Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus-Reference-Cited by-同舟云学术

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Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus

Published:2018-10-09 Issue:11 Volume:33 Page:1821-1823
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Blauwendraat Cornelis¹,Bras Jose M.²,Nalls Mike A.²³,Lewis Patrick A.⁴⁵,Hernandez Dena G.¹,Singleton Andrew B.¹,

Affiliation:

1. Laboratory of Neurogenetics, National Institute on Aging; Bethesda Maryland USA

2. UK Dementia Research Institute at UCL and Department of Molecular Neuroscience; UCL Institute of Neurology; Queen Square London UK

3. Founder/consultant with Data Tecnica International; Glen Echo Maryland USA

4. School of Pharmacy; University of Reading; Reading UK

5. Department of Molecular Neuroscience; UCL Institute of Neurology; Queen Square London UK

Funder

National Institute of Neurological Disorders and Stroke

National Institute on Aging

National Institutes of Health

U.S. Department of Health and Human Services

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.103/fullpdf

Reference6 articles.

1. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease;Sidransky;N Engl J Med,2009

2. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews;Aharon-Peretz;N Engl J Med,2004

3. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases;Nalls;Neurobiol Aging,2015

4. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease;Nalls;Nat Genet,2014

5. Activation of β-glucocerebrosidase reduces pathological α-synuclein and restores lysosomal function in Parkinson's patient midbrain neurons;Mazzulli;J Neurosci,2016

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1. IsGBA1T369M not a risk factor for Parkinson’s disease in the Swedish population?;2024-03-16

2. Role of GBA variants in Lewy body disease neuropathology;Acta Neuropathologica;2024-03-12

3. Clinical prediction of GBA carrier status in Parkinson’s disease;Clinical Parkinsonism & Related Disorders;2024

4. A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene;npj Parkinson's Disease;2023-04-05

5. WHOPPA Enables Parallel Assessment of Leucine-Rich Repeat Kinase 2 and Glucocerebrosidase Enzymatic Activity in Parkinson’s Disease Monocytes;Frontiers in Cellular Neuroscience;2022-06-09

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