Huntington's disease

FO Walker - The Lancet, 2007 - thelancet.com
Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder
with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline …

The hunt for huntingtin function: interaction partners tell many different stories

P Harjes, EE Wanker - Trends in biochemical sciences, 2003 - cell.com
Huntington's disease (HD) is a neurodegenerative disorder caused by an abnormally
elongated polyglutamine (polyQ) tract in the large protein huntingtin (htt). Currently, both the …

Huntingtin–protein interactions and the pathogenesis of Huntington's disease

SH Li, XJ Li - TRENDS in Genetics, 2004 - cell.com
At least nine inherited neurodegenerative diseases share a polyglutamine expansion in
their respective disease proteins. These diseases show distinct neuropathological changes …

Mechanisms of neurodegeneration in Huntington's disease

JM Gil, AC Rego - European Journal of Neuroscience, 2008 - Wiley Online Library
Huntington's disease (HD) is caused by an expansion of cytosine–adenine–guanine (CAG)
repeats in the huntingtin gene, which leads to neuronal loss in the striatum and cortex and to …

Genetics and neuropathology of Huntington's disease

A Reiner, I Dragatsis, P Dietrich - International review of neurobiology, 2011 - Elsevier
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative
disorder that prominently affects the basal ganglia, leading to affective, cognitive, behavioral …

Oxidative damage in Huntington's disease pathogenesis

SE Browne, MF Beal - Antioxidants & redox signaling, 2006 - liebertpub.com
Huntington's disease (HD) is a devastating neurodegenerative disorder characterized by the
progressive development of involuntary choreiform movements, cognitive impairment …

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

S Gines, IS Seong, E Fossale, E Ivanova… - Human molecular …, 2003 - academic.oup.com
Defects in gene transcription and mitochondrial function have been implicated in the
dominant disease process that leads to the loss of striatal neurons in Huntington's disease …

Huntington's disease: a synaptopathy?

JY Li, M Plomann, P Brundin - Trends in molecular medicine, 2003 - cell.com
Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin.
In its terminal stage, HD is characterized by widespread neuronal death in the neocortex …

Kinase inhibitors modulate huntingtin cell localization and toxicity

RS Atwal, CR Desmond, N Caron, T Maiuri… - Nature chemical …, 2011 - nature.com
Two serine residues within the first 17 amino acid residues of huntingtin (N17) are crucial for
modulation of mutant huntingtin toxicity in cell and mouse genetic models of Huntington's …

Synaptic vulnerability in neurodegenerative disease

TM Wishart, SH Parson… - … of Neuropathology & …, 2006 - academic.oup.com
Recent developments in our understanding of the pathophysiological mechanisms
underlying degeneration in both the central and peripheral nervous systems have …