SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease-Reference-Cited by-同舟云学术

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

Published:2019-02-20 Issue:4 Volume:34 Page:526-535
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Alcalay Roy N.¹²,Mallett Victoria³,Vanderperre Benoît⁴,Tavassoly Omid⁴,Dauvilliers Yves⁵,Wu Richard Y.J.³⁶,Ruskey Jennifer A.³⁷,Leblond Claire S.³⁸,Ambalavanan Amirthagowri³⁸,Laurent Sandra B.³⁷,Spiegelman Dan³⁷,Dionne-Laporte Alexandre³⁷,Liong Christopher¹,Levy Oren A.¹,Fahn Stanley¹,Waters Cheryl¹,Kuo Sheng-Han¹,Chung Wendy K.⁹¹⁰,Ford Blair¹,Marder Karen S.¹,Kang Un Jung¹,Hassin-Baer Sharon¹¹¹²¹³,Greenbaum Lior¹¹¹⁴¹⁵,Trempe Jean-Francois¹⁶,Wolf Pavlina¹⁷,Oliva Petra¹⁷,Zhang Xiaokui Kate¹⁷,Clark Lorraine N.²¹⁸¹⁹,Langlois Melanie²⁰²¹,Dion Patrick A.³⁷,Fon Edward A.⁴,Dupre Nicolas²⁰²¹,Rouleau Guy A.³⁷⁸,Gan-Or Ziv³⁷⁸^ORCID

Affiliation:

1. Department of Neurology, College of Physicians and Surgeons; Columbia University; New York NY USA

2. Taub Institute for Research on Alzheimer's Disease and the Aging Brain; Columbia University; New York NY USA

3. Montreal Neurological Institute, McGill University; Montréal QC Canada

4. McGill Parkinson Program and Neurodegenerative Diseases Group; Montreal Neurological Institute, McGill University; Montréal QC Canada

5. Sleep Unit, National Reference Network for Narcolepsy, Department of Neurology Hôpital-Gui-de Chauliac; CHU Montpellier; INSERM U1061 France

6. Imperial College School of Medicine; Imperial College London; London United Kingdom

7. Department of Neurology and Neurosurgery; McGill University; Montréal QC Canada

8. Department of Human Genetics; McGill University; Montréal QC Canada

9. Department of Medicine, College of Physicians and Surgeons; Columbia University; New York NY USA

10. Department of Pediatrics, College of Physicians and Surgeons; Columbia University; New York NY USA

11. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

12. Department of Neurology; Sheba Medical Center; Tel Hashomer Israel

13. Movement Disorders Institute; Sheba Medical Center; Tel Hashomerf Israel

14. The Danek Gertner Institute of Human Genetics; Sheba Medical Center; Tel Hashomer Israel

15. The Joseph Sagol Neuroscience Center; Sheba Medical Center; Tel Hashomer Israel

16. Department of Pharmacology & Therapeutics; McGill University; Montréal Québec Canada

17. Translational Science, Sanofi; Framingham MA USA

18. Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology; Columbia University; New York NY USA

19. Department of Pathology and Cell Biology; Columbia University; New York NY USA

20. Axe neurosciences du CHU de Québec - Université Laval; Québec QC Canada

21. Faculty of Medicine, Department of Medicine; Laval University; Québec QC Canada

Funder

Brookdale Foundation

Canadian Consortium om Neurodegeneration in Aging (CCNA)

Canadian Institutes of Health Research

Fonds de Recherche du Québec - Santé

Michael J. Fox Foundation for Parkinson's Research

National Institutes of Health

Parkinson's Disease Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.27642/fullpdf

Reference33 articles.

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2. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy;Cuervo;Science,2004

3. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations;Alcalay;Brain,2015

4. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease;Clark;Neurology,2007

5. Differential effects of severe vs mild GBA mutations on Parkinson disease;Gan-Or;Neurology,2015

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