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

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

MSH3 是 X 连锁肌张力障碍帕金森病中体细胞重复序列不稳定性的一种遗传修饰因子。

Mejia Maza Alan, Hincher Madison, Correia Kevin, Gillis Tammy, Nishiyama Ayumi, Penney Ellen B, Domingo Aloysius, Yadav Rachita, Murcar Micaela G, Villafria Mercado Patrick D, Han Justin S, Norenberg Ean P, Fernandez-Cerado Cara, Legarda G Paul, Sy Michelle, Muñoz Edwin L, Ang Mark C, Diesta Cid Czarina E, Go Criscely, Sharma Nutan, Bragg D Cristopher, Talkowski Michael E, MacDonald Marcy E, Lee Jong-Min, Ozelius Laurie J, Wheeler Vanessa Chantal

Engineering of CD63 Enables Selective Extracellular Vesicle Cargo Loading and Enhanced Payload Delivery.

CD63 的工程改造可实现选择性细胞外囊泡货物装载和增强有效载荷递送

Obuchi Wataru, Zargani-Piccardi Ayrton, Leandro Kevin, Rufino-Ramos David, Di Lanni Emilio, Frederick Dawn Madison, Maalouf Katia, Nieland Lisa, Xiao Tianhe, Repiton Pierre, Vaine Christine A, Kleinstiver Benjamin P, Bragg D Cristopher, Lee Hakho, Miller Miles A, Breakefield Xandra O, Breyne Koen

Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model

在异种移植小鼠模型中,通过非侵入性方法检测 TOR1A DYT1 等位基因的等位基因特异性 CRISPR-SaCas9-KKH 破坏

Katia E Maalouf ,Dawn Madison Frederick ,Nutan Sharma ,Edwina Abou Haidar ,Tianhe Xiao ,Justin Seungkyu Han ,Mohammed S Mahamdeh ,Roy J Soberman ,David Rufino-Ramos ,Benjamin P Kleinstiver ,Hyder A Jinnah ,Christine A Vaine ,D Cristopher Bragg ,Koen Breyne

Intracellular and Extracellular Vesicle miRNA Signatures in Human iPSC-Derived Neural Stem Cells and Floor Plate Progenitors.

人类 iPSC 衍生的神经干细胞和底板祖细胞的细胞内和细胞外囊泡 miRNA 特征

Cruz Lilian, Ferreira Frederico Moraes, Lopes-Ramos Camila Miranda, Wei Zhiyun, Hendriks William T, Jinnah H A, Nakaya Helder I, Bragg D Cristopher, Krichevsky Anna M, Breakefield Xandra Owens, Hohmuth Lopes Marilene

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

MSH3是X连锁肌张力障碍帕金森病中体细胞重复序列不稳定性的一种遗传修饰因子。

Maza, Alan Mejia; Hincher, Madison; Correia, Kevin; Gillis, Tammy; Nishiyama, Ayumi; Penney, Ellen B; Domingo, Aloysius; Yadav, Rachita; Murcar, Micaela G; Mercado, Patrick D Villafria; Han, Justin S; Norenberg, Ean P; Fernandez-Cerado, Cara; Legarda, G Paul; Sy, Michelle; Muñoz, Edwin; Ang, Mark C; Diesta, Cid Czarina E; Go, Criscely; Sharma, Nutan; Bragg, D Cristopher; Talkowski, Michael E; MacDonald, Marcy E; Lee, Jong-Min; Ozelius, Laurie J; Wheeler, Vanessa Chantal

Myelin pathology is a key feature of X-linked Dystonia Parkinsonism

髓鞘病变是X连锁肌张力障碍帕金森综合征的关键特征。

Prakash, Priya; Limberg, Kerry C; Zhang, Weimin; Zhao, Yu; Laborc, Klaudia F; O'Keeffe, Anna; Vilnaigre, Bryanna C; Appleby, Heather; O'Dea, Michael R; Fernandez-Cerado, Cara; Legarda, Gierold Paul A; Sy, Michelle; Muñoz, Edwin L; Ang, Mark Angelo C; Diesta, Cid Czarina E; Han, Justin; Norenberg, Ean; Penney, Ellen B; Bragg, D Cristopher; Mar, Adam C; Brosh, Ran; Boeke, Jef D; Liddelow, Shane A

Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism

针对X连锁肌张力障碍帕金森病中由致命性非编码结构变异引起的替代剪接进行治疗靶向治疗

Yadav, Rachita; Vaine, Christine A; Domingo, Aloysius; Reed, Siddharth; Shah, Shivangi; Gao, Dadi; O'Keefe, Kathryn; Salani, Monica; Lemanski, John; Bhavsar, Riya; McMahon, Moira A; Jackson, Michaela; Courtney, Margo; Murcar, Micaela G; Fernandez-Cerado, Cara; Legarda, Gierold Paul A; Sy, Michelle; Velasco-Andrada, M Salvie; Muñoz, Edwin L; Ang, Mark Angelo C; Diesta, Cid Czarina E; Erdin, Serkan; Penney, Ellen B; Ozelius, Laurie; Sharma, Nutan; Bennett, C Frank; Bragg, D Cristopher; Talkowski, Michael E

Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.

基因组测序用于剖析 SVA 逆转录转座子疾病 X 连锁肌张力障碍帕金森综合征的后果。

Zhang Weimin, Zhao Yu, Prakash Priya, Appleby Heather L, Barriball Kelly, Capponi Simona, Jiang Qingwen, Wudzinska Aleksandra M, Vaine Christine A, Ellis Gwen, Rahman Neha, Markovic Stefan, Mishkit Orin, Limberg Kerry C, Maurano Matthew T, Wadghiri Youssef Z, Kim Sang Yong, Timmers H T Marc, Bragg D Cristopher, Liddelow Shane A, Brosh Ran, Boeke Jef D

G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism

SVA逆转录转座子中的G-四链体导致X连锁肌张力障碍帕金森病中TAF1基因表达异常。

Giulia Nicoletto,Marianna Terreri,Ilaria Maurizio,Emanuela Ruggiero,Filippo M Cernilogar,Christine A Vaine,Maria Vittoria Cottini,Irina Shcherbakova,Ellen B Penney,Irene Gallina,David Monchaud,D Cristopher Bragg,Gunnar Schotta,Sara N Richter

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing

X连锁肌张力障碍帕金森病纹状体神经元的蛋白质组学分析揭示了RNA代谢和剪接的改变

Kizito-Tshitoko Tshilenge ,Joanna Bons ,Carlos Galicia Aguirre ,Cristian Geronimo-Olvera ,Samah Shah ,Jacob Rose ,Akos A Gerencser ,Sally K Mak ,Michelle E Ehrlich ,D Cristopher Bragg ,Birgit Schilling ,Lisa M Ellerby