(Q37800102)

23 August 2017

title

Autosomal recessive mutations in the development of Parkinson's disease (English)

1 reference

23 August 2017

Autosomal Recessive Mutations in the Development of Parkinson‘s Disease (English)

1 reference

2 August 2024

1 reference

Grisel Lopez

1

1 reference

23 August 2017

Ellen Sidransky

2

1 reference

23 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20945983

2 August 2024

publication date

1 October 2010

1 reference

full work available at URL

23 August 2017

http://www.futuremedicine.com/doi/abs/10.2217/bmm.10.96

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20945983

https://www.tandfonline.com/doi/pdf/10.2217/bmm.10.96

2 August 2024

1 reference

2 August 2024

published in

Biomarkers in Medicine

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23 August 2017

volume

4

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23 August 2017

issue

5

1 reference

23 August 2017

page(s)

713-721

1 reference

Geographic and ethnic variation in Parkinson disease: a population-based study of US Medicare beneficiaries.

23 August 2017

cites work

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

21 January 2018

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Parkinson's disease: from monogenic forms to genetic susceptibility factors

21 January 2018

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Heterozygosity for a Mendelian disorder as a risk factor for complex disease

21 January 2018

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Familial juvenile parkinsonism: clinical and pathologic study in a family

21 January 2018

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Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder

21 January 2018

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Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

21 January 2018

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Genome-wide approaches to systematically identify substrates of the ubiquitin-proteasome pathway

21 January 2018

1 reference

Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation

21 January 2018

1 reference

Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

21 January 2018

1 reference

Parkin-associated Parkinson's disease

21 January 2018

1 reference

Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons

21 January 2018

1 reference

Mitochondrial dysfunction and oxidative damage in parkin-deficient mice

21 January 2018

1 reference

PINK1 is selectively stabilized on impaired mitochondria to activate Parkin

21 January 2018

1 reference

The PINK1/Parkin pathway regulates mitochondrial morphology

21 January 2018

1 reference

PINK1 mutations are associated with sporadic early-onset parkinsonism

21 January 2018

1 reference

Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.

21 January 2018

1 reference

The mitochondrial kinase PINK1, stress response and Parkinson's disease

21 January 2018

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Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration

21 January 2018

1 reference

A pivotal role for PINK1 and autophagy in mitochondrial quality control: implications for Parkinson disease

21 January 2018

1 reference

Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1.

21 January 2018

1 reference

Mitochondrial morphogenesis, distribution, and Parkinson disease: insights from PINK1

21 January 2018

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

21 January 2018

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DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

21 January 2018

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Clinical features and neuroimaging of PARK7-linked parkinsonism

21 January 2018

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

21 January 2018

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Shedding of a rat epididymal sperm protein associated with infertility induced by ornidazole and alpha-chlorohydrin

21 January 2018

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DJ-1 up-regulates glutathione synthesis during oxidative stress and inhibits A53T alpha-synuclein toxicity

21 January 2018

1 reference

The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization

21 January 2018

1 reference

Interaction of DJ-1 with Daxx inhibits apoptosis signal-regulating kinase 1 activity and cell death

21 January 2018

1 reference

Mechanisms of DJ-1 neuroprotection in a cellular model of Parkinson's disease

21 January 2018

1 reference

Increased vulnerability of nigrostriatal terminals in DJ-1-deficient mice is mediated by the dopamine transporter

21 January 2018

1 reference

The Parkinson's disease gene DJ-1 is also a key regulator of stroke-induced damage.

21 January 2018

1 reference

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

1 reference

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

21 January 2018

1 reference

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

21 January 2018

1 reference

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

1 reference

Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

21 January 2018

1 reference

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

21 January 2018

1 reference

Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

21 January 2018

1 reference

Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study

21 January 2018

1 reference

Occurrence of Parkinson's syndrome in type I Gaucher disease

21 January 2018

1 reference

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

21 January 2018

1 reference

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease

21 January 2018

1 reference

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

21 January 2018

1 reference

Glucocerebrosidase mutations in subjects with parkinsonism

21 January 2018

1 reference

Parkinsonism among Gaucher disease carriers

21 January 2018

1 reference

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

21 January 2018

1 reference

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

The risk of Parkinson's disease in type 1 Gaucher disease

21 January 2018

1 reference

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

21 January 2018

1 reference

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

21 January 2018

1 reference

Downregulation of parkin damages antioxidant defenses and enhances proteasome inhibition-induced toxicity in PC12 cells

21 January 2018

1 reference

Down regulation of DJ-1 enhances cell death by oxidative stress, ER stress, and proteasome inhibition

21 January 2018

1 reference

Oxidative damage in Parkinson disease: Measurement using accurate biomarkers.

21 January 2018

1 reference

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

Abberant alpha-synuclein confers toxicity to neurons in part through inhibition of chaperone-mediated autophagy

21 January 2018

1 reference

Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system

21 January 2018

1 reference

Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease

21 January 2018

1 reference

Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease

21 January 2018

1 reference

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

21 January 2018

1 reference

The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders

21 January 2018

1 reference

Reduced amplitude of the sural nerve sensory action potential in PARK2 patients

21 January 2018

6

1 reference

Increased incidence of Parkinson disease among relatives of patients with Gaucher disease

2 August 2024

51

1 reference

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

2 August 2024

55

1 reference

2 August 2024

Identifiers

DOI

10.2217/BMM.10.96

1 reference

23 August 2017

1 reference