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

doi: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

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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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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