Novel PINK1 mutations in early-onset parkinsonism.

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

PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. PLoS Biol (2007) 3.86

Impaired dopamine release and synaptic plasticity in the striatum of PINK1-deficient mice. Proc Natl Acad Sci U S A (2007) 3.50

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat (2010) 2.29

Antioxidants protect PINK1-dependent dopaminergic neurons in Drosophila. Proc Natl Acad Sci U S A (2006) 2.08

Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci Transl Med (2012) 1.99

The genetics of Parkinson disease. J Geriatr Psychiatry Neurol (2010) 1.69

Perturbations in mitochondrial dynamics induced by human mutant PINK1 can be rescued by the mitochondrial division inhibitor mdivi-1. J Biol Chem (2010) 1.65

Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. J Neurochem (2009) 1.52

The PINK1/Parkin pathway regulates mitochondrial dynamics and function in mammalian hippocampal and dopaminergic neurons. Hum Mol Genet (2011) 1.44

PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease. PLoS One (2009) 1.30

Biology of mitochondria in neurodegenerative diseases. Prog Mol Biol Transl Sci (2012) 1.22

Genes associated with Parkinson syndrome. J Neurol (2008) 1.21

Unveiling clusters of RNA transcript pairs associated with markers of Alzheimer's disease progression. PLoS One (2012) 1.18

Long non-coding RNA and alternative splicing modulations in Parkinson's leukocytes identified by RNA sequencing. PLoS Comput Biol (2014) 1.15

Mitochondrial and Cell Death Mechanisms in Neurodegenerative Diseases. Pharmaceuticals (Basel) (2010) 1.13

Congenital disease SNPs target lineage specific structural elements in protein kinases. Proc Natl Acad Sci U S A (2008) 1.11

Mitochondrial contribution to Parkinson's disease pathogenesis. Parkinsons Dis (2011) 1.10

Tickled PINK1: mitochondrial homeostasis and autophagy in recessive Parkinsonism. Biochim Biophys Acta (2009) 1.09

Genetics and genomics of Parkinson's disease. Genome Med (2014) 1.04

GBA server: EST-based digital gene expression profiling. Nucleic Acids Res (2005) 1.01

Transgenic rodent models of Parkinson's disease. Acta Neurochir Suppl (2008) 0.99

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. Nucleic Acids Res (2007) 0.94

Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila. J Biol Chem (2013) 0.94

Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations. J Neurol Neurosurg Psychiatry (2007) 0.94

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol (2008) 0.91

Progress in the pathogenesis and genetics of Parkinson's disease. Philos Trans R Soc Lond B Biol Sci (2008) 0.91

α-Synuclein and mitochondrial dysfunction in Parkinson's disease. Mol Neurobiol (2013) 0.91

The impact of genetic research on our understanding of Parkinson's disease. Prog Brain Res (2010) 0.90

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease. Neurobiol Aging (2015) 0.88

Mitochondrial Dysfunction in Parkinson's Disease. Exp Neurobiol (2015) 0.88

PINK1 mutation heterozygosity and the risk of Parkinson's disease. J Neurol Neurosurg Psychiatry (2007) 0.88

Cross-talk between mitochondria and proteasome in Parkinson's disease pathogenesis. Front Aging Neurosci (2010) 0.88

Unfolded protein stress in the endoplasmic reticulum and mitochondria: a role in neurodegeneration. Front Aging Neurosci (2012) 0.87

Role of p53 in neurodegenerative diseases. Neurodegener Dis (2011) 0.86

Mitochondrial permeability transition pore regulates Parkinson's disease development in mutant α-synuclein transgenic mice. Neurobiol Aging (2013) 0.86

Transgenic animal models of neurodegeneration based on human genetic studies. J Neural Transm (Vienna) (2010) 0.85

PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies. J Neurol (2007) 0.84

Ceramide induced mitophagy and tumor suppression. Biochim Biophys Acta (2015) 0.84

Targeting the progression of Parkinson's disease. Curr Neuropharmacol (2009) 0.82

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. J Neurol (2008) 0.82

Population genetic approaches to neurological disease: Parkinson's disease as an example. Philos Trans R Soc Lond B Biol Sci (2005) 0.82

Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. J Neurol (2010) 0.82

Parkin and mitophagy in cancer. Oncogene (2016) 0.81

The many faces of mitochondrial autophagy: making sense of contrasting observations in recent research. Int J Cell Biol (2012) 0.81

Huntingtin protein is essential for mitochondrial metabolism, bioenergetics and structure in murine embryonic stem cells. Dev Biol (2014) 0.80

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism. BMC Neurol (2008) 0.80

Brain region specific mitophagy capacity could contribute to selective neuronal vulnerability in Parkinson's disease. Proteome Sci (2011) 0.80

Genetic mutations and mitochondrial toxins shed new light on the pathogenesis of Parkinson's disease. Parkinsons Dis (2011) 0.79

Ubiquitin phosphorylation in Parkinson's disease: Implications for pathogenesis and treatment. Transl Neurodegener (2016) 0.77

Differential submitochondrial localization of PINK1 as a molecular switch for mediating distinct mitochondrial signaling pathways. Cell Signal (2015) 0.77

Mitochondrial and cytosolic roles of PINK1 shape induced regulatory T-cell development and function. Eur J Immunol (2013) 0.75

The effects of variants in the PARK2 (parkin), PINK1, and PARK7 (DJ-1) genes along with evidence for their pathogenicity. Curr Protein Pept Sci (2016) 0.75

Parkinson's disease: genetics and beyond. Curr Neuropharmacol (2007) 0.75

Investigation of Long Non-coding RNA Expression Profiles in the Substantia Nigra of Parkinson's Disease. Cell Mol Neurobiol (2016) 0.75

Clinical features and outcome of patients with non-small-cell lung cancer who harbor EML4-ALK. J Clin Oncol (2009) 15.23

Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst (2005) 13.00

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet (2009) 8.11

The Genomes of Oryza sativa: a history of duplications. PLoS Biol (2005) 7.67

PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. J Cell Biol (2010) 7.62

Integrative annotation of 21,037 human genes validated by full-length cDNA clones. PLoS Biol (2004) 7.17

A draft sequence for the genome of the domesticated silkworm (Bombyx mori). Science (2004) 6.62

The medaka draft genome and insights into vertebrate genome evolution. Nature (2007) 5.77

The impact of human EGFR kinase domain mutations on lung tumorigenesis and in vivo sensitivity to EGFR-targeted therapies. Cancer Cell (2006) 5.34

A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms. Nature (2004) 5.24

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

Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. N Engl J Med (2011) 5.13

Genome sequence of the ultrasmall unicellular red alga Cyanidioschyzon merolae 10D. Nature (2004) 5.08

DMY is a Y-specific DM-domain gene required for male development in the medaka fish. Nature (2002) 4.73

Presence of epidermal growth factor receptor gene T790M mutation as a minor clone in non-small cell lung cancer. Cancer Res (2006) 4.72

BIM mediates EGFR tyrosine kinase inhibitor-induced apoptosis in lung cancers with oncogenic EGFR mutations. PLoS Med (2007) 4.50

Role of TBX1 in human del22q11.2 syndrome. Lancet (2003) 4.45

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27

Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26

Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Cancer Res (2005) 4.25

Differential effects of gefitinib and cetuximab on non-small-cell lung cancers bearing epidermal growth factor receptor mutations. J Natl Cancer Inst (2005) 4.19

Interleukin-22, a member of the IL-10 subfamily, induces inflammatory responses in colonic subepithelial myofibroblasts. Gastroenterology (2005) 3.65

Identification of eight members of the Argonaute family in the human genome. Genomics (2003) 3.55

Diagnostic procedures for Parkinson's disease dementia: recommendations from the movement disorder society task force. Mov Disord (2007) 3.48

Acquired resistance to epidermal growth factor receptor tyrosine kinase inhibitors in non-small-cell lung cancers dependent on the epidermal growth factor receptor pathway. Clin Lung Cancer (2009) 3.37

LTRPC2 Ca2+-permeable channel activated by changes in redox status confers susceptibility to cell death. Mol Cell (2002) 3.36

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36

Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res (2004) 3.34

A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes. Proc Natl Acad Sci U S A (2002) 3.20

The relationship between epidermal growth factor receptor mutations and clinicopathologic features in non-small cell lung cancers. Clin Cancer Res (2005) 3.11

CSF concentration of the anaplastic lymphoma kinase inhibitor crizotinib. J Clin Oncol (2011) 3.00

A unified nomenclature for the superfamily of TRP cation channels. Mol Cell (2002) 2.99

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. Ann Neurol (2008) 2.95

p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria. Genes Cells (2010) 2.91

PINK1-mediated phosphorylation of the Parkin ubiquitin-like domain primes mitochondrial translocation of Parkin and regulates mitophagy. Sci Rep (2012) 2.60

Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro. J Biol Chem (2005) 2.60

PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria. Nat Commun (2012) 2.55

EGFR exon 20 insertion mutations in non-small-cell lung cancer: preclinical data and clinical implications. Lancet Oncol (2011) 2.47

Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nat Neurosci (2008) 2.35

A toxic monomeric conformer of the polyglutamine protein. Nat Struct Mol Biol (2007) 2.33

Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness. Cell Stem Cell (2013) 2.32

Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics (2005) 2.31

Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology (2012) 2.18

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue. Mol Brain (2012) 2.18

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics (2006) 2.10

LRRK2 regulates synaptic vesicle endocytosis. Exp Cell Res (2008) 2.09

Parkinson disease: diagnostic utility of diffusion kurtosis imaging. Radiology (2011) 2.08

Sept4, a component of presynaptic scaffold and Lewy bodies, is required for the suppression of alpha-synuclein neurotoxicity. Neuron (2007) 2.08

Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol (2008) 2.04

Combined vascular endothelial growth factor receptor and epidermal growth factor receptor (EGFR) blockade inhibits tumor growth in xenograft models of EGFR inhibitor resistance. Clin Cancer Res (2009) 2.04

The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Genome Res (2002) 2.03

Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress. Hum Mol Genet (2004) 2.02

Smoke exposure, histologic type and geography-related differences in the methylation profiles of non-small cell lung cancer. Int J Cancer (2003) 2.01

Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria. PLoS Genet (2012) 2.01

Parkin binds the Rpn10 subunit of 26S proteasomes through its ubiquitin-like domain. EMBO Rep (2003) 2.01

Effects of erlotinib in EGFR mutated non-small cell lung cancers with resistance to gefitinib. Clin Cancer Res (2008) 2.00

Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol (2009) 2.00

Gradient echo T2*-weighted magnetic resonance imaging revealing cerebral microbleeds in a patient with microscopic polyangiitis complicated by cerebrovascular disease. J Stroke Cerebrovasc Dis (2011) 1.99

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet (2009) 1.96

Preoperative localization of small pulmonary lesions with a short hook wire and suture system: experience with 168 procedures. Radiology (2002) 1.96

Hsp90 inhibition suppresses mutant EGFR-T790M signaling and overcomes kinase inhibitor resistance. Cancer Res (2008) 1.95

Absence of the candidate male sex-determining gene dmrt1b(Y) of medaka from other fish species. Curr Biol (2003) 1.92

DNA sequence and analysis of human chromosome 8. Nature (2006) 1.91

Detection of EGFR gene mutation in lung cancer by mutant-enriched polymerase chain reaction assay. Clin Cancer Res (2006) 1.91

Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90

Parkin stabilizes PINK1 through direct interaction. Biochem Biophys Res Commun (2009) 1.89

Relationship of phosphorylated alpha-synuclein and tau accumulation to Abeta deposition in the cerebral cortex of dementia with Lewy bodies. Exp Neurol (2007) 1.89

Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms. Ann Neurol (2002) 1.87

Pooled analysis of the prospective trials of gefitinib monotherapy for EGFR-mutant non-small cell lung cancers. Lung Cancer (2007) 1.87

XAGE-1 expression in non-small cell lung cancer and antibody response in patients. Clin Cancer Res (2005) 1.87

Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet (2006) 1.83

Caffeine induces apoptosis by enhancement of autophagy via PI3K/Akt/mTOR/p70S6K inhibition. Autophagy (2011) 1.81

PINK1 is recruited to mitochondria with parkin and associates with LC3 in mitophagy. FEBS Lett (2010) 1.79

Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Biochem Biophys Res Commun (2003) 1.77

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. Am J Hum Genet (2003) 1.71

Draft genome of the pearl oyster Pinctada fucata: a platform for understanding bivalve biology. DNA Res (2012) 1.69