[HTML][HTML] Metabolomic Profiling in LRRK2-Related Parkinson's Disease

KK Johansen, L Wang, JO Aasly, LR White… - PLoS one, 2009 - journals.plos.org
Background Mutations in LRRK2 gene represent the most common known genetic cause of
Parkinson's disease (PD). Methodology/Principal Findings We used metabolomic profiling to …

[HTML][HTML] Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4

C Libioulle, E Louis, S Hansoul, C Sandor… - PLoS …, 2007 - journals.plos.org
To identify novel susceptibility loci for Crohn disease (CD), we undertook a genome-wide
association study with more than 300,000 SNPs characterized in 547 patients and 928 …

[HTML][HTML] Divergent effects of G2019S and R1441C LRRK2 mutations on LRRK2 and Rab10 phosphorylations in mouse tissues

L Iannotta, A Biosa, JH Kluss, G Tombesi… - Cells, 2020 - mdpi.com
Mutations in LRRK2 cause familial Parkinson's disease and common variants increase
disease risk. LRRK2 kinase activity and cellular localization are tightly regulated by …

[HTML][HTML] Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

C Manzoni, A Mamais, S Dihanich, P McGoldrick… - Biochemical and …, 2013 - Elsevier
LRRK2 is one of the most important genetic contributors to Parkinson's disease (PD). Point
mutations in this gene cause an autosomal dominant form of PD, but to date no cellular …

[HTML][HTML] Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

MA Rivas, BE Avila, J Koskela, H Huang… - PLoS …, 2018 - journals.plos.org
As part of a broader collaborative network of exome sequencing studies, we developed a
jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a …

LRRK2: a common pathway for parkinsonism, pathogenesis and prevention?

JP Taylor, IF Mata, MJ Farrer - Trends in molecular medicine, 2006 - cell.com
The presence of α-synuclein Lewy body pathology is used to distinguish Parkinson's
disease from parkinsonism, for which a broader spectrum of neuropathologies, including tau …

[HTML][HTML] A Comprehensive Analysis of Population Differences in LRRK2 Variant Distribution in Parkinson's Disease

L Shu, Y Zhang, Q Sun, H Pan, B Tang - Frontiers in Aging …, 2019 - frontiersin.org
Background: LRRK2 variants have been demonstrated to have distinct distributions in
different populations. However, researchers have thus far chosen to focus on relatively few …

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

MJ Farrer, JT Stone, CH Lin, JC Dächsel… - Parkinsonism & related …, 2007 - Elsevier
The goal of genetic association studies is to identify common (> 5%) risk factors in complex
disease traits. Herein we describe the first replicable 'functional'risk allele for Parkinson's …

LRRK2, a puzzling protein: insights into Parkinson's disease pathogenesis

AR Esteves, RH Swerdlow, SM Cardoso - Experimental neurology, 2014 - Elsevier
Leucine-rich repeat kinase 2 (LRRK2) is a large, ubiquitous protein of unknown function.
Mutations in the gene encoding LRRK2 have been linked to familial and sporadic …

[HTML][HTML] Impaired inflammatory responses in murine Lrrk2-knockdown brain microglia

B Kim, MS Yang, D Choi, JH Kim, HS Kim, W Seol… - PloS one, 2012 - journals.plos.org
LRRK2, a Parkinson's disease associated gene, is highly expressed in microglia in addition
to neurons; however, its function in microglia has not been evaluated. Using Lrrk2 …