Molecular mechanisms and potential therapeutical targets in Huntington's disease

C Zuccato, M Valenza, E Cattaneo - Physiological reviews, 2010 - journals.physiology.org
Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat
expansion in the gene encoding for huntingtin protein. A lot has been learned about this …

Huntington's disease: mechanisms of pathogenesis and therapeutic strategies

M Jimenez-Sanchez, F Licitra… - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG
trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined …

A review on caspases: key regulators of biological activities and apoptosis

G Sahoo, D Samal, P Khandayataray… - Molecular neurobiology, 2023 - Springer
Caspases are proteolytic enzymes that belong to the cysteine protease family and play a
crucial role in homeostasis and programmed cell death. Caspases have been broadly …

Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology

CA Gutekunst, SH Li, H Yi, JS Mulroy… - Journal of …, 1999 - Soc Neuroscience
The data we report in this study concern the types, location, numbers, forms, and
composition of microscopic huntingtin aggregates in brain tissues from humans with different …

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease

EJ Slow, J van Raamsdonk, D Rogers… - Human molecular …, 2003 - academic.oup.com
An expanded CAG repeat is the underlying genetic defect in Huntington disease, a disorder
characterized by motor, psychiatric and cognitive deficits and striatal atrophy associated with …

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration

JG Hodgson, N Agopyan, CA Gutekunst, BR Leavitt… - Neuron, 1999 - cell.com
We have produced yeast artificial chromosome (YAC) transgenic mice expressing normal
(YAC18) and mutant (YAC46 and YAC72) huntingtin (htt) in a developmental and tissue …

Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin

RK Graham, Y Deng, EJ Slow, B Haigh, N Bissada… - Cell, 2006 - cell.com
Cleavage of huntingtin (htt) has been characterized in vitro, and accumulation of caspase
cleavage fragments represents an early pathological change in brains of Huntington's …

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 …

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 …

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 …