Applied Human Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark
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Heinrich JG Matthies
8Department of Surgery, University of Alabama, Birmingham, USA
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Aurelio Galli
8Department of Surgery, University of Alabama, Birmingham, USA
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Lena E. Hjermind
9Danish Dementia Research Centre, Clinic of Neurogenetics, Department of Neurology, Rigshospitalet, Copenhagen University Hospital and Department of Cellular and Molecular Medicine, Section of Neurogenetics, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Ulrik Gether
1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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  • For correspondence: frejahh@sund.ku.dk gether@sund.ku.dk
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Article Information

doi 
https://doi.org/10.1101/2020.10.12.336461
History 
  • October 12, 2020.
Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.

Author Information

  1. Freja Herborg1,†,
  2. Kathrine L. Jensen1,
  3. Sasha Tolstoy1,
  4. Natascha V. Arends1,
  5. Leonie P. Posselt1,
  6. Aparna Shekar2,
  7. Jenny Aguilar2,
  8. Viktor K. Lund1,
  9. Kevin Erreger2,
  10. Mattias Rickhag1,
  11. Matthew D. Lykas1,
  12. Markus N. Lonsdale3,
  13. Troels Rahbek-Clemmensen1,
  14. Andreas T. Sørensen1,
  15. Amy H. Newman4,
  16. Annemette Løkkegaard5,
  17. Ole Kjærulff1,
  18. Thomas Werge*,6,
  19. Lisbeth B. Møller7,
  20. Heinrich JG Matthies8,
  21. Aurelio Galli8,
  22. Lena E. Hjermind9 and
  23. Ulrik Gether1,†
  1. 1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
  2. 2Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, USA
  3. 3Department of Clinical Physiology & Nuclear Medicine, Bispebjerg Hospital, Copenhagen, Denmark
  4. 4National Institute on Drug Abuse-Intramural Research Program, National Institutes of Health, Baltimore, USA
  5. 5Department of Neurology, Bispebjerg Hospital, Copenhagen University Hospital, Denmark
  6. 6Institute of Biological Psychiatry, Mental Health Services Copenhagen; Department of Clinical Medicine, University of Copenhagen; and The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Denmark
  7. 7Center for Applied Human Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark
  8. 8Department of Surgery, University of Alabama, Birmingham, USA
  9. 9Danish Dementia Research Centre, Clinic of Neurogenetics, Department of Neurology, Rigshospitalet, Copenhagen University Hospital and Department of Cellular and Molecular Medicine, Section of Neurogenetics, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
  1. ↵†Address Author correspondence to: Freja Herborg, Department of Neuroscience, Maersk Tower 7.5, University of Copenhagen, Blegdamsvej 3B, DK-2200 N, Copenhagen, Denmark. Phone +4553609699; E-mail: frejahh{at}sund.ku.dk. Or to: Ulrik Gether, Department of Neuroscience, Maersk Tower 7.5, University of Copenhagen, Blegdamsvej 3B, DK-2200 N, Copenhagen, Denmark. Phone 45 2875 7548; E-mail: gether{at}sund.ku.dk.
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A dominant-negative variant in the dopamine transporter PDZ-binding motif is linked to parkinsonism and neuropsychiatric disease
Freja Herborg, Kathrine L. Jensen, Sasha Tolstoy, Natascha V. Arends, Leonie P. Posselt, Aparna Shekar, Jenny Aguilar, Viktor K. Lund, Kevin Erreger, Mattias Rickhag, Matthew D. Lykas, Markus N. Lonsdale, Troels Rahbek-Clemmensen, Andreas T. Sørensen, Amy H. Newman, Annemette Løkkegaard, Ole Kjærulff, Thomas Werge, Lisbeth B. Møller, Heinrich JG Matthies, Aurelio Galli, Lena E. Hjermind, Ulrik Gether
bioRxiv 2020.10.12.336461; doi: https://doi.org/10.1101/2020.10.12.336461
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A dominant-negative variant in the dopamine transporter PDZ-binding motif is linked to parkinsonism and neuropsychiatric disease
Freja Herborg, Kathrine L. Jensen, Sasha Tolstoy, Natascha V. Arends, Leonie P. Posselt, Aparna Shekar, Jenny Aguilar, Viktor K. Lund, Kevin Erreger, Mattias Rickhag, Matthew D. Lykas, Markus N. Lonsdale, Troels Rahbek-Clemmensen, Andreas T. Sørensen, Amy H. Newman, Annemette Løkkegaard, Ole Kjærulff, Thomas Werge, Lisbeth B. Møller, Heinrich JG Matthies, Aurelio Galli, Lena E. Hjermind, Ulrik Gether
bioRxiv 2020.10.12.336461; doi: https://doi.org/10.1101/2020.10.12.336461

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