Huntington's disease: from molecular pathogenesis to clinical treatment

CA Ross, SJ Tabrizi - The Lancet Neurology, 2011 - thelancet.com
Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an
expanded CAG repeat in the huntingtin gene, which encodes an abnormally long …

Pathophysiology of Huntington's disease: time-dependent alterations in synaptic and receptor function

LA Raymond, VM André, C Cepeda, CM Gladding… - Neuroscience, 2011 - Elsevier
Huntington's disease (HD) is a progressive, fatal neurological condition caused by an
expansion of CAG (glutamine) repeats in the coding region of the Huntington gene. To date …

Regional and cellular gene expression changes in human Huntington's disease brain

A Hodges, AD Strand, AK Aragaki… - Human molecular …, 2006 - academic.oup.com
Huntington's disease (HD) pathology is well understood at a histological level but a
comprehensive molecular analysis of the effect of the disease in the human brain has not …

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

US–Venezuela Collaborative … - Proceedings of the …, 2004 - National Acad Sciences
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by
a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important …

SUMO modification of Huntingtin and Huntington's disease pathology

JS Steffan, N Agrawal, J Pallos, E Rockabrand… - Science, 2004 - science.org
Huntington's disease (HD) is characterized by the accumulation of a pathogenic protein,
Huntingtin (Htt), that contains an abnormal polyglutamine expansion. Here, we report that a …

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 …

Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1, 4, 5) triphosphate receptor type 1

TS Tang, H Tu, EYW Chan, A Maximov, Z Wang… - Neuron, 2003 - cell.com
Huntington's disease (HD) is caused by polyglutamine expansion (exp) in huntingtin (Htt).
The type 1 inositol (1, 4, 5)-triphosphate receptor (InsP 3 R1) is an intracellular calcium (Ca …

p53 mediates cellular dysfunction and behavioral abnormalities in Huntington's disease

BI Bae, H Xu, S Igarashi, M Fujimuro, N Agrawal… - Neuron, 2005 - cell.com
We present evidence for a specific role of p53 in the mitochondria-associated cellular
dysfunction and behavioral abnormalities of Huntington's disease (HD). Mutant huntingtin …

Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease

MM Zeron, O Hansson, N Chen, CL Wellington… - Neuron, 2002 - cell.com
Previous work suggests N-methyl-D-aspartate receptor (NMDAR) activation may be involved
in degeneration of medium-sized spiny striatal neurons in Huntington's disease (HD). Here …

Global changes to the ubiquitin system in Huntington's disease

EJ Bennett, TA Shaler, B Woodman, KY Ryu… - Nature, 2007 - nature.com
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by
expansion of CAG triplet repeats in the huntingtin (HTT) gene (also called HD) and …