Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities
Huntington's disease is the most frequent autosomal dominant neurodegenerative disorder;
however, no disease-modifying interventions are available for patients with this disease. The …
however, no disease-modifying interventions are available for patients with this disease. The …
Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
Huntington's disease: a clinical review
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a
dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on …
dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on …
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
[HTML][HTML] Huntingtin lowering strategies for disease modification in Huntington's disease
SJ Tabrizi, R Ghosh, BR Leavitt - Neuron, 2019 - cell.com
Huntington's disease is caused by an abnormally expanded CAG repeat expansion in the
HTT gene, which confers a predominant toxic gain of function in the mutant huntingtin …
HTT gene, which confers a predominant toxic gain of function in the mutant huntingtin …
[HTML][HTML] CAG repeat not polyglutamine length determines timing of Huntington's disease onset
Variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted
HTT CAG repeat sequence, distinct from the length of huntingtin's polyglutamine segment …
HTT CAG repeat sequence, distinct from the length of huntingtin's polyglutamine segment …
Mechanisms of DNA damage‐mediated neurotoxicity in neurodegenerative disease
G Welch, LH Tsai - EMBO reports, 2022 - embopress.org
Neurons are highly susceptible to DNA damage accumulation due to their large energy
requirements, elevated transcriptional activity, and long lifespan. While newer research has …
requirements, elevated transcriptional activity, and long lifespan. While newer research has …
[HTML][HTML] Common disease is more complex than implied by the core gene omnigenic model
The evidence that most adult-onset common diseases have a polygenic genetic architecture
fully consistent with robust biological systems supported by multiple back-up mechanisms is …
fully consistent with robust biological systems supported by multiple back-up mechanisms is …
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 …
by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG …