A heterozygous effect for PINK1 mutations in Parkinson's disease?

PubWeight™: 1.61‹?› | Rank: Top 4%

🔗 View Article (PMID 16969854)

Published in Ann Neurol on October 01, 2006

Authors

Patrick M Abou-Sleiman1, Miratul M K Muqit, Neil Q McDonald, Yan Xiang Yang, Sonia Gandhi, Daniel G Healy, Kirsten Harvey, Robert J Harvey, Emma Deas, Kailash Bhatia, Niall Quinn, Andrew Lees, David S Latchman, Nicholas W Wood

Author Affiliations

1: Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom.

Articles citing this

PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol (2010) 11.85

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01

Mitochondrial import and accumulation of alpha-synuclein impair complex I in human dopaminergic neuronal cultures and Parkinson disease brain. J Biol Chem (2008) 2.53

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology (2007) 2.41

PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons. PLoS One (2008) 2.33

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

Characterization of PINK1 processing, stability, and subcellular localization. J Neurochem (2008) 2.29

Autophagy and the degradation of mitochondria. Mitochondrion (2010) 1.75

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

Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genet (2010) 1.21

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. J Med Genet (2009) 1.19

Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease. Nat Cell Biol (2014) 1.15

PINK1 function in health and disease. EMBO Mol Med (2009) 1.14

Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria? Genes Brain Behav (2007) 1.07

The role of PTEN-induced kinase 1 in mitochondrial dysfunction and dynamics. Int J Biochem Cell Biol (2009) 1.05

A critical evaluation of the ubiquitin-proteasome system in Parkinson's disease. Biochim Biophys Acta (2009) 1.02

PINK1 mutations and parkinsonism. Neurology (2008) 0.98

Mitochondrial quality control and neurological disease: an emerging connection. Expert Rev Mol Med (2010) 0.98

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

Mitochondrial medicine for neurodegenerative diseases. Int J Biochem Cell Biol (2010) 0.93

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics (2007) 0.92

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges. Front Immunol (2013) 0.89

Mitochondrial Dysfunction and α-Synuclein Synaptic Pathology in Parkinson's Disease: Who's on First? Parkinsons Dis (2015) 0.86

The effects of morphine on Parkinson's-related genes PINK1 and PARK2. Med Sci Monit Basic Res (2014) 0.86

P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population. Behav Brain Funct (2013) 0.84

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. J Neurol (2008) 0.83

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

Parkinson's Disease in Saudi Patients: A Genetic Study. PLoS One (2015) 0.80

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism. Brain (2016) 0.79

Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients. J Neural Transm (Vienna) (2011) 0.79

Early exposure to paraquat sensitizes dopaminergic neurons to subsequent silencing of PINK1 gene expression in mice. Int J Biol Sci (2011) 0.78

Genetics of Parkinson's disease - a clinical perspective. J Mov Disord (2012) 0.78

Impact of Chemoradiotherapy on CSF Leak Repair after Skull Base Surgery. J Neurol Surg B Skull Base (2014) 0.77

Physiology versus pathology in Parkinson's disease. Proc Natl Acad Sci U S A (2007) 0.77

Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's disease. Neurol Res Int (2010) 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

Accurate zygote-specific discrimination of single-nucleotide polymorphisms using microfluidic electrochemical DNA melting curves. Angew Chem Int Ed Engl (2014) 0.75

Articles by these authors

Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron (2004) 13.99

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23

Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. Mov Disord (2008) 9.52

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10

Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44

Clinical diagnostic criteria for dementia associated with Parkinson's disease. Mov Disord (2007) 6.92

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76

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

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet (2011) 5.56

Non-motor symptoms of Parkinson's disease: diagnosis and management. Lancet Neurol (2006) 5.40

Phenomenology and classification of dystonia: a consensus update. Mov Disord (2013) 4.98

Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci (2006) 4.87

The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat Cell Biol (2007) 4.60

Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Am J Hum Genet (2003) 4.58

Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord (2003) 4.56

Rivastigmine for dementia associated with Parkinson's disease. N Engl J Med (2004) 4.56

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet (2010) 4.42

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01

Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Process, format, and clinimetric testing plan. Mov Disord (2007) 3.86

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80

Degradation of DIAP1 by the N-end rule pathway is essential for regulating apoptosis. Nat Cell Biol (2003) 3.56

Deep brain stimulation plus best medical therapy versus best medical therapy alone for advanced Parkinson's disease (PD SURG trial): a randomised, open-label trial. Lancet Neurol (2010) 3.56

SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55

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

PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65. Open Biol (2012) 3.42

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet (2012) 3.40

Direct observation of the interconversion of normal and toxic forms of α-synuclein. Cell (2012) 3.39

GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization. Science (2004) 3.38

Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl J Med (2003) 3.37

Parkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65. Biochem J (2014) 3.35

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34

Disruption of methylarginine metabolism impairs vascular homeostasis. Nat Med (2007) 3.28

PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell (2009) 3.17

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics (2012) 3.10

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell (2007) 3.06

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03

A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS. J Physiol (2008) 3.00

Efficacy of pramipexole and transdermal rotigotine in advanced Parkinson's disease: a double-blind, double-dummy, randomised controlled trial. Lancet Neurol (2007) 2.99

Potent and selective inhibition of human cytomegalovirus replication by 1263W94, a benzimidazole L-riboside with a unique mode of action. Antimicrob Agents Chemother (2002) 2.98

Levodopa in the treatment of Parkinson's disease: current controversies. Mov Disord (2004) 2.90

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88

The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol (2003) 2.80

Anti-NMDA receptor encephalitis: an important differential diagnosis in psychosis. Br J Psychiatry (2011) 2.80

Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet (2008) 2.68

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet (2010) 2.61

A small molecule inhibitor for phosphatase and tensin homologue deleted on chromosome 10 (PTEN). ACS Chem Biol (2006) 2.57

Recognition of an intra-chain tandem 14-3-3 binding site within PKCepsilon. EMBO Rep (2009) 2.55

A single-nucleotide polymorphism tagging set for human drug metabolism and transport. Nat Genet (2004) 2.44

Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin. Neuron (2009) 2.44

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis (2006) 2.42

Parkin disease: a phenotypic study of a large case series. Brain (2003) 2.41

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci U S A (2005) 2.39

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain (2005) 2.38

The syndrome of fixed dystonia: an evaluation of 103 patients. Brain (2004) 2.36

Distinguishing SWEDDs patients with asymmetric resting tremor from Parkinson's disease: a clinical and electrophysiological study. Mov Disord (2010) 2.36

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34

Depression in Parkinson's disease: loss of dopamine and noradrenaline innervation in the limbic system. Brain (2005) 2.34

PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons. PLoS One (2008) 2.33

PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet (2010) 2.30

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol (2012) 2.20

The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations. Brain (2004) 2.20

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. Brain (2003) 2.17