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

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

C9orf72衍生的含精氨酸二肽重复序列与轴突运输机制结合,阻碍微管介导的运动。

Laura Fumagalli,Florence L Young,Steven Boeynaems,Mathias De Decker,Arpan R Mehta,Ann Swijsen,Raheem Fazal,Wenting Guo,Matthieu Moisse,Jimmy Beckers,Lieselot Dedeene,Bhuvaneish T Selvaraj,Tijs Vandoorne,Vanesa Madan,Marka van Blitterswijk,Denitza Raitcheva,Alexander McCampbell,Koen Poesen,Aaron D Gitler,Philipp Koch,Pieter Vanden Berghe,Dietmar Rudolf Thal,Catherine Verfaillie,Siddharthan Chandran,Ludo Van Den Bosch,Simon L Bullock,Philip Van Damme

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

作为国际 FTLD-TDP 全基因组测序联盟的一部分,全基因组分析揭示了新的疾病风险因素,并增加了对 FTLD 免疫功能障碍的支持

Cyril Pottier, Yingxue Ren, Ralph B Perkerson 3rd, Matt Baker, Gregory D Jenkins, Marka van Blitterswijk, Mariely DeJesus-Hernandez, Jeroen G J van Rooij, Melissa E Murray, Elizabeth Christopher, Shannon K McDonnell, Zachary Fogarty, Anthony Batzler, Shulan Tian, Cristina T Vicente, Billie Matchett,

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

C9orf72 ALS/FTLD 患者脑内重复元素转录本增多

Mercedes Prudencio, Patrick K Gonzales, Casey N Cook, Tania F Gendron, Lillian M Daughrity, Yuping Song, Mark T W Ebbert, Marka van Blitterswijk, Yong-Jie Zhang, Karen Jansen-West, Matthew C Baker, Michael DeTure, Rosa Rademakers, Kevin B Boylan, Dennis W Dickson, Leonard Petrucelli, Christopher D L

Prosaposin is a regulator of progranulin levels and oligomerization

Prosaposin 是前颗粒蛋白水平和寡聚化的调节剂

Alexandra M Nicholson, NiCole A Finch, Marcio Almeida, Ralph B Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R Wood, Timothy M Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M Teslov

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

C9orf72 启动子高甲基化降低,而羟甲基化在 ALS 患者细胞重编程过程中获得

Rustam Esanov, Kinsley C Belle, Marka van Blitterswijk, Veronique V Belzil, Rosa Rademakers, Dennis W Dickson, Leonard Petrucelli, Kevin B Boylan, Derek M Dykxhoorn, Joanne Wuu, Michael Benatar, Claes Wahlestedt, Zane Zeier

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

全基因组测序揭示 TBK1 和 OPTN 突变在无运动神经元疾病的额颞叶变性中起重要作用

Cyril Pottier, Kevin F Bieniek, NiCole Finch, Maartje van de Vorst, Matt Baker, Ralph Perkersen, Patricia Brown, Thomas Ravenscroft, Marka van Blitterswijk, Alexandra M Nicholson, Michael DeTure, David S Knopman, Keith A Josephs, Joseph E Parisi, Ronald C Petersen, Kevin B Boylan, Bradley F Boeve, N

Jump from pre-mutation to pathologic expansion in C9orf72

C9orf72 从突变前跃升至病理性扩增

Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, Philip McGoldrick, Jesse R McLean, Yana Yunusova, Erin Knock, Danielle Moreno, Christine Sato, Paul M McKeever, Raphael Schneider, Julia Keith, Nicolae Petrescu, Paul Fraser, Maria Carmela Tartaglia, Matthew C Baker, Neill R Graff-Radford, Kevin B Boy

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

溴结构域抑制剂调节 ALS 中的 C9ORF72 基因座

Zane Zeier, Rustam Esanov, Kinsley C Belle, Claude-Henry Volmar, Andrea L Johnstone, Paul Halley, Brooke A DeRosa, Nathalie Khoury, Marka van Blitterswijk, Rosa Rademakers, Jeffrey Albert, Shaun P Brothers, Joanne Wuu, Derek M Dykxhoorn, Michael Benatar, Claes Wahlestedt

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

扩增的 C9ORF72 六核苷酸的反义转录本重复形成核 RNA 焦点,并在 c9FTD/ALS 中进行重复相关的非 ATG 翻译

Tania F Gendron, Kevin F Bieniek, Yong-Jie Zhang, Karen Jansen-West, Peter E A Ash, Thomas Caulfield, Lillian Daughrity, Judith H Dunmore, Monica Castanedes-Casey, Jeannie Chew, Danielle M Cosio, Marka van Blitterswijk, Wing C Lee, Rosa Rademakers, Kevin B Boylan, Dennis W Dickson, Leonard Petrucell

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72

进行性遗忘性痴呆、海马硬化和 C9ORF72 突变

Melissa E Murray, Kevin F Bieniek, M Banks Greenberg, Mariely DeJesus-Hernandez, Nicola J Rutherford, Marka van Blitterswijk, Ellis Niemantsverdriet, Peter E Ash, Tania F Gendron, Naomi Kouri, Matt Baker, Ira J Goodman, Leonard Petrucelli, Rosa Rademakers, Dennis W Dickson