Published in J Neurochem on April 01, 2005
Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia. Invest Ophthalmol Vis Sci (2010) 1.23
Tyrosinase-expressing neuronal cell line as in vitro model of Parkinson's disease. Int J Mol Sci (2010) 0.89
Melanin affinity and its possible role in neurodegeneration. J Neural Transm (Vienna) (2013) 0.86
Human SOD2 modification by dopamine quinones affects enzymatic activity by promoting its aggregation: possible implications for Parkinson's disease. PLoS One (2012) 0.85
The biochemical and cellular basis for nutraceutical strategies to attenuate neurodegeneration in Parkinson's disease. Int J Mol Sci (2011) 0.80
Identification of the minimal melanocyte-specific promoter in the melanocortin receptor 1 gene. J Exp Clin Cancer Res (2008) 0.78
Direct intranigral injection of dopaminochrome causes degeneration of dopamine neurons. Neurosci Lett (2015) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol (2010) 11.85
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Genomewide association studies and human disease. N Engl J Med (2009) 9.05
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet (2010) 8.74
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2006) 7.32
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet (2005) 5.81
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci U S A (2004) 4.76
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet (2008) 4.69
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci U S A (2005) 4.22
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol (2010) 4.19
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2007) 3.93
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol (2013) 3.70
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet (2005) 3.63
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol (2009) 3.62
Genetics of Parkinson's disease and parkinsonism. Ann Neurol (2006) 3.60
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet (2009) 3.38
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron (2013) 3.25
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03
DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy. Hum Mol Genet (2010) 3.00
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol (2007) 2.99
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions. ASN Neuro (2009) 2.85
The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation. J Biol Chem (2008) 2.77
RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways. Proc Natl Acad Sci U S A (2008) 2.76
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron (2002) 2.65
Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J (2003) 2.64
Cytoplasmic Pink1 activity protects neurons from dopaminergic neurotoxin MPTP. Proc Natl Acad Sci U S A (2008) 2.64
Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet (2011) 2.62
Human skin pigmentation: melanocytes modulate skin color in response to stress. FASEB J (2007) 2.62
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet (2009) 2.58
An in vitro model of Parkinson's disease: linking mitochondrial impairment to altered alpha-synuclein metabolism and oxidative damage. J Neurosci (2002) 2.54
The protective role of melanin against UV damage in human skin. Photochem Photobiol (2008) 2.45
The R1441C mutation of LRRK2 disrupts GTP hydrolysis. Biochem Biophys Res Commun (2007) 2.42
Pink1 forms a multiprotein complex with Miro and Milton, linking Pink1 function to mitochondrial trafficking. Biochemistry (2009) 2.38
Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase. Proc Natl Acad Sci U S A (2008) 2.36
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34
The structure of the APPBP1-UBA3-NEDD8-ATP complex reveals the basis for selective ubiquitin-like protein activation by an E1. Mol Cell (2003) 2.25
Mitochondrial alterations in PINK1 deficient cells are influenced by calcineurin-dependent dephosphorylation of dynamin-related protein 1. PLoS One (2009) 2.23
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol (2003) 2.23
Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke (2008) 2.19
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet (2005) 2.17
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. Brain (2003) 2.17
A soluble α-synuclein construct forms a dynamic tetramer. Proc Natl Acad Sci U S A (2011) 2.15
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. J Biol Chem (2003) 2.12
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
Evidence for natural antisense transcript-mediated inhibition of microRNA function. Genome Biol (2010) 2.08
A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet (2005) 2.03
The regulation of skin pigmentation. J Biol Chem (2007) 2.02
Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet (2006) 2.02
Genomic variation in seven Khoe-San groups reveals adaptation and complex African history. Science (2012) 1.99
Physiological factors that regulate skin pigmentation. Biofactors (2009) 1.93
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.93
UV-induced DNA damage and melanin content in human skin differing in racial/ethnic origin. FASEB J (2003) 1.88
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet (2009) 1.87
Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA (2007) 1.87
The chaperone activity of heat shock protein 90 is critical for maintaining the stability of leucine-rich repeat kinase 2. J Neurosci (2008) 1.86
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet (2008) 1.84
Association of cerebrospinal fluid β-amyloid 1-42, T-tau, P-tau181, and α-synuclein levels with clinical features of drug-naive patients with early Parkinson disease. JAMA Neurol (2013) 1.83
Intersecting pathways to neurodegeneration in Parkinson's disease: effects of the pesticide rotenone on DJ-1, alpha-synuclein, and the ubiquitin-proteasome system. Neurobiol Dis (2006) 1.83
Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Am J Hum Genet (2009) 1.81
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging (2008) 1.76