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 …
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 …
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 …
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 …
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
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 …
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 …
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
The YAC128 mouse recapitulates many of the clinical features of Huntington disease (HD),
including selective neuropathology with neuronal loss. Here we investigate whether …
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 …
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 …
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 …
polyglutamine (polyQ) domain are useful for studying the pathogenesis of Huntington's …