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

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis

TRACE:用于通过毛细管电泳定量串联重复序列体细胞变异的开源软件

Jiang, Andrew; Correia, Kevin; Gillis, Tammy; Oliver, Esaria L; Jones, Benjamin P; McAllister, Branduff; Maza, Alan Mejia; MacDonald, Marcy E; Pinto, Ricardo Mouro; Wheeler, Vanessa C; Gusella, James F; McLean, Zachariah L

Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders

聚甘氨酸介导的FAM98B聚集会破坏GGC重复序列疾病中的tRNA加工。

Yang, Jason; Xu, Yunhan; Ziehr, David R; Taylor, Martin S; Valenstein, Max L; Frenkel, Evgeni M; Bush, Jack R; Rutter, Kate; Stevanovski, Igor; Shi, Charlie Y; Kesavan, Maheswaran; Pinto, Ricardo Mouro; Deveson, Ira; Bartel, David P; Sabatini, David M; Chivukula, Raghu R

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

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

亨廷顿病体细胞扩增和临床表型的遗传修饰因子揭示了共同的和组织特异性的影响。

Lee, Jong-Min; McLean, Zachariah L; Correia, Kevin; Shin, Jun Wan; Lee, Sujin; Jang, Jae-Hyun; Lee, Yukyeong; Kim, Kyung-Hee; Choi, Doo Eun; Long, Jeffrey D; Lucente, Diane; Seong, Ihn Sik; Pinto, Ricardo Mouro; Giordano, James V; Mysore, Jayalakshmi S; Siciliano, Jacqueline; Elezi, Emanuela; Ruliera, Jayla; Gillis, Tammy; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Gatseva, Anna; Ciosi, Marc; Lomeikaite, Vilija; Loay, Hossameldin; Monckton, Darren G; Wills, Christopher; Massey, Thomas H; Jones, Lesley; Holmans, Peter; Kwak, Seung; Sampaio, Cristina; Orth, Michael; Bernhard Landwehrmeyer, G; Paulsen, Jane S; Ray Dorsey, E; Myers, Richard H

Age-dependent increase in tau phosphorylation at serine 396 in Huntington's disease pre-frontal cortex

亨廷顿病前额叶皮层中丝氨酸396位点tau蛋白磷酸化水平随年龄增长而增加

Petrozziello, Tiziana; Huntress, Sommer S; Castillo-Torres, Ayleen L; Quinn, James P; Connors, Theresa R; Auger, Corinne A; Mills, Alexandra N; Kim, Spencer E; Liu, Sophia; Mahmood, Farah; Boudi, Adel; Wu, Muzhou; Sapp, Ellen; Kivisäkk, Pia; Sunderesh, Shekar R; Pouladi, Mahmoud A; Arnold, Steven E; Hyman, Bradley T; Rosas, H Diana; DiFiglia, Marian; Pinto, Ricardo Mouro; Kegel-Gleason, Kimberly; Sadri-Vakili, Ghazaleh

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease

弗里德赖希共济失调和脆性X染色体相关疾病小鼠模型中体细胞重复序列不稳定性修饰因子:对亨廷顿病体细胞扩增机制的启示

Zhao, Xiaonan; Kumari, Daman; Miller, Carson J; Kim, Geum-Yi; Hayward, Bruce; Vitalo, Antonia G; Pinto, Ricardo Mouro; Usdin, Karen

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

对 HTT CAG 重复序列扩增进行测序并量化重复序列长度变异的方法

Ciosi, Marc; Cumming, Sarah A; Chatzi, Afroditi; Larson, Eloise; Tottey, William; Lomeikaite, Vilija; Hamilton, Graham; Wheeler, Vanessa C; Pinto, Ricardo Mouro; Kwak, Seung; Morton, A Jennifer; Monckton, Darren G

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease

亨廷顿病精神和认知症状的遗传风险

Ellis, Natalie; Tee, Amelia; McAllister, Branduff; Massey, Thomas; McLauchlan, Duncan; Stone, Timothy; Correia, Kevin; Loupe, Jacob; Kim, Kyung-Hee; Barker, Douglas; Hong, Eun Pyo; Chao, Michael J; Long, Jeffrey D; Lucente, Diane; Vonsattel, Jean Paul G; Pinto, Ricardo Mouro; Elneel, Kawther Abu; Ramos, Eliana Marisa; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Wheeler, Vanessa C; Medway, Christopher; Hall, Lynsey; Kwak, Seung; Sampaio, Cristina; Ciosi, Marc; Maxwell, Alastair; Chatzi, Afroditi; Monckton, Darren G; Orth, Michael; Landwehrmeyer, G Bernhard; Paulsen, Jane S; Shoulson, Ira; Myers, Richard H; van Duijn, Erik; Rickards, Hugh; MacDonald, Marcy E; Lee, Jong-Min; Gusella, James F; Jones, Lesley; Holmans, Peter

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