| DNA Repair and Somatic Repeat Expansion in Huntington’s Disease | Dear Colleague, It is our great pleasure to introduce this Special Issue for the Journal of Huntington’s Disease (JHD) (Volume 10, Issue 1). The Guest Editors have done a wonderful job pulling together this timely and exciting issue. DNA repair pathways have emerged as potential age-of-onset modifiers through genetic studies of Huntington’s disease and the further expansion of CAG repeats within the brain has been implicated in pathogenesis and disease progression. This exciting issue covers topics ranging from the discovery of somatic repeat expansion in HD, to our current understanding of the molecular mechanisms involved, and the development of potential new therapies targeting these mechanisms This is a fully open access issue of JHD with 10 articles on topics ranging from the discovery of somatic repeat expansion in HD, to our current understanding of the molecular mechanisms involved, and the development of potential new therapies targeting these mechanisms. View the content via the links below. Kind regards,
Editors-in-Chief | Extract from the Introduction by the Guest Editors
"The wealth of detail available in Huntington’s disease (HD) research, and the knowledge of DNA repair and somatic repeat expansion in HD, make an issue of JHD focusing on the mechanisms that may underlie these events highly topical. Over the past 5 years, novel genetics has transformed our understanding of the factors that are critical in the pathogenesis of HD, and is beginning to provide similar insight into other repeat expansion disorders. A characteristic feature shared by these diseases is the instability of the repeat tracts in the germline, and in somatic cells where the repeat expands over time. This has long been recognized, historically stimulating much research into these phenomena. This special issue is the first time much of this information has been brought together and synthesised with a focus on HD." | The issue is freely available, to read, download, and share EDITORIAL
Editorial to the Special Issue – Open Access
Leavitt, Blair R. | Thompson, Leslie M.. INTRODUCTION
Special Issue: DNA Repair and Somatic Repeat Expansion in Huntington’s Disease – Open Access
Jones, Lesley | Wheeler, Vanessa C. | Pearson, Christopher E. REVIEW ARTICLES
The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective – Open Access
Monckton, Darren G. Huntington’s Disease Pathogenesis: Two Sequential Components – Open Access
Hong, Eun Pyo | MacDonald, Marcy E. | Wheeler, Vanessa C. | Jones, Lesley | Holmans, Peter | Orth, Michael | Monckton, Darren G. | Long, Jeffrey D. | Kwak, Seung | Gusella, James F. | Lee, Jong-Min DNA Mismatch Repair and its Role in Huntington’s Disease – Open Access
Iyer, Ravi R. | Pluciennik, Anna FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders – Open Access
Deshmukh, Amit L. | Porro, Antonio | Mohiuddin, Mohiuddin | Lanni, Stella | Panigrahi, Gagan B. | Caron, Marie-Christine | Masson, Jean-Yves | Sartori, Alessandro A. | Pearson, Christopher E. Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models – Open Access
Wheeler, Vanessa C. | Dion, Vincent Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease – Open Access
Zhao, Xiaonan | Kumari, Daman | Miller, Carson J. | Kim, Geum-Yi | Hayward, Bruce | Vitalo, Antonia G. | Pinto, Ricardo Mouro | Usdin, Karen DNA Repair in Huntington’s Disease and Spinocerebellar Ataxias: Somatic Instability and Alternative Hypotheses – Open Access
Maiuri, Tamara | Hung, Claudia L.K. | Suart, Celeste | Begeja, Nola | Barba-Bazan, Carlos | Peng, Yi | Savic, Natasha | Wong, Timothy | Truant, Ray What is the Pathogenic CAG Expansion Length in Huntington’s Disease? – Open Access
Donaldson, Jasmine | Powell, Sophie | Rickards, Nadia | Holmans, Peter | Jones, Lesley Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases – Open Access
Benn, Caroline L. | Gibson, Karl R. | Reynolds, David S. RESEARCH ARTICLE
Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation – Open Access
Ciosi, Marc | Cumming, Sarah A. | Chatzi, Afroditi | Larson, Eloise | Tottey, William | Lomeikaite, Vilija | Hamilton, Graham | Wheeler, Vanessa C. | et al. | Most Read JHD Articles in 2020 Listing articles published only in 2020 so you can read the most popular recent content Huntington’s Disease Clinical Trials Corner: April 2020 – Openly Available (Clinical Trials Corner in Vol.9, Iss.2, 2020)
Rodrigues, Filipe B. | Wild, Edward J. Large Animal Models of Huntington’s Disease: What We Have Learned and Where We Need to Go Next – Open Access (Review Article in Vol.9, Iss.3, 2020)
Howland, David | Ellederova, Zdenka | Aronin, Neil | Fernau, Deborah | Gallagher, Jill | Taylor, Amanda | Hennebold, Jon | Weiss, A.R. | Gray-Edwards, Heather | McBride, Jodi The Neurodevelopmental Hypothesis of Huntington’s Disease – Open Access (Review Article in Vol.9, Iss.3, 2020)
van der Plas, Ellen | Schultz, Jordan L. | Nopoulos, Peg C. The Ripple Effect: A Qualitative Overview of Challenges When Growing Up in Families Affected by Huntington’s Disease – Openly Available (Research Article in Vol.9, Iss.2, 2020)
Kjoelaas, Siri | Tillerås, Kristine Hansen | Feragen, Kristin Billaud Psychological Interventions for People with Huntington’s Disease: A Call to Arms – Open Access (Review Article in Vol.9, Iss.3, 2020)
Zarotti, Nicolò | Dale, Maria | Eccles, Fiona | Simpson, Jane Biological Aging and the Cellular Pathogenesis of Huntington’s Disease – Open Access (Review Article in Vol.9, Iss.2, 2020)
Machiela, Emily | Southwell, Amber L. | Sign Ups & Social Media Help Spread the News of JHD! | If you know of any colleagues or fellow researchers who are not yet signed up to receive the newsletter, we invite you to share this mailing with them. Click on the sign-up link at the bottom of this email or access here. JHD also has a social media presence! why not take the time today to follow us on Twitter and find us on Facebook? Be part of the discussion! | You are receiving this mailing as you are signed up to receive news from JHD.
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