Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). (Q40515980)

21 September 2017

title

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). (English)

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21 September 2017

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Ludger Schöls

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21 September 2017

Daniela Berg

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21 September 2017

ORCID Public Data File 2021

Christine Klein

object named as

Christine Klein

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21 September 2017

Jörg B Schulz

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21 September 2017

Olaf Riess

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Rejko Krüger

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Bernd Wollnik

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21 September 2017

Robert Hering

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Karsten M Strauss

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21 September 2017

Xiao Tao

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21 September 2017

Andreas Bauer

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21 September 2017

Dirk Woitalla

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21 September 2017

Eva-Maria Mietz

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21 September 2017

Slobodanka Petrovic

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21 September 2017

Peter Bauer

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21 September 2017

Wilhelm Schaible

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21 September 2017

Thomas Müller

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Philipp T Meyer

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21 September 2017

Liang Tong

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21 September 2017

publication date

1 October 2004

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21 September 2017

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21 September 2017

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21 September 2017

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21 September 2017

page(s)

321-329

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The role of pathogenic DJ-1 mutations in Parkinson's disease.

21 September 2017

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Differential Effects of Parkinson's Disease-associated Mutations on Stability and Folding of DJ-1

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Improved methods for building protein models in electron density maps and the location of errors in these models

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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The ubiquitin pathway in Parkinson's disease

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

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The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

21 January 2018

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Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

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L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system

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Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study

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Familial Parkinson's disease-associated L166P mutation disrupts DJ-1 protein folding and function

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

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

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Crystal structure of human DJ-1, a protein associated with early onset Parkinson's disease

21 January 2018

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

21 January 2018

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Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

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Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

21 January 2018

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

21 January 2018

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7 January 2021

Radiosynthesis of [18F] N-3-fluoropropyl-2-beta-carbomethoxy-3-beta-(4-iodophenyl) nortropane and the first human study with positron emission tomography

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The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease

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7 January 2021

A large kindred with autosomal dominant Parkinson's disease

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7 January 2021

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.

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7 January 2021

Parkinsonism: onset, progression, and mortality

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7 January 2021

Age-environment and gene-environment interactions in the pathogenesis of Parkinson's disease

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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

A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.

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7 January 2021

Processing of X-ray diffraction data collected in oscillation mode

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7 January 2021

Western Nebraska family (family D) with autosomal dominant parkinsonism

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20089

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21 September 2017

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