Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities

SJ Tabrizi, MD Flower, CA Ross, EJ Wild - Nature Reviews Neurology, 2020 - nature.com
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

[HTML][HTML] Autophagy in health and disease: A comprehensive review

S Saha, DP Panigrahi, S Patil, SK Bhutia - Biomedicine & pharmacotherapy, 2018 - Elsevier
Autophagy, a conserved catabolic process, plays an immensely significant role in a variety
of diseases. However, whether it imparts a protective function in diseases remains …

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 …

Molecular pathophysiological mechanisms in Huntington's disease

A Jurcau - Biomedicines, 2022 - mdpi.com
Huntington's disease is an inherited neurodegenerative disease described 150 years ago
by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG …

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 …

Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease

M Eshraghi, PP Karunadharma, J Blin… - Nature …, 2021 - nature.com
The polyglutamine expansion of huntingtin (mHTT) causes Huntington disease (HD) and
neurodegeneration, but the mechanisms remain unclear. Here, we found that mHtt promotes …

[HTML][HTML] Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules

LR Gauthier, BC Charrin, M Borrell-Pagès… - Cell, 2004 - cell.com
Polyglutamine expansion (polyQ) in the protein huntingtin is pathogenic and responsible for
the neuronal toxicity associated with Huntington's disease (HD). Although wild-type …

The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg

A Ciechanover, P Brundin - Neuron, 2003 - cell.com
The ubiquitin-proteasome system targets numerous cellular proteins for degradation. In
addition, modifications by ubiquitin-like proteins as well as proteins containing ubiquitin …

Normal huntingtin function: an alternative approach to Huntington's disease

E Cattaneo, C Zuccato, M Tartari - Nature Reviews Neuroscience, 2005 - nature.com
Several neurological diseases are characterized by the altered activity of one or a few
ubiquitously expressed cell proteins, but it is not known how these normal proteins turn into …

Role of brain-derived neurotrophic factor in Huntington's disease

C Zuccato, E Cattaneo - Progress in neurobiology, 2007 - Elsevier
Neurotrophic factors are essential contributors to the survival of peripheral and central
nervous system (CNS) neurons, and demonstration of their reduced availability in diseased …