𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The biology and pathology of the familial Parkinson's disease protein LRRK2

✍ Scribed by William Dauer; Cherry Cheng-Ying Ho

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
75 KB
Volume
25
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Parkinson's disease (PD) is typically a sporadic illness, but the past decade has witnessed the identification of mutations responsible for multiple familial forms of the disease. The proposed functions of some of these genes (e.g., E3 ubiquitin ligase, redox‐dependent chaperone) have led to the hypothesis that dysfunction of protein quality control pathways contributes to PD neurodegeneration. However, the key signaling events that act downstream of misfolded proteins to cause cell death remain poorly defined. The discovery of the familial PD kinase leucine‐rich repeat kinase 2 (LRRK2) holds great promise for the elucidation of signaling events relevant to PD neurodegeneration. This review will summarize current knowledge of the clinical and cell biological features of LRRK2, the most common inherited cause of Parkinsonism. © 2010 Movement Disorder Society

📜 SIMILAR VOLUMES

G2019S LRRK2 mutation in familial and sp
G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia
✍ Sofya N. Pchelina; Andrei F. Yakimovskii; Olga N. Ivanova; Anton K. Emelianov; A 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB

## Abstract Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine‐rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwester

High prevalence of LRRK2 mutations in fa
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
✍ Joaquim J. Ferreira; Leonor Correia Guedes; Mário Miguel Rosa; Miguel Coelho; Ma 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 122 KB 👁 1 views

## Abstract Mutations in the __Leucine‐Rich Repeat Kinase 2__ (__LRRK2__) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent __LRRK2__ mutations (R1441

Comprehensive sequencing of the LRRK2 ge
Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa
✍ Barbara Jasinska-Myga; Jennifer Kachergus; Carles Vilariño-Güell; Christian Wide 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB

## Abstract The __LRRK2__ gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of __LRRK2__ variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the __LRRK2__ gene in 92 Tunisian probands with famili

Pathogenicity of the Lrrk2 R1514Q substi
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
✍ Mathias Toft; Ignacio F. Mata; Owen A. Ross; Jennifer Kachergus; Mary M. Hulihan 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

## Abstract An increasing number of nonsynonymous __LRRK2__ variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control serie