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 …
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
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] 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 …
Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum
K Mätlik, M Baffuto, L Kus, AL Deshmukh, DA Davis… - Nature …, 2024 - nature.com
Brain region-specific degeneration and somatic expansions of the mutant Huntingtin (mHTT)
CAG tract are key features of Huntington's disease (HD). However, the relationships among …
CAG tract are key features of Huntington's disease (HD). However, the relationships among …
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin
gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis …
gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis …
Huntington disease
Huntington disease is devastating to patients and their families—with autosomal dominant
inheritance, onset typically in the prime of adult life, progressive course, and a combination …
inheritance, onset typically in the prime of adult life, progressive course, and a combination …
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
M Nakamori, GB Panigrahi, S Lanni, T Gall-Duncan… - Nature …, 2020 - nature.com
In many repeat diseases, such as Huntington's disease (HD), ongoing repeat expansions in
affected tissues contribute to disease onset, progression and severity. Inducing contractions …
affected tissues contribute to disease onset, progression and severity. Inducing contractions …
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1
R Mouro Pinto, L Arning, JV Giordano… - Human molecular …, 2020 - academic.oup.com
The expanded HTT CAG repeat causing Huntington's disease (HD) exhibits somatic
expansion proposed to drive the rate of disease onset by eliciting a pathological process …
expansion proposed to drive the rate of disease onset by eliciting a pathological process …
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
C Bettencourt, D Hensman‐Moss, M Flower… - Annals of …, 2016 - Wiley Online Library
Objective The polyglutamine diseases, including Huntington's disease (HD) and multiple
spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative …
spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative …
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·
CTG repeat expansion disorders Huntington's disease and myotonic dystrophy type 1. A …
CTG repeat expansion disorders Huntington's disease and myotonic dystrophy type 1. A …