日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

亨廷顿病 LIG1 修饰基因变体可提高连接酶的保真度并抑制体细胞 CAG 重复序列扩增。

Lee, Eunhye; Kim, Wonju; Beier, David H; Lee, Yejin; Kovalenko, Marina; Saif, Faaiza; Oliver, Esaria; Srinageshwar, Bhairavi; Murtha, Ryan; Andrew, Marissa A; Jiang, Andrew; Gillis, Tammy; Demelo, Brigitte; Ruliera, Jayla; Lucente, Diane; Kwak, Seung; Lee, Ramee; Pinto, Ricardo Mouro; MacDonald, Marcy E; Gusella, James F; O'Brien, Patrick J; Wheeler, Vanessa C; Seong, Ihn Sik

Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding.

通过转录抑制和直接 CAG 重复序列结合抑制亨廷顿病体细胞不稳定性。

Mathews Ella W, Coffey Sydney R, Gärtner Annette, Belgrad Jillian, Bragg Robert M, O'Reilly Daniel, Cantle Jeffrey P, McHugh Cassandra, Summers Ashley, Fentz Joachim, Schwagarus Tom, Cornelius Antje, Lingos Ioannis, Burch Zoe, Kovalenko Marina, Andrew Marissa A, Bennett C Frank, Kordasiewicz Holly B, Marchionini Deanna M, Wilkinson Hilary, Vogt Thomas F, Beuzer Paolo, Pinto Ricardo M, Khvorova Anastasia, Howland David, Wheeler Vanessa C, Carroll Jeffrey B

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

亨廷顿病 LIG1 修饰变体可提高连接酶的保真度并抑制体细胞 CAG 重复扩增

Lee Eunhye, Kim Wonju, Beier David H, Lee Yejin, Kovalenko Marina, Saif Faaiza, Oliver Esaria, Murtha Ryan, Andrew Marissa A, Gillis Tammy, Demelo Brigitte, Srinageshwar Bhairavi, Ruliera Jayla, Lucente Diane, Kwak Seung, Lee Ramee, Pinto Ricardo Mouro, MacDonald Marcy E, Gusella James F, O'Brien Patrick J, Wheeler Vanessa C, Seong Ihn Sik

CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis

亨廷顿病基因中CAG重复序列的扩增影响线性和环状RNA的生物合成。

Ayyildiz, Dilara; Bergonzoni, Guendalina; Monziani, Alan; Tripathi, Takshashila; Döring, Jessica; Kerschbamer, Emanuela; Di Leva, Francesca; Pennati, Elia; Donini, Luisa; Kovalenko, Marina; Zasso, Jacopo; Conti, Luciano; Wheeler, Vanessa C; Dieterich, Christoph; Piazza, Silvano; Dassi, Erik; Biagioli, Marta

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

亨廷顿病中的体细胞CAG重复序列扩增依赖于MLH3核酸内切酶结构域,而该结构域可通过剪接重定向而被排除。

Roy, Jennie C L; Vitalo, Antonia; Andrew, Marissa A; Mota-Silva, Eduarda; Kovalenko, Marina; Burch, Zoe; Nhu, Anh M; Cohen, Paula E; Grabczyk, Ed; Wheeler, Vanessa C; Mouro Pinto, Ricardo

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out

在亨廷顿病敲入小鼠中,Fan1 敲除促进体细胞 CAG 重复序列扩增的现象可被 Mlh1 敲除阻断。

Loupe, Jacob M; Pinto, Ricardo Mouro; Kim, Kyung-Hee; Gillis, Tammy; Mysore, Jayalakshmi S; Andrew, Marissa A; Kovalenko, Marina; Murtha, Ryan; Seong, IhnSik; Gusella, James F; Kwak, Seung; Howland, David; Lee, Ramee; Lee, Jong-Min; Wheeler, Vanessa C; MacDonald, Marcy E

HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction

HttQ111/+亨廷顿病敲入小鼠表现出脑区特异性形态学改变和突触功能障碍

Kovalenko, Marina; Milnerwood, Austen; Giordano, James; St Claire, Jason; Guide, Jolene R; Stromberg, Mary; Gillis, Tammy; Sapp, Ellen; DiFiglia, Marian; MacDonald, Marcy E; Carroll, Jeffrey B; Lee, Jong-Min; Tappan, Susan; Raymond, Lynn; Wheeler, Vanessa C

High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds

在多种遗传背景下,对亨廷顿病CAG敲入小鼠的早期转录组、分子和细胞表型进行高分辨率时间序列映射

Ament, Seth A; Pearl, Jocelynn R; Grindeland, Andrea; St Claire, Jason; Earls, John C; Kovalenko, Marina; Gillis, Tammy; Mysore, Jayalakshmi; Gusella, James F; Lee, Jong-Min; Kwak, Seung; Howland, David; Lee, Min Young; Baxter, David; Scherler, Kelsey; Wang, Kai; Geman, Donald; Carroll, Jeffrey B; MacDonald, Marcy E; Carlson, George; Wheeler, Vanessa C; Price, Nathan D; Hood, Leroy E

Chromosome substitution strain assessment of a Huntington's disease modifier locus

亨廷顿病修饰基因位点的染色体置换株评估

Ramos, Eliana Marisa; Kovalenko, Marina; Guide, Jolene R; St Claire, Jason; Gillis, Tammy; Mysore, Jayalakshmi S; Sequeiros, Jorge; Wheeler, Vanessa C; Alonso, Isabel; MacDonald, Marcy E