2026
article
OpenAlex
Jillian Belgrad, Ashley Summers, Christian Landles, Jonathan Greene et autres
Huntington's disease (HD) is a progressive neurodegenerative disorder with no approved therapies. Despite multiple clinical trials, huntingtin (HTT)-lowering strategies have yet to show meaningful clinical benefit. Both somatic expansion and toxic HTT species are key molecular drivers of HD, yet therapeutic strategies …
us, gb
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Accès ouvert
2026
article
OpenAlex
Camilla Maffezzini, Raffaele Iennaco, Andrea Scolz, Simone Maestri et autres
Expansion of CAG repeats in HTT exon 1 is the acknowledged driver of Huntington’s disease. Alternative processing of HTT pre-mRNA generates the truncated HTT1a transcript, translated into a toxic peptide. While its dependence on CAG length is well documented, the role of …
it, gb, se, us
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Accès ouvert
2026
article
OpenAlex
Georgina F Osborne, Edward J. Smith, Kirupa Sathasivam, Xinin Kang et autres
Abstract Huntington’s disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the huntingtin (HTT) gene, encoding an expanded polyglutamine tract in the huntingtin (HTT) protein. The pathogenic CAG repeat of HTT is unstable and undergoes …
gb
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Accès ouvert
2025
preprint
OpenAlex
Robert M. Bragg, Christian Landles, E. J. Smith, Georgina F Osborne et autres
Abstract Huntington’s disease (HD) arises from the toxic gain of function caused by a CAG expansion in the coding region of the HTT gene. HD is increasingly appreciated to emerge from multiple pathogenic processes, including somatic instability in mutant HTT’s ( mHTT …
us, gb
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Accès ouvert
2025
preprint
OpenAlex
Jillian Belgrad, Ashley Summers, Christian Landles, Jonathan Greene et autres
Huntington's disease (HD) is a progressive neurodegenerative disorder with no approved therapies. Two major molecular drivers-somatic expansion of inherited CAG repeats and toxic mutant HTT (mHTT) variants-lead to neuronal dysfunction. Despite multiple trials, HTT-lowering strategies have not shown meaningful clinical benefit. Using …
us, gb
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Accès ouvert
2025
preprint
OpenAlex
Aikaterini S. Papadopoulou, Julia F. Alterman, Christian Landles, Edward J. Smith et autres
Abstract Lowering the levels of HTT transcripts has been a major focus of therapeutic development for Huntington’s disease (HD), but which transcript should be lowered? HD is caused by a CAG repeat expansion in exon 1 of the HTT gene, and the …
gb, in, us, pk
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2024
conference-abstract
OpenAlex
Casandra Gomez-Paredes, Kirupa Sathasivam, Aikaterini S. Papadopoulou, Sandra Fieńko et autres
Background Mouse embryonic fibroblasts (MEFs) have been isolated from the widely studied Huntington’s disease (HD) mouse models zQ175 and YAC128. zQ175 knock-in mice contain a mutated version of human HTT exon 1 integrated into mouse Htt and carry approximately 175-200 CAGs. YAC128 …
gb
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Accès ouvert
2024
conference-paper
OpenAlex
Christian Landles, Georgina F Osborne, Jemima Phillips, Maria Canibano Pico et autres
Background The Huntington’s disease CAG repeat expansion is unstable and expands in brain and peripheral tissues throughout life. The rate of somatic expansion drives the age of onset and rate of disease progression. Mutant HTT pre-mRNA can be alternatively processed to generate …
gb
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Accès ouvert
2024
conference-abstract
OpenAlex
Sarah G. Aldous, Edward J. Smith, Christian Landles, Georgina F Osborne et autres
Background The Huntington’s disease (HD) mutation is a CAG repeat expansion that encodes for an expanded polyglutamine tract. The CAG repeat is unstable, and expansions of hundreds of CAGs have been detected in HD post-mortem brains. Mismatch repair genes, including MSH3, known …
gb, us
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Accès ouvert
2024
conference-paper
OpenAlex
E. J. Smith, Kirupa Sathasivam, Christian Landles, Georgina F Osborne et autres
Background Huntington-lowering approaches are a major focus for therapeutic intervention for Huntington’s disease. In evaluating these treatments, it will be important to understand how the targeting strategy affects (1) levels of the HTT1a and full-length HTT transcripts, (2) the soluble HTTexon1 and …
gb
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Accès ouvert
2024
article
OpenAlex
Marina Sogorb-González, Christian Landles, Nicholas S. Caron, Anouk Stam et autres
Huntington's disease (HD) is a fatal neurodegenerative disease caused by a trinucleotide repeat expansion in exon 1 of the huntingtin gene (HTT) that results in toxic gain of function and cell death. Despite its monogenic cause, the pathogenesis of HD is highly …
nl, gb, ca, us
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Accès ouvert
2024
preprint
OpenAlex
Christian Landles, Georgina F Osborne, Jemima Phillips, Maria Canibano Pico et autres
ABSTRACT Huntington’s disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the HTT protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved …
gb, us
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