Published in Nat Genet on September 10, 2006
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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet (2011) 5.01
Genetic animal models of Parkinson's disease. Neuron (2010) 3.86
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet (2010) 3.77
Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. Nat Genet (2009) 3.59
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Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. J Clin Invest (2009) 3.17
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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet (2012) 1.41
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Elevated alpha-synuclein mRNA levels in individual UV-laser-microdissected dopaminergic substantia nigra neurons in idiopathic Parkinson's disease. Nucleic Acids Res (2008) 1.40
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Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity. J Neurosci (2012) 1.32
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep (2010) 1.28
Lysosomal impairment in Parkinson's disease. Mov Disord (2013) 1.27
Autophagy failure in Alzheimer's disease and the role of defective lysosomal acidification. Eur J Neurosci (2013) 1.27
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Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet (2008) 1.23
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Genes associated with Parkinson syndrome. J Neurol (2008) 1.21
Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2. Biochem Biophys Res Commun (2009) 1.21
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One (2012) 1.20
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Curr Neuropharmacol (2013) 1.20
Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein. J Biol Chem (2011) 1.19
Rapid selection of cyclic peptides that reduce alpha-synuclein toxicity in yeast and animal models. Nat Chem Biol (2009) 1.19
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep (2013) 1.18
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity. Hum Mol Genet (2012) 1.15
iPS cell technologies: significance and applications to CNS regeneration and disease. Mol Brain (2014) 1.14
Redox reactions induced by nitrosative stress mediate protein misfolding and mitochondrial dysfunction in neurodegenerative diseases. Mol Neurobiol (2010) 1.13
Mitochondrial and Cell Death Mechanisms in Neurodegenerative Diseases. Pharmaceuticals (Basel) (2010) 1.13
PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity. Hum Mol Genet (2011) 1.11
Abnormal localization of leucine-rich repeat kinase 2 to the endosomal-lysosomal compartment in lewy body disease. J Neuropathol Exp Neurol (2009) 1.11
Genetic neuropathology of Parkinson's disease. Int J Clin Exp Pathol (2008) 1.11
Macroautophagy deficiency mediates age-dependent neurodegeneration through a phospho-tau pathway. Mol Neurodegener (2012) 1.10
Tickled PINK1: mitochondrial homeostasis and autophagy in recessive Parkinsonism. Biochim Biophys Acta (2009) 1.09
Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysis. Am J Epidemiol (2009) 1.08
Atp13a2 expression in the periaqueductal gray is decreased in the Pink1 -/- rat model of Parkinson disease. Neurosci Lett (2016) 1.08
Autophagy and neuronal cell death in neurological disorders. Cold Spring Harb Perspect Biol (2012) 1.08
Disruption of protein quality control in Parkinson's disease. Cold Spring Harb Perspect Med (2012) 1.07
Protein degradation pathways in Parkinson's disease: curse or blessing. Acta Neuropathol (2012) 1.07
The divalent metal transporter homologues SMF-1/2 mediate dopamine neuron sensitivity in caenorhabditis elegans models of manganism and parkinson disease. J Biol Chem (2009) 1.07
Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria? Genes Brain Behav (2007) 1.07
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics (2010) 1.06
ATP13A2 regulates mitochondrial bioenergetics through macroautophagy. Neurobiol Dis (2011) 1.06
Immunotherapy for neurodegenerative diseases: focus on α-synucleinopathies. Pharmacol Ther (2013) 1.06
ATP13A2 variability in Parkinson disease. Hum Mutat (2009) 1.05
Oxidative modifications, mitochondrial dysfunction, and impaired protein degradation in Parkinson's disease: how neurons are lost in the Bermuda triangle. Mol Neurodegener (2009) 1.05
Genetics and genomics of Parkinson's disease. Genome Med (2014) 1.04
Toxin-induced and genetic animal models of Parkinson's disease. Parkinsons Dis (2010) 1.04
Drosophila as a model to study mitochondrial dysfunction in Parkinson's disease. Cold Spring Harb Perspect Med (2012) 1.04
Different 8-hydroxyquinolines protect models of TDP-43 protein, α-synuclein, and polyglutamine proteotoxicity through distinct mechanisms. J Biol Chem (2011) 1.04
Identification of TMEM230 mutations in familial Parkinson's disease. Nat Genet (2016) 1.02
Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet (2014) 1.02
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet (2011) 1.02
Structural effects of Parkinson's disease linked DJ-1 mutations. Protein Sci (2008) 1.02
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction. Hum Mol Genet (2014) 1.01
Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease. Mol Neurodegener (2010) 1.00
VPS41, a protein involved in lysosomal trafficking, is protective in Caenorhabditis elegans and mammalian cellular models of Parkinson's disease. Neurobiol Dis (2009) 1.00
S-nitrosylation of critical protein thiols mediates protein misfolding and mitochondrial dysfunction in neurodegenerative diseases. Antioxid Redox Signal (2011) 1.00
Molecular basis for the structural instability of human DJ-1 induced by the L166P mutation associated with Parkinson's disease. Biochemistry (2008) 1.00
A mitocentric view of Parkinson's disease. Annu Rev Neurosci (2014) 0.99
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. Hum Mol Genet (2011) 0.99
Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits. Hum Mol Genet (2013) 0.99
Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders. Front Mol Neurosci (2014) 0.98
Mitochondrial kinases in Parkinson's disease: converging insights from neurotoxin and genetic models. Mitochondrion (2009) 0.98
Interactions of iron, dopamine and neuromelanin pathways in brain aging and Parkinson's disease. Prog Neurobiol (2015) 0.97
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. Neuropathol Appl Neurobiol (2015) 0.96
Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation. Hum Mol Genet (2013) 0.96
Genetics and epigenetics of Parkinson's disease. ScientificWorldJournal (2012) 0.95
Overexpression of parkin ameliorates dopaminergic neurodegeneration induced by 1- methyl-4-phenyl-1,2,3,6-tetrahydropyridine in mice. PLoS One (2012) 0.95
Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities. Antioxid Redox Signal (2013) 0.94
Impaired intracellular trafficking defines early Parkinson's disease. Trends Neurosci (2015) 0.94
The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast. PLoS One (2012) 0.93
Mitochondrial dysfunction in Parkinson's disease. Parkinsons Dis (2011) 0.93
Identification of a novel Parkinson's disease locus via stratified genome-wide association study. BMC Genomics (2014) 0.93
Interplay between the ubiquitin-proteasome system and autophagy in proteinopathies. Int J Physiol Pathophysiol Pharmacol (2009) 0.92
Protective role of endogenous gangliosides for lysosomal pathology in a cellular model of synucleinopathies. Am J Pathol (2009) 0.92
Mitochondrial quality control and dynamics in Parkinson's disease. Antioxid Redox Signal (2011) 0.92
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
Flies without centrioles. Cell (2006) 6.06
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet (2003) 6.03
Unique properties of mesoprefrontal neurons within a dual mesocorticolimbic dopamine system. Neuron (2008) 5.65
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. Nat Med (2012) 4.90
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. Nat Genet (2012) 4.82
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
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A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron (2010) 3.31
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
Low dose oral cannabinoid therapy reduces progression of atherosclerosis in mice. Nature (2005) 3.02
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol (2006) 3.00
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
I(h) channels contribute to the different functional properties of identified dopaminergic subpopulations in the midbrain. J Neurosci (2002) 2.43
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
Loss-of-function mutations in sodium channel Nav1.7 cause anosmia. Nature (2011) 2.31
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet (2009) 2.26
A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics (2008) 2.20
Antifibrogenic role of the cannabinoid receptor CB2 in the liver. Gastroenterology (2005) 2.07
F3/contactin acts as a functional ligand for Notch during oligodendrocyte maturation. Cell (2003) 2.05
Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet (2011) 1.98
Beta-caryophyllene is a dietary cannabinoid. Proc Natl Acad Sci U S A (2008) 1.97
Peripheral cannabinoid receptor, CB2, regulates bone mass. Proc Natl Acad Sci U S A (2006) 1.95
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet (2005) 1.94
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Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
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Pain perception is altered by a nucleotide polymorphism in SCN9A. Proc Natl Acad Sci U S A (2010) 1.79
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (2012) 1.74
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet (2011) 1.71
Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. PLoS One (2009) 1.71
Selective coupling of T-type calcium channels to SK potassium channels prevents intrinsic bursting in dopaminergic midbrain neurons. J Neurosci (2002) 1.66
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Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet (2012) 1.64
Disruption of Trp53 in livers of mice induces formation of carcinomas with bilineal differentiation. Gastroenterology (2012) 1.63
K-ATP channels promote the differential degeneration of dopaminergic midbrain neurons. Nat Neurosci (2005) 1.62
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol (2004) 1.54
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet (2007) 1.52
A SOX9 duplication and familial 46,XX developmental testicular disorder. N Engl J Med (2011) 1.51
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet (2010) 1.50
Elevated alpha-synuclein mRNA levels in individual UV-laser-microdissected dopaminergic substantia nigra neurons in idiopathic Parkinson's disease. Nucleic Acids Res (2008) 1.40
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Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies. Physiol Genomics (2004) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
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Human ASPM participates in spindle organisation, spindle orientation and cytokinesis. BMC Cell Biol (2010) 1.29
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CLCN2 variants in idiopathic generalized epilepsy. Nat Genet (2009) 1.26
K-ATP channels in dopamine substantia nigra neurons control bursting and novelty-induced exploration. Nat Neurosci (2012) 1.24
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet (2010) 1.24
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet (2010) 1.23
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Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2. Biochem Biophys Res Commun (2009) 1.21
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. Hum Mutat (2011) 1.19
A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet (2008) 1.17
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Hum Mutat (2007) 1.17
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Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet (2012) 1.14
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. Am J Med Genet A (2011) 1.13
A53T-alpha-synuclein overexpression impairs dopamine signaling and striatal synaptic plasticity in old mice. PLoS One (2010) 1.13
Cannabinoid receptor type 2 gene is associated with human osteoporosis. Hum Mol Genet (2005) 1.13
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet (2012) 1.13
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet (2011) 1.12
Orexin excites GABAergic neurons of the arcuate nucleus by activating the sodium--calcium exchanger. J Neurosci (2003) 1.12
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A (2010) 1.09
Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat (2013) 1.08
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A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet (2010) 1.08
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet (2003) 1.07