Genes and parkinsonism (Q35172294)

6 August 2017

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title

Genes and parkinsonism (English)

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6 August 2017

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parkinsonian syndrome

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John Hardy

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6 August 2017

Mark R Cookson

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6 August 2017

Andrew Singleton

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6 August 2017

publication date

1 April 2003

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6 August 2017

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6 August 2017

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6 August 2017

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6 August 2017

page(s)

221-228

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6 August 2017

cites work

Genetics of parkinsonism

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7 January 2021

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7 January 2021

Parkinson's disease: one biochemical pathway to fit all genes?

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7 January 2021

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

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7 January 2021

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

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7 January 2021

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians

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7 January 2021

Genome-wide scan for Parkinson's disease: the GenePD Study

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7 January 2021

Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations

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7 January 2021

Complete genomic screen in Parkinson disease: evidence for multiple genes.

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7 January 2021

Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

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7 January 2021

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

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7 January 2021

Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

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7 January 2021

α-Synuclein in Lewy bodies

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7 January 2021

Polymorphisms of the alpha-synuclein promoter: expression analyses and association studies in Parkinson's disease

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7 January 2021

alpha-synuclein gene haplotypes are associated with Parkinson's disease

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7 January 2021

Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor?

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7 January 2021

Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability

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7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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7 January 2021

Functional association of the parkin gene promoter with idiopathic Parkinson's disease

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7 January 2021

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

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7 January 2021

The ubiquitin pathway in Parkinson's disease

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7 January 2021

Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients

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7 January 2021

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease

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7 January 2021

A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population

1 reference

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7 January 2021

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

1 reference

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7 January 2021

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease

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7 January 2021

A susceptibility locus for Parkinson's disease maps to chromosome 2p13.

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7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

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7 January 2021

Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p

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7 January 2021

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

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7 January 2021

PARK6-linked parkinsonism occurs in several European families

1 reference

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7 January 2021

Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families

1 reference

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7 January 2021

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

1 reference

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7 January 2021

A susceptibility gene for late-onset idiopathic Parkinson's disease

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7 January 2021

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

1 reference

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7 January 2021

Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease

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7 January 2021

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

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7 January 2021

Diagnostic criteria for Parkinson disease

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7 January 2021

Clinical aspects of Parkinson disease

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7 January 2021

Neuropathology of Autonomic Nervous System in Parkinson's Disease

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7 January 2021

Lewy bodies and parkinsonism in families with parkin mutations

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7 January 2021

Complex relationship between Parkin mutations and Parkinson disease

1 reference

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7 January 2021

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

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7 January 2021

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

1 reference

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7 January 2021

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations

1 reference

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7 January 2021

Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease

1 reference

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7 January 2021

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

1 reference

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7 January 2021

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene

1 reference

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7 January 2021

Risk of Parkinson's disease among first-degree relatives: A community-based study

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7 January 2021

The genetics of Parkinson's disease and parkinsonian syndromes

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7 January 2021

A study of familial aggregation of depression, dementia and Parkinson's disease.

1 reference

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7 January 2021

History of dementia and Parkinson's disease in 1st-degree relatives of patients with Alzheimer's disease

1 reference

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7 January 2021

Hereditary form of parkinsonism--dementia

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7 January 2021

Pathology of PD in monozygotic twins with a 20-year discordance interval

1 reference

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7 January 2021

The role of inheritance in sporadic Parkinson's disease: evidence from a longitudinal study of dopaminergic function in twins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.

1 reference

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7 January 2021

Clinical genetic analysis of Parkinson's disease in the Contursi kindred

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7 January 2021

Familial Aggregation of Parkinson's Disease in Iceland

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases

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7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

1 reference

7 January 2021

Parkin's substrates and the pathways leading to neuronal damage

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https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility

1 reference

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7 January 2021

Ubiquitin and the synapse.

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7 January 2021

Ubiquitin enters the new millennium

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7 January 2021

Cell biology. Ubiquitin lives up to its name

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7 January 2021

Degradation of alpha-synuclein by proteasome

1 reference

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7 January 2021

Alpha-synuclein and the Parkinson's disease-related mutant Ala53Thr-alpha-synuclein do not undergo proteasomal degradation in HEK293 and neuronal cells

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

alpha-synuclein metabolism and aggregation is linked to ubiquitin-independent degradation by the proteasome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease

1 reference

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7 January 2021

Inducible expression of mutant alpha-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis

1 reference

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7 January 2021

Expression of A53T mutant but not wild-type alpha-synuclein in PC12 cells induces alterations of the ubiquitin-dependent degradation system, loss of dopamine release, and autophagic cell death.

1 reference

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7 January 2021

Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons

1 reference

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7 January 2021

Rat alpha-synuclein interacts with Tat binding protein 1, a component of the 26S proteasomal complex

1 reference

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7 January 2021

Alpha-synuclein up-regulation in substantia nigra dopaminergic neurons following administration of the parkinsonian toxin MPTP.

1 reference

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7 January 2021

An in vitro model of Parkinson's disease: linking mitochondrial impairment to altered alpha-synuclein metabolism and oxidative damage.

1 reference

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7 January 2021

Chronic systemic pesticide exposure reproduces features of Parkinson's disease

1 reference

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7 January 2021

Resistance of alpha -synuclein null mice to the parkinsonian neurotoxin MPTP.

1 reference

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7 January 2021

Proteasomal function is impaired in substantia nigra in Parkinson's disease

1 reference

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7 January 2021

Proteasome inhibition causes nigral degeneration with inclusion bodies in rats

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7 January 2021

Dopamine-dependent neurotoxicity of alpha-synuclein: a mechanism for selective neurodegeneration in Parkinson disease

1 reference

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7 January 2021

Kinetic stabilization of the alpha-synuclein protofibril by a dopamine-alpha-synuclein adduct

1 reference

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7 January 2021

The cellular pathology of Parkinson's disease

1 reference

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7 January 2021

Mutant and wild type human alpha-synucleins assemble into elongated filaments with distinct morphologies in vitro

1 reference

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7 January 2021

Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy

1 reference

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7 January 2021

Human alpha-synuclein-harboring familial Parkinson's disease-linked Ala-53 --> Thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Annular alpha-synuclein protofibrils are produced when spherical protofibrils are incubated in solution or bound to brain-derived membranes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Neurodegenerative disease: amyloid pores from pathogenic mutations

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7 January 2021

Alpha-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils

1 reference

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7 January 2021

Vesicle permeabilization by protofibrillar alpha-synuclein is sensitive to Parkinson's disease-linked mutations and occurs by a pore-like mechanism.

1 reference

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7 January 2021

Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein

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7 January 2021

Molecular cloning and expression of rat contraception associated protein 1 (CAP1), a protein putatively involved in fertilization

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7 January 2021

DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras

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https://api.crossref.org/works/10.1016%2FS1474-4422%2803%2900350-8

7 January 2021

Oxidized forms of peroxiredoxins and DJ-1 on two-dimensional gels increased in response to sublethal levels of paraquat

1 reference

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7 January 2021

DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin

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7 January 2021

Pathways to Parkinsonism

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7 January 2021

10.1016/S1474-4422(03)00350-8

Identifiers

DOI

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6 August 2017

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