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Select item 107575871.

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

Abstract Article PDF–2.1M

Select item 106519842.

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

Abstract Article PDF–9.4M

Select item 103694823.

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

Abstract Article PDF–1.5M

Select item 102143914.

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

Abstract Article PDF–4.6M

Select item 99843895.

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

Abstract Article PDF–7.0M

Select item 93816336.

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

Abstract Article PDF–11M

Select item 89759037.

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

Article PDF–333K

Select item 85798198.

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

Abstract Article PDF–3.1M

Select item 83866049.

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

Abstract Article PDF–5.4M

Select item 829829310.

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

Abstract Article PDF–3.8M

Select item 828145211.

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

Abstract Article PDF–3.4M

Select item 788601812.

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

Abstract Article PDF–2.7M

Select item 748446913.

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

Article PDF–4.7M

Select item 748090014.

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

Abstract Article PDF–1.2M

Select item 747381515.

Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis

Wan Yun Ho, Sheeja Navakkode, Fujia Liu, Tuck Wah Soong, Shuo-Chien Ling

Acta Neuropathol Commun. 2020; 8: 155. Published online 2020 Sep 4. doi: 10.1186/s40478-020-01030-4

PMCID:: PMC7473815

Abstract Article PDF–1.2M

Select item 741687916.

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

Aaron Burberry, Michael F. Wells, Francesco Limone, Alexander Couto, Kevin S. Smith, James Keaney, Gaëlle Gillet, Nick van Gastel, Jin-Yuan Wang, Olli Pietilainen, Menglu Qian, Pierce Eggan, Christopher Cantrell, Joanie Mok, Irena Kadiu, David T. Scadden, Kevin Eggan

Nature. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nature. 2020 Jun; 582(7810): 89–94. Published online 2020 May 13. doi: 10.1038/s41586-020-2288-7

PMCID:: PMC7416879

Abstract Article PDF–2.8M

Select item 741415617.

Metformin inhibits RAN translation through PKR pathway and mitigates disease in C9orf72 ALS/FTD mice

Tao Zu, Shu Guo, Olgert Bardhi, Daniel A. Ryskamp, Jian Li, Solaleh Khoramian Tusi, Avery Engelbrecht, Kelena Klippel, Paramita Chakrabarty, Lien Nguyen, Todd E. Golde, Nahum Sonenberg, Laura P. W. Ranum

Proc Natl Acad Sci U S A. 2020 Aug 4; 117(31): 18591–18599. Published online 2020 Jul 20. doi: 10.1073/pnas.2005748117

PMCID:: PMC7414156

Abstract Article PDF–2.1M

Select item 733517118.

C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression

Yu Sun, Aziz Eshov, Jeffrey Zhou, Atagun U. Isiktas, Junjie U. Guo

Nat Commun. 2020; 11: 3354. Published online 2020 Jul 3. doi: 10.1038/s41467-020-17129-0

Correction in:: Nat Commun. 2022; 13: 279.

PMCID:: PMC7335171

Abstract Article PDF–2.6M

Select item 728219519.

Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models

Chen Liang, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen, Jian-Fu Chen

Hum Mol Genet. 2019 Dec 1; 28(23): 3940–3953. Published online 2019 Oct 18. doi: 10.1093/hmg/ddz230

Correction in:: Hum Mol Genet. 2020 Apr 15; 29(6): 1056.

PMCID:: PMC7282195

Abstract Article PDF–2.5M

Select item 715696720.

Cell‐to‐cell transmission of C9orf72 poly‐(Gly‐Ala) triggers key features of ALS/FTD

Bahram Khosravi, Kathrine D LaClair, Henrick Riemenschneider, Qihui Zhou, Frédéric Frottin, Nikola Mareljic, Mareike Czuppa, Daniel Farny, Hannelore Hartmann, Meike Michaelsen, Thomas Arzberger, F Ulrich Hartl, Mark S Hipp, Dieter Edbauer

EMBO J. 2020 Apr 15; 39(8): e102811. Published online 2020 Mar 16. doi: 10.15252/embj.2019102811

PMCID:: PMC7156967

Abstract Article PDF–2.4M

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Homo sapiens cDNA FLJ56782 complete cds, moderately similar to Mus musculus expe...
Homo sapiens cDNA FLJ56782 complete cds, moderately similar to Mus musculus experimental autoimmune prostatitis antigen 2 (Eapa2), mRNA
gi|221039937|dbj|AK294312.1|

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