Genetic, structural and functional evidence link TMEM175 to synucleinopathies,Annals of Neurology

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Genetic, structural and functional evidence link TMEM175 to synucleinopathies
Annals of Neurology ( IF 11.2 ) Pub Date : 2019-11-18 , DOI: 10.1002/ana.25629
Lynne Krohn _{1,

2} , Tuğba Nur Öztürk _{3,

4,

5} , Benoît Vanderperre _{2,

6} , Bouchra Ouled Amar Bencheikh _{2,

6} , Jennifer A Ruskey _{2,

6} , Sandra B Laurent _{2,

6} , Dan Spiegelman _{2,

6} , Ronald B Postuma _{2,

6} , Isabelle Arnulf ₇ , Michele T M Hu _{8,

9} , Yves Dauvilliers ₁₀ , Birgit Högl ₁₁ , Ambra Stefani ₁₁ , Christelle Charley Monaca ₁₂ , Giuseppe Plazzi _{13,

14} , Elena Antelmi _{13,

14} , Luigi Ferini-Strambi ₁₅ , Anna Heidbreder ₁₆ , Uladzislau Rudakou _{1,

2} , Valérie Cochen De Cock _{17,

18} , Peter Young ₁₆ , Pavlina Wolf ₁₉ , Petra Oliva ₁₉ , Xiaokui Kate Zhang ₁₉ , Lior Greenbaum _{20,

21,

22} , Christopher Liong ₂₃ , Jean-François Gagnon _{24,

25} , Alex Desautels _{24,

26} , Sharon Hassin-Baer _{22,

23,

27} , Jacques Y Montplaisir _{24,

28} , Nicolas Dupré _{29,

30} , Guy A Rouleau _{1,

2,

6} , Edward A Fon _{2,

6} , Jean-François Trempe ₃₁ , Guillaume Lamoureux _{3,

4,

5,

32,

33} , Roy N Alcalay _{23,

34} , Ziv Gan-Or _{1,

2,

6}

Affiliation

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Department of Physics, Concordia University, Montreal, Quebec, Canada.
Centre for Research in Molecular Modeling (CERMM), Concordia University, Montreal, Quebec, Canada.
PROTEO, The Quebec Network for Research on Protein Function, Engineering and Applications, Quebec, Quebec, Canada.
Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Sleep Disorders Unit, Pitié Salpêtrière Hospital, Institute of Brain and Spinal Cord and Sorbonne University, Paris, France.
Oxford Parkinson's Disease Centre, University of Oxford, Oxford, United Kingdom.
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui de Chauliac Hospital, University Hospital Center Montpellier, University of Montpellier, National Institute of Health and Medical Research U1061, Montpellier, France.
Sleep Disorders Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
University of Lille Nord de France, Department of Clinical Neurophysiology and Sleep Center, University Hospital Center Lille, Lille, France.
Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Scientific Institute for Research and Health Care, Institute of Neurological Sciences of Bologna, Bologna, Italy.
Department of Neurological Sciences, Vita-Salute San Raffaele University, Milan, Italy.
Institute of Sleep Medicine and Neuromuscular Disorders, University of Münster, Münster, Germany.
Sleep and Neurology Unit, Beau Soleil Clinic, Montpellier, France.
EuroMov, University of Montpellier, Montpellier, France.
Biologics Structural and Functional Research, Biopharmaceutics Development, Genzyme, Framingham, MA.
Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY.
Center for Advanced Research in Sleep Medicine, Sacred Heart Hospital of Montreal, Montreal, Quebec, Canada.
Department of Psychology, University of Quebec at Montreal, Montreal, Quebec, Canada.
Department of Neurosciences, University of Quebec at Montreal, Montreal, Quebec, Canada.
The Movement Disorders Institute, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.
Department of Psychiatry, University of Montreal, Montreal, Quebec, Canada.
Division of Neurosciences, University Hospital Center of Quebec, Laval University, Quebec City, Quebec, Canada.
Department of Medicine, Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.
Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada.
Department of Chemistry, Rutgers University - Camden, Camden, NJ, USA.
Center for Computational and Integrative Biology (CCIB), Camden, NY, USA.
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY.

The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome‐wide association studies of Parkinson disease (PD). We aimed to identify the specific disease‐associated variants in this locus, and their potential implications.

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