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Items: 1 to 20 of 67

1.
Myeloid and lymphoid expression of C9orf72 regulates IL-17A signaling in mice
Francesco Limone, Alexander Couto, Jin-Yuan Wang, Yingying Zhang, Blake McCourt, Cerianne Huang, Adina Minkin, Marghi Jani, Sarah McNeer, James Keaney, Gaëlle Gillet, Rodrigo Lopez Gonzalez, Wendy A. Goodman, Irena Kadiu, Kevin Eggan, Aaron Burberry
Sci Transl Med. Author manuscript; available in PMC 2024 Jul 31.
Published in final edited form as: Sci Transl Med. 2024 Jan 31; 16(732): eadg7895. Published online 2024 Jan 31. doi: 10.1126/scitranslmed.adg7895
PMCID:
PMC11247723
AbstractArticlePDF–3.9M
2.
Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes
Andrew T Nelson, Maria Elena Cicardi, Shashirekha S Markandaiah, John YS Han, Nancy J Philp, Emily Welebob, Aaron R Haeusler, Piera Pasinelli, Giovanni Manfredi, Hibiki Kawamata, Davide Trotti
EMBO Rep. 2024 May; 25(5): 2479–2510. Published online 2024 Apr 29. doi: 10.1038/s44319-024-00140-7
PMCID:
PMC11094177
AbstractArticlePDF–11M
3.
Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice
Aydan Kahriman, James Bouley, Idil Tuncali, Elif O Dogan, Mariana Pereira, Thuyvan Luu, Daryl A Bosco, Samer Jaber, Owen M Peters, Robert H Brown, Jr, Nils Henninger
Brain. 2023 Dec; 146(12): 5139–5152. Published online 2023 Aug 1. doi: 10.1093/brain/awad264
PMCID:
PMC11046056
AbstractArticlePDF–1.2M
4.
PhagoStat a scalable and interpretable end to end framework for efficient quantification of cell phagocytosis in neurodegenerative disease studies
Mehdi Ounissi, Morwena Latouche, Daniel Racoceanu
Sci Rep. 2024; 14: 6482. Published online 2024 Mar 18. doi: 10.1038/s41598-024-56081-7
PMCID:
PMC10948879
AbstractArticlePDF–18M
5.
The C9ORF72 repeat expansion alters neurodevelopment
Eric Hendricks, Alicia M. Quihuis, Shu-Ting Hung, Jonathan Chang, Nomongo Dorjsuren, Balint Der, Kim A. Staats, Yingxiao Shi, Naomi S. Sta Maria, Russell E. Jacobs, Justin K. Ichida
Cell Rep. Author manuscript; available in PMC 2023 Dec 30.
Published in final edited form as: Cell Rep. 2023 Aug 29; 42(8): 112983. Published online 2023 Aug 16. doi: 10.1016/j.celrep.2023.112983
PMCID:
PMC10757587
AbstractArticlePDF–2.1M
6.
ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis
Dan Tang, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li, Yichang Wang, Ying Lu, Jiaming Liu, Hang Liu, Chengbing Tang, Shijian Feng, Xiuju Dong, Liangting Xu, Yike Yin, Shangyu Dang, Xiawei Wei, Haiyan Ren, Biao Dong, Lunzhi Dai, Wei Cheng, Meihua Wan, Zhonghan Li, Jing Chen, Hong Li, Eryan Kong, Kunjie Wang, Kefeng Lu, Shiqian Qi
Proc Natl Acad Sci U S A. 2023 Dec 12; 120(50): e2220496120. Published online 2023 Dec 8. doi: 10.1073/pnas.2220496120
PMCID:
PMC10723147
AbstractArticlePDF–8.3M
7.
Cdk5 phosphorylation‐dependent C9orf72 degradation promotes neuronal death in Parkinson's disease models
Xingfeng Xu, Mao Li, Yan Su, Qi Wang, Peifang Qin, Haitao Huang, Yuting Zhang, Yali Zhou, Jianguo Yan
CNS Neurosci Ther. 2023 Dec; 29(12): 3952–3966. Published online 2023 Jun 23. doi: 10.1111/cns.14319
PMCID:
PMC10651984
AbstractArticlePDF–9.4M
8.
Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice
Yuning Liu, Hong Xing, Alexis F Ernst, Canna Liu, Christian Maugee, Fumiaki Yokoi, Madepalli Lakshmana, Yuqing Li
Mol Cell Neurosci. Author manuscript; available in PMC 2023 Jul 26.
Published in final edited form as: Mol Cell Neurosci. 2022 Jul; 121: 103756. Published online 2022 Jul 16. doi: 10.1016/j.mcn.2022.103756
PMCID:
PMC10369482
AbstractArticlePDF–1.5M
9.
C9ORF72 suppresses JAK-STAT mediated inflammation
Weilun Pang, Fenghua Hu
iScience. 2023 May 19; 26(5): 106579. Published online 2023 Apr 6. doi: 10.1016/j.isci.2023.106579
PMCID:
PMC10214391
AbstractArticlePDF–4.6M
10.
Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviors
Li Ma, Chen Liang, Jing Wang, Qing Chang, Yuan Wang, Wei Zhang, Yuanning Du, Jotham Sadan, Jian-Fu Chen
Hum Mol Genet. 2023 Apr 15; 32(8): 1252–1265. Published online 2022 Nov 2. doi: 10.1093/hmg/ddac271
PMCID:
PMC10077508
AbstractArticlePDF–3.1M
11.
C9orf72 functions in the nucleus to regulate DNA damage repair
Liying He, Jiaqi Liang, Chaonan Chen, Jijun Chen, Yihui Shen, Shuangshuang Sun, Lei Li
Cell Death Differ. 2023 Mar; 30(3): 716–730. Published online 2022 Oct 11. doi: 10.1038/s41418-022-01074-0
PMCID:
PMC9984389
AbstractArticlePDF–7.0M
12.
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD
Claudia S. Bauer, Rebecca N. Cohen, Francesca Sironi, Matthew R. Livesey, Thomas H. Gillingwater, J. Robin Highley, Daniel J. Fillingham, Ian Coldicott, Emma F. Smith, Yolanda B. Gibson, Christopher P. Webster, Andrew J. Grierson, Caterina Bendotti, Kurt J. De Vos
Acta Neuropathol. 2022; 144(3): 437–464. Published online 2022 Jul 25. doi: 10.1007/s00401-022-02470-z
PMCID:
PMC9381633
AbstractArticlePDF–11M
13.
Loss of C9orf72 in Microglia Drives Neuronal Injury by Enhancing Synaptic Pruning in Aged and Alzheimer’s Disease Mice
Mengmeng Wang, Yuanyuan Jiang, Zhihui Huang
Neurosci Bull. 2022 Mar; 38(3): 327–330. Published online 2021 Nov 16. doi: 10.1007/s12264-021-00796-4
PMCID:
PMC8975903
ArticlePDF–333K
14.
C9orf72 Regulates Energy Homeostasis by Stabilizing Mitochondrial Complex I Assembly
Tao Wang, Honghe Liu, Kie Itoh, Sungtaek Oh, Liang Zhao, Daisuke Murata, Hiromi Sesaki, Thomas Hartung, Chan Hyun Na, Jiou Wang
Cell Metab. Author manuscript; available in PMC 2022 Mar 2.
Published in final edited form as: Cell Metab. 2021 Mar 2; 33(3): 531–546.e9. Published online 2021 Feb 4. doi: 10.1016/j.cmet.2021.01.005
PMCID:
PMC8579819
AbstractArticlePDF–3.1M
15.
C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis
Qiang Shao, Mei Yang, Chen Liang, Li Ma, Wei Zhang, Zhiwen Jiang, Jun Luo, Jae-Kyung Lee, Chengyu Liang, Jian-Fu Chen
Autophagy. 2020; 16(9): 1635–1650. Published online 2019 Dec 26. doi: 10.1080/15548627.2019.1703353
PMCID:
PMC8386604
AbstractArticlePDF–5.4M
16.
C9orf72 deficiency promotes microglial mediated synaptic loss in aging and amyloid accumulation
Deepti Lall, Ileana Lorenzini, Thomas A. Mota, Shaughn Bell, Thomas E. Mahan, Jason D. Ulrich, Hayk Davtyan, Jessica E. Rexach, A.K.M. Ghulam Muhammad, Oksana Shelest, Jesse Landeros, Michael Vazquez, Junwon Kim, Layla Ghaffari, Jacqueline Gire O’Rourke, Daniel H. Geschwind, Mathew Blurton-Jones, David M. Holtzman, Rita Sattler, Robert H. Baloh
Neuron. Author manuscript; available in PMC 2022 Jul 21.
Published in final edited form as: Neuron. 2021 Jul 21; 109(14): 2275–2291.e8. Published online 2021 Jun 15. doi: 10.1016/j.neuron.2021.05.020
PMCID:
PMC8298293
AbstractArticlePDF–3.8M
17.
Survival and motor phenotypes in FVB C9-500 ALS/FTD BAC transgenic mice reproduced by multiple labs
Lien Nguyen, Lauren A. Laboissonniere, Shu Guo, Federica Pilotto, Olivier Scheidegger, Angelina Oestmann, Jennetta W. Hammond, Herman Li, Anu Hyysalo, Roosa Peltola, Amrutha Pattamatta, Tao Zu, Merja H. Voutilainen, Harris A. Gelbard, Smita Saxena, Laura P.W. Ranum
Neuron. Author manuscript; available in PMC 2021 Nov 25.
Published in final edited form as: Neuron. 2020 Nov 25; 108(4): 784–796.e3. Published online 2020 Oct 5. doi: 10.1016/j.neuron.2020.09.009
PMCID:
PMC8281452
AbstractArticlePDF–3.4M
18.
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)
Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, Lisa Nakayama, Yong-Jie Zhang, Julien Couthouis, Jacob A. Blum, Patricia A. Castruita, Gabriel R. Linares, Kai Ruan, Gokul Ramaswami, David J. Simon, Aviv Nof, Manuel Santana, Kyuho Han, Nasa Sinnott-Armstrong, Michael C. Bassik, Daniel H. Geschwind, Marc Tessier-Lavigne, Laura D. Attardi, Thomas E. Lloyd, Justin K. Ichida, Fen-Biao Gao, William J. Greenleaf, Jennifer S. Yokoyama, Leonard Petrucelli, Aaron D. Gitler
Cell. Author manuscript; available in PMC 2022 Feb 4.
Published in final edited form as: Cell. 2021 Feb 4; 184(3): 689–708.e20. Published online 2021 Jan 21. doi: 10.1016/j.cell.2020.12.025
PMCID:
PMC7886018
AbstractArticlePDF–2.7M
19.
C9orf72 in myeloid cells suppresses STING-induced inflammation
Madelyn E. McCauley, Jacqueline Gire O’Rourke, Alberto Yáñez, Janet L. Markman, Ritchie Ho, Xinchen Wang, Shuang Chen, Deepti Lall, Mengyao Jin, A.K.M.G Muhammad, Shaughn Bell, Jesse Landeros, Viviana Valencia, Matthew Harms, Moshe Arditi, Caroline Jefferies, Robert H. Baloh
Nature. Author manuscript; available in PMC 2021 Feb 19.
Published in final edited form as: Nature. 2020 Sep; 585(7823): 96–101. Published online 2020 Aug 19. doi: 10.1038/s41586-020-2625-x
PMCID:
PMC7484469
ArticlePDF–4.7M
20.
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch, Karen Jansen-West, Jimei Tong, Mei Yue, Yuping Song, Monica Castanedes-Casey, Aishe Kurti, Judith H. Dunmore, John D. Fryer, Yong-Jie Zhang, Beatriz San Millan, Susana Teijeira Bautista, Manuel Arias, Dennis Dickson, Tania F. Gendron, María-Jesús Sobrido, Matthew D. Disney, Gary J. Bassell, Wilfried Rossoll, Leonard Petrucelli
Cell Rep. Author manuscript; available in PMC 2020 Sep 9.
Published in final edited form as: Cell Rep. 2020 May 5; 31(5): 107616. doi: 10.1016/j.celrep.2020.107616
PMCID:
PMC7480900
AbstractArticlePDF–1.2M

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