Quantitative neuropathological changes in presymptomatic Huntington's disease

E Gómez‐Tortosa, ME MacDonald… - Annals of Neurology …, 2001 - Wiley Online Library
Morphometric studies of the tail of the caudate nucleus, the site where the pathology is first
seen, were performed on 16 brain specimens collected from individuals at risk for inheriting …

Mitochondria and Huntington's disease pathogenesis: insight from genetic and chemical models

SE Browne - Annals of the New York Academy of Sciences, 2008 - Wiley Online Library
A mechanistic link between cellular energetic defects and the pathogenesis of Huntington's
disease (HD) has long been hypothesized based on the cardinal observations of …

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease

JM Van Raamsdonk, Z Murphy, EJ Slow… - Human molecular …, 2005 - academic.oup.com
Huntington disease (HD) is an adult onset neurodegenerative disorder that predominantly
affects the striatum and cortex despite ubiquitous expression of mutant huntingtin (htt). Here …

Wild-type huntingtin plays a role in brain development and neuronal survival

A Reiner, I Dragatsis, S Zeitlin, D Goldowitz - Molecular neurobiology, 2003 - Springer
While the role of the mutated Huntington's disease (HD) protein in the pathogenesis of HD
has been the focus of intensive investigation, the normal protein has received less attention …

Neuroinflammation in Huntington's disease: From animal models to clinical therapeutics

Q Jia, S Li, XJ Li, P Yin - Frontiers in Immunology, 2022 - frontiersin.org
Huntington's disease (HD) is a progressive neurodegenerative disease characterized by
preferential loss of neurons in the striatum in patients, which leads to motor and cognitive …

The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal

T Maiuri, T Woloshansky, J Xia… - Human molecular …, 2013 - academic.oup.com
The first 17 amino acids of Huntington's disease (HD) protein, huntingtin, comprise an
amphipathic alpha-helical domain that can target huntingtin to the endoplasmic reticulum …

[HTML][HTML] Mouse models of Huntington's disease and methodological considerations for therapeutic trials

RJ Ferrante - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2009 - Elsevier
Huntington's disease (HD) is an autosomal dominant, progressive, and fatal
neurodegenerative disorder caused by an expanded polyglutamine cytosine–adenine …

Trinucleotide repeats and neurodegenerative disease

CM Everett, NW Wood - Brain, 2004 - academic.oup.com
Major insights have been attained into the molecular pathology of the trinucleotide repeat
neurodegenerative diseases over the past decade. Genetic definition has allowed …

Striatal synaptic dysfunction and altered calcium regulation in Huntington disease

LA Raymond - Biochemical and biophysical research communications, 2017 - Elsevier
Synaptic dysfunction and altered calcium homeostasis in the brain is common to many
neurodegenerative disorders. Among these, Huntington disease (HD), which is inherited in …

Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease

JM Van Raamsdonk, J Pearson… - Human molecular …, 2005 - academic.oup.com
Huntington disease (HD) is an adult-onset neurodegenerative disease caused by a toxic
gain of function in the huntingtin (htt) protein. The contribution of wild-type htt function to the …