The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients (Q34873673)

5 August 2017

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients (English)

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5 August 2017

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Jørgen E Nielsen

5

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Huu Phuc Nguyen

object named as

Huu Phuc Nguyen

8

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Olaf Riess

3

object named as

Olaf Riess

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5 August 2017

1

Silke Metzger

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5 August 2017

6

David Craufurd

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5 August 2017

4

Raymund A C Roos

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ORCID Public Data File 2021

5 August 2017

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author name string

Carolin Walter

2

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PubMed ID

23894380

5 August 2017

REGISTRY Investigators of the European Huntington’s Disease Network

7

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PubMed ID

23894380

5 August 2017

language of work or name

English

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publication date

22 July 2013

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5 August 2017

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5 August 2017

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5 August 2017

7

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5 August 2017

e68951

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Creative Commons Attribution 4.0 International

5 August 2017

start time

22 July 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

1 reference

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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

8 July 2018

1 reference

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NMDA receptor gene variations as modifiers in Huntington disease: a replication study

8 July 2018

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Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease.

8 July 2018

1 reference

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The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds.

8 July 2018

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Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

8 July 2018

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Loss of autophagy in the central nervous system causes neurodegeneration in mice

8 July 2018

1 reference

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The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Lithium induces autophagy by inhibiting inositol monophosphatase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

8 July 2018

1 reference

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Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

8 July 2018

1 reference

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A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

8 July 2018

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Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy

8 July 2018

1 reference

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The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

8 July 2018

1 reference

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Vacuolar import of proteins and organelles from the cytoplasm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length.

8 July 2018

1 reference

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The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

8 July 2018

1 reference

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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Trinucleotide repeat length instability and age of onset in Huntington's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

A retrospective study of the impact of lifestyle on age at onset of Huntington disease.

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

NR2A and NR2B receptor gene variations modify age at onset in Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

PGC-1alpha as modifier of onset age in Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Aggregate formation inhibits proteasomal degradation of polyglutamine proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Familial influence on age of onset among siblings with Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

CAG repeat size in the normal HTT allele and age of onset in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

BDNF Val66Met polymorphism is associated with cognitive impairment in Italian patients with Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Association of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism with Parkinson's disease in a Greek population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Lack of association between the BDNF Val66Met polymorphism and Parkinson's disease in a Swedish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

No association between the brain-derived neurotrophic factor 196 G>A or 270 C>T polymorphisms and Alzheimer's or Parkinson's disease.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3718802

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

26 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068951

10.1371/JOURNAL.PONE.0068951

21 January 2018

Identifiers

DOI

1 reference

5 August 2017

0 references

1 reference

5 August 2017

1 reference

PubMed ID

23894380