Integrated genomics and proteomics define huntingtin CAG length–dependent networks in mice
P Langfelder, JP Cantle, D Chatzopoulou… - Nature …, 2016 - nature.com
To gain insight into how mutant huntingtin (mHtt) CAG repeat length modifies Huntington's
disease (HD) pathogenesis, we profiled mRNA in over 600 brain and peripheral tissue …
disease (HD) pathogenesis, we profiled mRNA in over 600 brain and peripheral tissue …
[HTML][HTML] Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice
X Gu, J Richman, P Langfelder, N Wang, S Zhang… - Neuron, 2022 - cell.com
In Huntington's disease (HD), the uninterrupted CAG repeat length, but not the
polyglutamine length, predicts disease onset. However, the underlying pathobiology …
polyglutamine length, predicts disease onset. However, the underlying pathobiology …
[HTML][HTML] 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 …
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 …
Neuronal targets for reducing mutant huntingtin expression to ameliorate disease in a mouse model of Huntington's disease
Huntington's disease (HD) is a fatal dominantly inherited neurodegenerative disorder
caused by a CAG repeat expansion leading to an elongated polyglutamine stretch in …
caused by a CAG repeat expansion leading to an elongated polyglutamine stretch in …
[HTML][HTML] Unbiased profiling of isogenic Huntington disease hPSC-derived CNS and peripheral cells reveals strong cell-type specificity of CAG length effects
J Ooi, SR Langley, X Xu, KH Utami, B Sim, Y Huang… - Cell Reports, 2019 - cell.com
In Huntington disease (HD), the analysis of tissue-specific CAG repeat length effects has
been challenging, given the difficulty in obtaining relevant patient tissues with a broad range …
been challenging, given the difficulty in obtaining relevant patient tissues with a broad range …
Mutant huntingtin is cleared from the brain via active mechanisms in Huntington disease
Huntington disease (HD) is a neurodegenerative disease caused by a CAG trinucleotide
repeat expansion in the huntingtin (HTT) gene. Therapeutics that lower HTT have shown …
repeat expansion in the huntingtin (HTT) gene. Therapeutics that lower HTT have shown …
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out
Recent genome-wide association studies of age-at-onset in Huntington's disease (HD) point
to distinct modes of potential disease modification: altering the rate of somatic expansion of …
to distinct modes of potential disease modification: altering the rate of somatic expansion of …
A modifier of Huntington's disease onset at the MLH1 locus
JM Lee, MJ Chao, D Harold… - Human molecular …, 2017 - academic.oup.com
Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by
an expanded CAG repeat in HTT. Many clinical characteristics of HD such as age at motor …
an expanded CAG repeat in HTT. Many clinical characteristics of HD such as age at motor …
[HTML][HTML] 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 …