(Q35056067)

6 August 2017

title

HD CAG-correlated gene expression changes support a simple dominant gain of function (English)

1 reference

6 August 2017

7

Isaac S Kohane

1 reference

6 August 2017

8

James F Gusella

1 reference

6 August 2017

10

Marcy E MacDonald

1 reference

6 August 2017

9

Ihn Sik Seong

1 reference

6 August 2017

3

Juliana M Woda

1 reference

6 August 2017

5

Kathryn R Coser

1 reference

6 August 2017

11

Toshi Shioda

1 reference

6 August 2017

Jessie C Jacobsen

1

1 reference

6 August 2017

Gillian C Gregory

2

1 reference

6 August 2017

Morgan N Thompson

4

1 reference

6 August 2017

Vidya Murthy

6

1 reference

6 August 2017

Jong-Min Lee

12

1 reference

6 August 2017

publication date

2 May 2011

1 reference

6 August 2017

published in

Human Molecular Genetics

1 reference

6 August 2017

volume

20

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6 August 2017

issue

14

1 reference

6 August 2017

page(s)

2846-2860

1 reference

describes a project that uses

6 August 2017

Cytoscape

1 reference

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

based on heuristic

inferred from PubMed Central ID database lookup

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Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

8 July 2018

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PR65, the HEAT-repeat scaffold of phosphatase PP2A, is an elastic connector that links force and catalysis

8 July 2018

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8 July 2018

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Polyglutamine expansion in huntingtin alters its interaction with phospholipids

8 July 2018

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Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

8 July 2018

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8 July 2018

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Longitudinal evaluation of the Hdh(CAG)150 knock-in murine model of Huntington's disease

8 July 2018

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Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.

8 July 2018

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Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease.

8 July 2018

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Severe deficiency of the fatty acid amide hydrolase (FAAH) activity segregates with the Huntington's disease mutation in peripheral lymphocytes.

8 July 2018

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Nucleocytoplasmic trafficking and transcription effects of huntingtin in Huntington's disease

8 July 2018

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Huntington's disease: from huntingtin function and dysfunction to therapeutic strategies.

8 July 2018

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Expression and characterization of full-length human huntingtin, an elongated HEAT repeat protein

8 July 2018

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Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro

8 July 2018

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Knock-in mouse models of Huntington's disease

8 July 2018

1 reference

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Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

8 July 2018

1 reference

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Discovering statistically significant pathways in expression profiling studies

8 July 2018

1 reference

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Huntingtin: alive and well and working in middle management

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

8 July 2018

1 reference

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The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor

8 July 2018

1 reference

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Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease

8 July 2018

1 reference

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Loss of normal huntingtin function: new developments in Huntington's disease research

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles

8 July 2018

1 reference

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Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

8 July 2018

1 reference

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Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

8 July 2018

1 reference

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Huntingtin interacts with a family of WW domain proteins

8 July 2018

1 reference

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8 July 2018

1 reference

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Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Relationship between trinucleotide repeat expansion and phenotypic variation 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=3118763

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=3118763

Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Inactivation of the mouse Huntington's disease gene homolog Hdh

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

HEAT repeats in the Huntington's disease protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Homozygotes for 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=3118763

Homozygote for 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=3118763

Reduced penetrance of the Huntington's disease mutation

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Autopsy-proven Huntington's disease with 29 trinucleotide repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Huntingtin-deficient zebrafish exhibit defects in iron utilization and development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Mutant huntingtin and glycogen synthase kinase 3-beta accumulate in neuronal lipid rafts of a presymptomatic knock-in mouse model of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR195

Longitudinal analysis of the behavioural phenotype in Hdh(CAG)150 Huntington's disease knock-in mice

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118763

Huntingtin: Alive and Well and Working in Middle Management

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21536587

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR195

1 reference

6 August 2017

1 reference

6 August 2017

1 reference