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LRRK2: cause, risk, and mechanism.
J Parkinsons Dis. 2013; 3(2):85-103.JP

Abstract

In 2004 it was first shown that mutations in LRRK2 can cause Parkinson's disease. This initial discovery was quickly followed by the observation that a single particular mutation is a relatively common cause of Parkinson's disease across varied populations. Further genetic investigation has revealed a variety of genetic ties to Parkinson's disease across this gene. These include common alleles with quite broad effects on risk, likely through both alterations at the protein sequence level, and in the context of expression. A great deal of functional characterization of LRRK2 and disease-causing mutations in this protein has occurred over the last 9 years, and considerable progress has been made. Particular attention has been paid to the kinase activity of LRRK2 as a therapeutic target, and while it is no means certain that this is viable target it is likely that this hypothesis will be tested in clinical trials sooner rather than later. We believe that the future goals for LRRK2 research are, while challenging, relatively clear and that the next 10 years of research promises to be perhaps more exciting than the last.

Authors+Show Affiliations

Department of Neurology, Psychiatry, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, NY, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

23938341

Citation

Paisán-Ruiz, Coro, et al. "LRRK2: Cause, Risk, and Mechanism." Journal of Parkinson's Disease, vol. 3, no. 2, 2013, pp. 85-103.
Paisán-Ruiz C, Lewis PA, Singleton AB. LRRK2: cause, risk, and mechanism. J Parkinsons Dis. 2013;3(2):85-103.
Paisán-Ruiz, C., Lewis, P. A., & Singleton, A. B. (2013). LRRK2: cause, risk, and mechanism. Journal of Parkinson's Disease, 3(2), 85-103. https://doi.org/10.3233/JPD-130192
Paisán-Ruiz C, Lewis PA, Singleton AB. LRRK2: Cause, Risk, and Mechanism. J Parkinsons Dis. 2013;3(2):85-103. PubMed PMID: 23938341.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - LRRK2: cause, risk, and mechanism. AU - Paisán-Ruiz,Coro, AU - Lewis,Patrick A, AU - Singleton,Andrew B, PY - 2013/8/14/entrez PY - 2013/8/14/pubmed PY - 2014/6/26/medline SP - 85 EP - 103 JF - Journal of Parkinson's disease JO - J Parkinsons Dis VL - 3 IS - 2 N2 - In 2004 it was first shown that mutations in LRRK2 can cause Parkinson's disease. This initial discovery was quickly followed by the observation that a single particular mutation is a relatively common cause of Parkinson's disease across varied populations. Further genetic investigation has revealed a variety of genetic ties to Parkinson's disease across this gene. These include common alleles with quite broad effects on risk, likely through both alterations at the protein sequence level, and in the context of expression. A great deal of functional characterization of LRRK2 and disease-causing mutations in this protein has occurred over the last 9 years, and considerable progress has been made. Particular attention has been paid to the kinase activity of LRRK2 as a therapeutic target, and while it is no means certain that this is viable target it is likely that this hypothesis will be tested in clinical trials sooner rather than later. We believe that the future goals for LRRK2 research are, while challenging, relatively clear and that the next 10 years of research promises to be perhaps more exciting than the last. SN - 1877-718X UR - https://www.unboundmedicine.com/medline/citation/23938341/LRRK2:_cause_risk_and_mechanism_ L2 - https://content.iospress.com/openurl?genre=article&id=doi:10.3233/JPD-130192 DB - PRIME DP - Unbound Medicine ER -