Huntington disease

GP Bates, R Dorsey, JF Gusella, MR Hayden… - Nature reviews Disease …, 2015 - nature.com
Huntington disease is devastating to patients and their families—with autosomal dominant
inheritance, onset typically in the prime of adult life, progressive course, and a combination …

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 …

Huntington disease: natural history, biomarkers and prospects for therapeutics

CA Ross, EH Aylward, EJ Wild, DR Langbehn… - Nature Reviews …, 2014 - nature.com
Huntington disease (HD) can be seen as a model neurodegenerative disorder, in that it is
caused by a single genetic mutation and is amenable to predictive genetic testing, with …

Beyond the brain: widespread pathology in Huntington's disease

JMM van der Burg, M Björkqvist, P Brundin - The Lancet Neurology, 2009 - thelancet.com
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a
polyglutamine stretch in the huntingtin protein. Today, more than 15 years after the genetic …

Unravelling and exploiting astrocyte dysfunction in Huntington's disease

BS Khakh, V Beaumont, R Cachope… - Trends in …, 2017 - cell.com
Astrocytes are abundant within mature neural circuits and are involved in brain disorders.
Here, we summarize our current understanding of astrocytes and Huntington's disease (HD) …

SIRT2 inhibition achieves neuroprotection by decreasing sterol biosynthesis

R Luthi-Carter, DM Taylor, J Pallos… - Proceedings of the …, 2010 - National Acad Sciences
Huntington's disease (HD), an incurable neurodegenerative disorder, has a complex
pathogenesis including protein aggregation and the dysregulation of neuronal transcription …

Cholesterol hydroxylating cytochrome P450 46A1: from mechanisms of action to clinical applications

IA Pikuleva, N Cartier - Frontiers in Aging Neuroscience, 2021 - frontiersin.org
Cholesterol, an essential component of the brain, and its local metabolism are involved in
many neurodegenerative diseases. The blood-brain barrier is impermeable to cholesterol; …

CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease

L Boussicault, S Alves, A Lamazière, A Planques… - Brain, 2016 - academic.oup.com
Huntington's disease is an autosomal dominant neurodegenerative disease caused by
abnormal polyglutamine expansion in huntingtin (Exp-HTT) leading to degeneration of …

Oxysterols and neurodegenerative diseases

I Björkhem, A Cedazo-Minguez, V Leoni… - Molecular aspects of …, 2009 - Elsevier
In contrast to their parent molecule cholesterol, two of its side-chain oxidized metabolites are
able to cross the blood–brain barrier. There is a concentration-driven flux of 24S …