Hypothalamic–endocrine aspects in Huntington's disease

Å Petersén, M Björkqvist - European Journal of Neuroscience, 2006 - Wiley Online Library
Huntington's disease (HD) is a hereditary and fatal disorder caused by an expanded CAG
triplet repeat in the HD gene, resulting in a mutant form of the protein huntingtin. Wild‐type …

HD and SCA1: Tales from two 30-year journeys since gene discovery

LM Thompson, HT Orr - Neuron, 2023 - cell.com
One of the more transformative findings in human genetics was the discovery that the
expansion of unstable nucleotide repeats underlies a group of inherited neurological …

[HTML][HTML] Suppression of neurodegeneration and increased neurotransmission caused by expanded full-length huntingtin accumulating in the cytoplasm

E Romero, GH Cha, P Verstreken, CV Ly, RE Hughes… - Neuron, 2008 - cell.com
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by
expansion of a translated CAG repeat in the N terminus of the huntingtin (htt) protein. Here …

Differential ubiquitination and degradation of huntingtin fragments modulated by ubiquitin-protein ligase E3A

KP Bhat, S Yan, CE Wang, S Li… - Proceedings of the …, 2014 - National Acad Sciences
Ubiquitination of misfolded proteins, a common feature of many neurodegenerative
diseases, is mediated by different lysine (K) residues in ubiquitin and alters the levels of …

[HTML][HTML] Pyk2 modulates hippocampal excitatory synapses and contributes to cognitive deficits in a Huntington's disease model

A Giralt, V Brito, Q Chevy, C Simonnet, Y Otsu… - Nature …, 2017 - nature.com
The structure and function of spines and excitatory synapses are under the dynamic control
of multiple signalling networks. Although tyrosine phosphorylation is involved, its regulation …

Mouse models of Huntington's disease

PP Farshim, GP Bates - Huntington's disease, 2018 - Springer
The identification of the mutation causing Huntington's disease (HD) has led to the
generation of a large number of mouse models. These models are used to further enhance …

Automated deformation analysis in the YAC128 Huntington disease mouse model

JP Lerch, JB Carroll, S Spring, LN Bertram, C Schwab… - Neuroimage, 2008 - Elsevier
The YAC128 mouse recapitulates many of the clinical features of Huntington disease (HD),
including selective neuropathology with neuronal loss. Here we investigate whether …

Selective neuronal degeneration in Huntington's disease

CM Cowan, LA Raymond - Current topics in developmental biology, 2006 - Elsevier
Huntington's disease (HD) is a progressive neurodegenerative disorder that generally
begins in middle age with abnormalities of movement, cognition, personality, and mood …

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 …

Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease

CE Wang, S Tydlacka, AL Orr, SH Yang… - Human molecular …, 2008 - academic.oup.com
A number of mouse models expressing mutant huntingtin (htt) with an expanded
polyglutamine (polyQ) domain are useful for studying the pathogenesis of Huntington's …