scholarly journals Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease

2002 ◽  
Vol 11 (17) ◽  
pp. 1939-1951 ◽  
Author(s):  
E. Y.W. Chan
Keyword(s):  
Gene Expression ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Mouse Models ◽  
Huntingtin Protein ◽  
Protein Length

scholarly journals Huntingtin lowering reduces somatic instability at CAG-expanded loci

2020 ◽  
Author(s):  
Sydney R. Coffey ◽  
Marissa Andrew ◽  
Heather Ging ◽  
Joseph Hamilton ◽  
Michael Flower ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Mouse Models ◽  
Trinucleotide Repeats ◽  
Human Diseases ◽  
Huntingtin Protein ◽  
Somatic Instability ◽  
Human Ipsc ◽  
Knockin Mouse

AbstractExpanded trinucleotide repeats cause many human diseases, including Huntington’s disease (HD). Recent studies indicate that somatic instability of these repeats contributes to pathogenesis in several expansion disorders. We find that lowering huntingtin protein (HTT) levels reduces somatic instability of both the Htt and Atxn2 CAG tracts in knockin mouse models, and the HTT CAG tract in human iPSC-derived neurons, revealing an unexpected role for HTT in regulating somatic instability.

scholarly journals Striatal Mutant Huntingtin Protein Levels Decline with Age in Homozygous Huntington’s Disease Knock-In Mouse Models

2018 ◽  
Vol 7 (2) ◽  
pp. 137-150 ◽  
Author(s):  
Nicholas R. Franich ◽  
Manuela Basso ◽  
Emily A. André ◽  
Joseph Ochaba ◽  
Amit Kumar ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Mouse Models ◽  
Mutant Huntingtin ◽  
Huntingtin Protein ◽  
Protein Levels ◽  
Mutant Huntingtin Protein

scholarly journals RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease

2020 ◽  
Vol 11 ◽  
Author(s):  
Miguel A. Andrade-Navarro ◽  
Katja Mühlenberg ◽  
Eike J. Spruth ◽  
Nancy Mah ◽  
Adrián González-López ◽  
...  
Keyword(s):  
Gene Expression ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Peripheral Blood ◽  
Blood Cells ◽  
Trinucleotide Repeat ◽  
Neurodegenerative Disorder ◽  
Gene Expression Signature ◽  
Interferon Response ◽  
Peripheral Blood Cells

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the Huntingtin gene. As disease-modifying therapies for HD are being developed, peripheral blood cells may be used to indicate disease progression and to monitor treatment response. In order to investigate whether gene expression changes can be found in the blood of individuals with HD that distinguish them from healthy controls, we performed transcriptome analysis by next-generation sequencing (RNA-seq). We detected a gene expression signature consistent with dysregulation of immune-related functions and inflammatory response in peripheral blood from HD cases vs. controls, including induction of the interferon response genes, IFITM3, IFI6 and IRF7. Our results suggest that it is possible to detect gene expression changes in blood samples from individuals with HD, which may reflect the immune pathology associated with the disease.

scholarly journals Embryonic Mutant Huntingtin Aggregate Formation in Mouse Models of Huntington’s Disease

2016 ◽  
Vol 5 (4) ◽  
pp. 343-346 ◽  
Author(s):  
Alexander P. Osmand ◽  
Terry Jo. Bichell ◽  
Aaron B. Bowman ◽  
Gillian P. Bates
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Mouse Models ◽  
Mutant Huntingtin ◽  
Aggregate Formation

scholarly journals The Sirtuin 2 Inhibitor AK-7 Is Neuroprotective in Huntington’s Disease Mouse Models

Cell Reports ◽  
2012 ◽  
Vol 2 (6) ◽  
pp. 1492-1497 ◽  
Author(s):  
Vanita Chopra ◽  
Luisa Quinti ◽  
Jinho Kim ◽  
Lorraine Vollor ◽  
K. Lakshmi Narayanan ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Mouse Models
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