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Biochemical and Biophysical Research Communications|November 4, 2019
Ultrasensitive quantitative measurement of huntingtin phosphorylation at residue S13Cristina Cariulo, Margherita Verani, Paola Martufi, et al.
Human Molecular Genetics|July 31, 2022
Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550Yejin Lee, Hyeongju Kim, Douglas Barker, et al.
Human Molecular Genetics|September 3, 2020
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-outJacob M Loupe, Ricardo Mouro Pinto, Kyung-Hee Kim, et al.
Human Molecular Genetics|February 7, 2017
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levelsAram Shin, Baehyun Shin, Jun Wan Shin, et al.
Human Molecular Genetics|October 15, 2025
Genetic dissection of Huntington's disease modification by variation at RRM2BKiuk Lee, Baehyun Shin, Mingyu Kim, et al.
American Journal of Human Genetics|June 27, 2020
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier EffectsKyung-Hee Kim, Eun Pyo Hong, Jun Wan Shin, et al.
Human Molecular Genetics|January 12, 2021
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphsRoy Jung, Yejin Lee, Douglas Barker, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2024
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's diseaseKyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, et al.
Biorxiv : the Preprint Server for Biology|August 12, 2025
Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansionEunhye Lee, Wonju Kim, David H Beier, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 2, 2026
Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansionEunhye Lee, Wonju Kim, David H Beier, et al.
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