Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription

KB Kegel, AR Meloni, Y Yi, YJ Kim, E Doyle… - Journal of Biological …, 2002 - ASBMB
Huntingtin is a protein of unknown function that contains a polyglutamine tract, which is
expanded in patients with Huntington's disease (HD). We investigated the localization and a …

Huntington disease and the huntingtin protein

Z Zheng, MI Diamond - Progress in molecular biology and translational …, 2012 - Elsevier
Huntington disease (HD) is a devastating neurodegenerative disease that derives from CAG
repeat expansion in the huntingtin gene. The clinical syndrome consists of progressive …

Expression of normal and mutant huntingtin in the developing brain

PG Bhide, M Day, E Sapp, C Schwarz… - Journal of …, 1996 - Soc Neuroscience
Huntington's disease (HD) is caused by a genetic mutation that results in a polyglutamine
expansion in huntingtin. The time course of neuronal loss in the HD striatum and other …

[HTML][HTML] The biological function of the Huntingtin protein and its relevance to Huntington's Disease pathology

J Schulte, JT Littleton - Current trends in neurology, 2011 - ncbi.nlm.nih.gov
Huntington's Disease is an adult-onset dominant heritable disorder characterized by
progressive psychiatric disruption, cognitive deficits, and loss of motor coordination. It is …

Transcriptional dysregulation in Huntington's disease

JHJ Cha - Trends in neurosciences, 2000 - cell.com
Although the gene responsible for Huntington's disease was discovered in 1993, the
pathogenic mechanisms by which mutant huntingtin causes neuronal dysfunction and death …

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

R Truant, RS Atwal, A Burtnik - Progress in neurobiology, 2007 - Elsevier
There are nine genetic neurodegenerative diseases caused by a similar genetic defect, a
CAG DNA triplet-repeat expansion in the disease gene's open reading frame resulting in a …

Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice

ZX Yu, SH Li, HP Nguyen, XJ Li - Human molecular genetics, 2002 - academic.oup.com
A pathological hallmark of polyglutamine diseases is the presence of inclusions or
aggregates of the expanded polyglutamine protein. Polyglutamine inclusions are present in …

Phosphorylation of huntingtin at residue T3 is decreased in Huntington's disease and modulates mutant huntingtin protein conformation

C Cariulo, L Azzollini, M Verani… - Proceedings of the …, 2017 - National Acad Sciences
Posttranslational modifications can have profound effects on the biological and biophysical
properties of proteins associated with misfolding and aggregation. However, their detection …

Huntingtin contains a highly conserved nuclear export signal

J Xia, DH Lee, J Taylor, M Vandelft… - Human molecular …, 2003 - academic.oup.com
Abstract Huntington's disease (HD), is a genetic neurodegenerative disease characterized
by a DNA CAG triplet repeat expansion in the first exon of the disease gene, HD. CAG DNA …

Differential expression of normal and mutant Huntington's disease gene alleles

F Persichetti, L Carlee, PW Faber, SM McNeil… - Neurobiology of …, 1996 - Elsevier
Huntingtin expression was examined by Western blot and immunoprecipitation studies of
lymphoblastoid cell lines from Huntington's disease (HD) homozygotes, heterozygotes, and …