Variant: rs33939927 

    present in Gene: LRRK2
    present in Chromosome: 12
    Position on Chromosome: 40310434
    Alleles of this Variant: C/A;G;T

rs33939927 in LRRK2 gene and PARKINSON DISEASE 8 (disorder) PMID 27111571 2016 The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

PMID 28202711 2017 Structural interface between LRRK2 and 14-3-3 protein.

PMID 28720718 2017 Phosphorylation of amyloid precursor protein by mutant LRRK2 promotes AICD activity and neurotoxicity in Parkinson's disease.

PMID 29212815 2018 Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

PMID 15541309 2004 Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

PMID 16240353 2005 G2019S LRRK2 mutation in French and North African families with Parkinson's disease.

PMID 16333314 2006 Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

PMID 16272257 2005 The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.

PMID 21658387 2011 LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations.

PMID 16533964 2006 LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.

PMID 16250030 2006 Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.

PMID 15726496 2005 Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.

PMID 16157908 2005 LRRK2 mutations in Parkinson disease.

PMID 16750377 2006 Kinase activity is required for the toxic effects of mutant LRRK2/dardarin.

PMID 16298482 2006 LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.

PMID 15680457 2005 A common LRRK2 mutation in idiopathic Parkinson's disease.

PMID 15852371 2005 Clinical features of LRRK2-associated Parkinson's disease in central Norway.

PMID 15732108 2005 Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

PMID 15680455 2005 Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.

PMID 15929036 2005 Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation.

PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 21494637 2011 Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 23241745 2012 Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations.

PMID 16251215 2005 Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

PMID 26824392 2016 Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.

PMID 21538529 2011 The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.

PMID 24565865 2014 Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.

rs33939927 in LRRK2 gene and PARKINSON DISEASE, LATE-ONSET PMID 27111571 2016 The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.