Results 11 to 20 of about 10,545,647 (179)

Potential disease modifying therapies for Huntington’s disease, lessons learned and future opportunities

Lancet Neurology, 2022
Huntington’s disease is the most frequent autosomal dominant neurodegenerative disorder, for which we have no approved disease-modifying treatments. The molecular pathogenesis of Huntington’s disease is complex, with toxicity arising from full length ...
S. Tabrizi, C. Estévez-Fraga, W. V. van Roon-Mom, M. Flower, R. Scahill, E. Wild, I. Muñoz-Sanjuán, C. Sampaio, A. Rosser, B. Leavitt   +9 more
semanticscholar   +1 more source

A Multi-Study Model-Based Evaluation of the Sequence of Imaging and Clinical Biomarker Changes in Huntington’s Disease

Frontiers in Big Data, 2021
Understanding the order and progression of change in biomarkers of neurodegeneration is essential to detect the effects of pharmacological interventions on these biomarkers.
Peter A. Wijeratne, Peter A. Wijeratne, Eileanoir B. Johnson, Sarah Gregory, Nellie Georgiou-Karistianis, Jane S. Paulsen, Rachael I. Scahill, Sarah J. Tabrizi, Daniel C. Alexander   +8 more
doaj   +1 more source

The heat shock response, determined by QuantiGene multiplex, is impaired in HD mouse models and not caused by HSF1 reduction

Scientific Reports, 2021
Huntington’s disease (HD) is a devastating neurodegenerative disorder, caused by a CAG/polyglutamine repeat expansion, that results in the aggregation of the huntingtin protein, culminating in the deposition of inclusion bodies in HD patient brains.
Casandra Gomez-Paredes, Michael A. Mason, Bridget A. Taxy, Aikaterini S. Papadopoulou, Paolo Paganetti, Gillian P. Bates   +5 more
doaj   +1 more source

New Avenues for the Treatment of Huntington’s Disease

International Journal of Molecular Sciences, 2021
Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HD gene. The disease is characterized by neurodegeneration, particularly in the striatum and cortex.
A. Kim, Kathryn Lalonde, Aaron Truesdell, Priscilla Gomes Welter, P. Brocardo, T. Rosenstock, J. Gil-Mohapel   +6 more
semanticscholar   +1 more source

Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues

Genome Biology, 2022
Background A major challenge in neurodegenerative diseases concerns identifying biological disease signatures that track with disease progression or respond to an intervention. Several clinical trials in Huntington disease (HD), an inherited, progressive
Andreas Neueder, Kerstin Kojer, Tanja Hering, Daniel J. Lavery, Jian Chen, Nathalie Birth, Jaqueline Hallitsch, Sonja Trautmann, Jennifer Parker, Michael Flower, Huma Sethi, Salman Haider, Jong-Min Lee, Sarah J. Tabrizi, Michael Orth   +14 more
doaj   +1 more source

Silencing Srsf6 does not modulate incomplete splicing of the huntingtin gene in Huntington’s disease models

Scientific Reports, 2020
We have previously shown that the incomplete splicing of exon 1 to exon 2 of the HTT gene results in the production of a small polyadenylated transcript (Httexon1) that encodes the highly pathogenic exon 1 HTT protein.
Michael A. Mason, Casandra Gomez-Paredes, Kirupa Sathasivam, Andreas Neueder, Aikaterini-Smaragdi Papadopoulou, Gillian P. Bates   +5 more
doaj   +1 more source

Gene suppression approaches to neurodegeneration

Alzheimer’s Research & Therapy, 2017
Gene suppression approaches have emerged over the last 20 years as a novel therapeutic approach for the treatment of neurodegenerative diseases. These include RNA interference and anti-sense oligonucleotides, both of which act at the post-transcriptional
Rhia Ghosh, Sarah J. Tabrizi
doaj   +1 more source

Correlative light and electron microscopy suggests that mutant huntingtin dysregulates the endolysosomal pathway in presymptomatic Huntington’s disease

Acta Neuropathologica Communications, 2021
Huntington’s disease (HD) is a late onset, inherited neurodegenerative disorder for which early pathogenic events remain poorly understood. Here we show that mutant exon 1 HTT proteins are recruited to a subset of cytoplasmic aggregates in the cell ...
Ya Zhou, Thomas R. Peskett, Christian Landles, John B. Warner, Kirupa Sathasivam, Edward J. Smith, Shu Chen, Ronald Wetzel, Hilal A. Lashuel, Gillian P. Bates, Helen R. Saibil   +10 more
doaj   +1 more source

Huntington’s disease: diagnosis and management

Practical Neurology, 2021
Huntington’s disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification
T. Stoker, S. Mason, J. Greenland, S. Holden, Helen Santini, R. Barker   +5 more
semanticscholar   +1 more source

SUMO-modifying Huntington’s disease

IBRO Neuroscience Reports, 2022
Small ubiquitin-like modifiers, SUMOs, are proteins that are conjugated to target substrates and regulate their functions in a post-translational modification called SUMOylation.
Ericks S. Soares, Rui D. Prediger, Patricia S. Brocardo, Helena I. Cimarosti   +3 more
doaj   +1 more source