换一批
换一批A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
作者：
Emil K,Gustavsson [1]
;
Jordan,Follett [2]
;
Joanne,Trinh [3]
;
Sandeep K,Barodia [4]
;
Raquel,Real [5]
;
Zhiyong,Liu [4]
;
Melissa,Grant-Peters [6]
;
Jesse D,Fox [7]
;
Silke,Appel-Cresswell [8]
;
A Jon,Stoessl [8]
;
Alex,Rajput [9]
;
Ali H,Rajput [9]
;
Roland,Auer [10]
;
Russel,Tilney [11]
;
Marc,Sturm [12]
;
Tobias B,Haack [12]
;
Suzanne,Lesage [13]
;
Christelle,Tesson [13]
;
Alexis,Brice [14]
;
Carles,Vilariño-Güell [15]
;
Mina,Ryten [16]
;
Matthew S,Goldberg [4]
;
Andrew B,West [17]
;
Michele T,Hu [18]
;
Huw R,Morris [5]
;
Manu,Sharma [19]
;
Ziv,Gan-Or [20]
;
Bedia,Samanci [21]
;
Pawel,Lis [22]
;
Teresa,Tocino [23]
;
Rim,Amouri [24]
;
Samia Ben,Sassi [24]
;
Faycel,Hentati [24]
;
Global Parkinson’s Genetics Program (GP2) [22]
;
Francesca,Tonelli [22]
;
Dario R,Alessi [2]
;
Matthew J,Farrer
作者单位：
Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.;Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.;Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
[1]
McKnight Brain Institute, Department of Neurology, University of Florida, Gainesville, Florida, USA.;Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
[2]
Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, Lübeck 23538, Germany.;Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
[3]
Department of Neurology, Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA.
[4]
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.;UCL Movement Disorders Centre, University College London, London WC1N 3BG, UK.;Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
[5]
Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.;MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.
[6]
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
[7]
Pacific Parkinson's Research Centre, Djavad Mowafaghian Centre for Brain Health, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.
[8]
Movement Disorders Program, Division of Neurology, University of Saskatchewan and Saskatchewan Health Authority, Saskatoon, SK, Canada.
[9]
Department of Pathology, University of Saskatchewan and Saskatchewan Health Authority, Saskatoon, SK, Canada.
[10]
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.;UCL Movement Disorders Centre, University College London, London WC1N 3BG, UK.
[11]
Institute for Medical Genetics and Applied Genomics, University of Tübingen, Germany.
[12]
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.
[13]
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.;Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Neurologie, Centre d'Investigation Clinique Neurosciences, DMU Neuroscience, Paris, France.
[14]
Department of Medical Genetics, University of British Columbia, Vancouver V6T 1Z3, Canada.
[15]
Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.;NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.;Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
[16]
Duke Center for Neurodegeneration and Neurotherapeutics, Department of Pharmacology and Cancer Biology, Duke University, 3 Genome Court, Durham 27710, North Carolina, USA.
[17]
Division of Neurology, Nuffield Department of Clinical Neurosciences, University of Oxford, UK.
[18]
Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Germany.
[19]
The Neuro (Montreal Neurological Institute-Hospital), Montreal, Quebec, Canada.;Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.;Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
[20]
Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
[21]
MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.;Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
[22]
Queen Mary College, University of London, UK.
[23]
Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia.
[24]
DOI
10.1101/2024.01.17.24300927
PMID
38293014
发布时间
2024-10-23
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medRxiv
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