Huntington's disease: from pathology and genetics to potential therapies

S Imarisio, J Carmichael, V Korolchuk… - Biochemical …, 2008 - portlandpress.com
Huntington's disease (HD) is a devastating autosomal dominant neurodegenerative disease
caused by a CAG trinucleotide repeat expansion encoding an abnormally long …

Proteins containing expanded polyglutamine tracts and neurodegenerative disease

A Adegbuyiro, F Sedighi, AW Pilkington IV… - Biochemistry, 2017 - ACS Publications
Several hereditary neurological and neuromuscular diseases are caused by an abnormal
expansion of trinucleotide repeats. To date, there have been 10 of these trinucleotide repeat …

Physical chemistry of polyglutamine: intriguing tales of a monotonous sequence

R Wetzel - Journal of molecular biology, 2012 - Elsevier
Polyglutamine (polyQ) sequences of unknown normal function are present in a significant
number of proteins, and their repeat expansion is associated with a number of genetic …

Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease

S Alves, I Nascimento-Ferreira, G Auregan, R Hassig… - PloS one, 2008 - journals.plos.org
Recent studies have demonstrated that RNAi is a promising approach for treating autosomal
dominant disorders. However, discrimination between wild-type and mutant transcripts is …

Neuronal death: where does the end begin?

L Conforti, R Adalbert, MP Coleman - Trends in neurosciences, 2007 - cell.com
Neurodegenerative disorders involve death of cell bodies, axons, dendrites and synapses,
but it is surprisingly difficult to determine the spatiotemporal sequence of events and the …

AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease

RP Vázquez-Manrique, F Farina… - Human molecular …, 2016 - academic.oup.com
The adenosine monophosphate activated kinase protein (AMPK) is an evolutionary-
conserved protein important for cell survival and organismal longevity through the …

Image analysis tools for evaluation of microscopic views of immunohistochemically stained specimen in medical research–a review

K Prasad, GK Prabhu - Journal of medical systems, 2012 - Springer
The aim of this study is to review the methods being used for image analysis of microscopic
views of immunohistochemically stained specimen in medical research. The solutions …

General structural motifs of amyloid protofilaments

N Ferguson, J Becker, H Tidow… - Proceedings of the …, 2006 - National Acad Sciences
Human CA150, a transcriptional activator, binds to and is co-deposited with huntingtin
during Huntington's disease. The second WW domain of CA150 is a three-stranded β-sheet …

Neuroprotection by Hsp104 and Hsp27 in lentiviral-based rat models of Huntington's disease

V Perrin, E Régulier, T Abbas-Terki, R Hassig… - Molecular Therapy, 2007 - cell.com
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an
expansion of glutamine repeats in the huntingtin (htt) protein. Abnormal protein folding and …

Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3?

S Alves, I Nascimento-Ferreira, N Dufour… - Human molecular …, 2010 - academic.oup.com
Machado–Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) is a fatal, autosomal
dominant disorder caused by a cytosine-adenine-guanine expansion in the coding region of …