Antisense oligonucleotide therapy: from design to the Huntington disease clinic
ME Rook, AL Southwell - BioDrugs, 2022 - Springer
Huntington disease (HD) is a fatal progressive neurodegenerative disorder caused by an
inherited mutation in the huntingtin (HTT) gene, which encodes mutant HTT protein. Though …
inherited mutation in the huntingtin (HTT) gene, which encodes mutant HTT protein. Though …
Huntington's disease genetics
RH Myers - NeuroRx, 2004 - Springer
Huntington's disease (HD) is a dominantly transmitted neurodegenerative disorder with wide
variation in onset age but with an average age at onset of 40 years. Children of HD gene …
variation in onset age but with an average age at onset of 40 years. Children of HD gene …
[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 …
Identification of genetic factors that modify clinical onset of Huntington's disease
JM Lee, VC Wheeler, MJ Chao, JPG Vonsattel… - Cell, 2015 - cell.com
As a Mendelian neurodegenerative disorder, the genetic risk of Huntington's disease (HD) is
conferred entirely by an HTT CAG repeat expansion whose length is the primary …
conferred entirely by an HTT CAG repeat expansion whose length is the primary …
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
Huntington's disease (HD) is a neurodegenerative disorder caused by an unstable CAG
repeat. For patients at risk, participating in predictive testing and learning of having CAG …
repeat. For patients at risk, participating in predictive testing and learning of having CAG …
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
US–Venezuela Collaborative … - Proceedings of the …, 2004 - National Acad Sciences
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by
a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important …
a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important …
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is
strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal …
strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal …
Looking backward to move forward: early detection of neurodegenerative disorders
ST DeKosky, K Marek - Science, 2003 - science.org
Early detection of neurodegenerative disorders would provide clues to the underlying
pathobiology of these diseases and would enable more effective diagnosis and treatment of …
pathobiology of these diseases and would enable more effective diagnosis and treatment of …
CAG‐repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches
Huntington disease (HD) is an inherited neuropsychiatric illness caused by polyglutamine
expansion in the gene for the protein huntingtin (HTT)[Huntington's Disease Collaborative …
expansion in the gene for the protein huntingtin (HTT)[Huntington's Disease Collaborative …
[HTML][HTML] Huntington's disease accelerates epigenetic aging of human brain and disrupts DNA methylation levels
Age of Huntington's disease (HD) motoric onset is strongly related to the number of CAG
trinucleotide repeats in the huntingtin gene, suggesting that biological tissue age plays an …
trinucleotide repeats in the huntingtin gene, suggesting that biological tissue age plays an …