A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy
Yang, Mei, Liang, Chen, Swaminathan, Kunchithapadam, Herrlinger, Stephanie, Lai, Fan, Shiekhattar, Ramin, Chen, Jian-Fu·2016·Science Advances
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- Flight to insight: maximizing the potential of Drosophila models of C9orf72-FTDNicole A. d’Almeida, Marla Tipping · 2024 · Frontiers in Molecular Neuroscience
- Development of LNA gapmer oligonucleotide based therapy for FTD/ALS caused by the C9orf72 repeat expansionYoshitsugu Aoki, M. Raquel, Y. Lee, Andrew G. L. Douglas, Misako Aoki, Miguel A. Varela, Chaitra Sathyaprakash, Ruxandra Mutihac, Kevin Talbot, Matthew J. A. Wood · 2015 · Neuromuscular Disorders
- C9orf72 expansions disrupt ATM-mediated DNA repairCallum Walker · 2018 · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)
- Regulation of intracellular traffic by TBK1 and its relevance to ALSDavid Villarroel‐Campos · 2020 · UCL Discovery (University College London)
- Modulating Intra-Nuclear LC3 with Small Molecules Rescues Cells from a Docetaxel-Induced PhenotypeDaniel P. Rosenberg, Likhitha Kolla, David S. Heo, Emily E. Cassio, Matthew J. Veenstra, Maria A. Vakaki, Jibo Zhang, Cyril S. Anyetei‐Anum, Lizabeth A. Allison, William Buchser · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Unraveling molecular biology of C9ORF72 repeat expansions in amyotrophic lateral sclerosis-frontotemporal dementia: Implications for therapyOlubankole Aladesuyi Arogundade, Jie Jiang, John Ravits · 2020 · Elsevier eBooks
- Imaging and Quantifying Neuronal Autophagy to Determine the Autophagy Contribution to Neuronal and Dendritic MorphogenesisWan Yun Ho, Shuo‐Chien Ling · 2021 · Neuromethods
- Implicações de variantes bialélicas de perda de função no gene TBCK, no transporte de vesículas de células progenitoras neurais derivadas de células-tronco pluripotentes induzidasÂngela May Suzuki · 2021 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
- Linkage of proteasomal impairment and autophagy activation by C9orf72 poly-GA aggregate formationMei Pu, Yusi Tai, Luyang Yuan, Yu Zhang, Huijie Guo, Zongbing Hao, Jing Chen, Xinming Qi, Guanghui Wang, Zhouteng Tao et al. · 2022 · Research Square
- Faculty Opinions recommendation of Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.Elizabeth Fisher · 2018 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- C9orf72 Overexpression in Asthenozoospermia: Implications for Spermatogonia Proliferation through mitophagy and glucose metabolismHui Lu, Dongchuan Xu, Liqiang Zhao, Hailing Ruan, Anguo Wang, Yejuan Li, Weiying Lu · 2023 · Research Square
- YPD-29B is an oral Small Molecular Targeting PD-L1 for Treating Human CancersFangfang Lai, Ming Ji, Yuchen Wang, Nina Xue, Lei Huang, Tingting Du, Kai Dong, Xiaoqing Yao, Jing Jin, Zhiqiang Feng et al. · 2024
- Transcriptional profiling of human brain cortex identifies novel lncRNA-mediated networks dysregulated in amyotrophic lateral sclerosisAlessandro Palma, Monica Ballarino · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- RAB39B: A novel biomarker for acute myeloid leukemia identified via multi-omics and functional validationShuo Chen, Mengxing Li, Jishi Wang · 2025 · Open Medicine
- Autophagy and Neurodegenerative DiseasesAntónio Daniel Barbosa, Jennifer E Palmer, Xinyi Li, David Chaim Rubinsztein · 2025 · Learning materials in biosciences
- The C9orf72/SMCR8 complex maintains microglial homeostasis via RAB8A-ESCRT-mediated lysosomal repairShan Li, Shidong Xu, Feng Li, Qirui Zhao, Penghui Zhang, Qinghua Guan, Xiangxiang Sun, Jundong Bi, Hu Xiao, Yiyuli Tang et al. · 2026 · The EMBO Journal
- Exploring bioactive phytochemicals as ULK1 activators for enhancing cytoprotective autophagy in amyotrophic lateral sclerosisFarah Anjum, Nahed Mohammed Hawsawi, Abdulraheem Ali Almalki, Anas Shamsi, Maram Jameel Hulbah, Maha Mahfouz Bakhuraysah, Abdulaziz Alsharif, Taj Mohammad · 2025 · Frontiers in Pharmacology
- A validated antibody toolbox for ALS researchRiham Ayoubi, Emma J. MacDougall, Ian McDowell, Michael Biddle, Bárbara T Ferreira, Congyao Zha, Marie‐France Dorion, Jay P. Ross, Sara González Bolívar, Vera Ruíz Moleón et al. · 2026 · eLife
- Additional file 1 of Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesisWan Yun Ho, Sheeja Navakkode, Liu, Fujia, Soong, Tuck Wah, Ling, Shuo-Chien · 2020 · Figshare
- Genetic aspects of amyotrophic lateral sclerosisKerim K. Nagiev, Albina Y. Sysoeva, Elza M. Karimullina, Liaisan A. Akhmadieva, Ilnur Ildusovich Salafutdinov, Marat A. Mukhamedyarov · 2025 · Neurology Bulletin
- Promotion of asthenozoospermia by C9orf72 through suppression of spermatogonia activity via fructose metabolism and mitophagyHui Lu, Dongchuan Xu, Liqiang Zhao, Hailing Ruan, Anguo Wang, Yejuan Li, Weiying Lu · 2025 · Open Medicine
- Effect of G 4 C 2 repeat expansions on the motion of lysosomes inside neuritesMaria Mytiliniou, Joeri A. J. Wondergem, Marleen Feliksik, Thomas Schmidt, Thomas Fuhs, Doris Heinrich · 2026 · Physical Biology
- Étude de la composante neuroinflammatoire dans les DFT/SLAJulie Smeyers · 2020 · theses.fr (ABES)
- Mechanisms of C9ORF72 pathogenicity and related autophagy impairment in amyotrophic lateral sclerosisHortense de Calbiac · 2019 · theses.fr (ABES)
- Structural and functional characterization of the lysosomal amino acid transporter PQLC2Layal Jamal · 2024 · theses.fr (ABES)
- Phosphoregulated SMCR8-FIP200 interaction connects the ALS/FTD-linked C9orf72 complex to autophagy initiation and mitochondrial quality controlJian Wang, Colin T. Davis, Simone Kunzelmann, Sarah Maslen, Gavin Kelly, Mark J. Skehel, Anne Schreiber · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Fibroblasts carrying intermediate C9orf72 hexanucleotide repeat expansions from iNPH patients show changes in energy metabolism but no cell pathologiesDorit B. Hoffmann, Ville E. Korhonen, Hannah Rostalski, Nadine Huber, Sami Heikkinen, Tomi Hietanen, Rebekka Wittrahm, Stina Leskelä, Päivi H. Hartikainen, Tuomas H. Rauramaa et al. · 2026 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
- Chromosome 9 Open Reading Frame 72 as a Multifunctional Regulator of Cellular HomeostasisSiew Chin Chan, Shang‐Hsun Yang, Po‐Ming Wu, Shih-Feng Chen, Pei‐Hsun Cheng, Chih-Wei Tung · 2026 · Journal of physiological investigation.
- TLR7-mediated autoimmunity targets Robo3 to drive astrogliosis in frontotemporal dementiaEric Jinsheng Huang, Rufei Lu, Jennifer Choi, Naznin Jahan, Isabella Imhof, Samuel Collo, Sofı́a Bustamante Eguiguren, Jiasheng Zhang, Gavin M. Sowa, Colin R. Zamecnik et al. · 2026 · Research Square
- BindingDB Entry 50001184: UNC-51-like Kinase 1: From an Autophagic Initiator to Multifunctional Drug Target.BindingDB · 2020 · UC San Diego
- Exercise-induced lactylation in WDR41 initiates autophagy and improves fatty liver diseasesQinqin Ouyang, Pingdong Liang, Hao Zhang, Qing Zhang, Haiping Liao, Chao Nie, Kenta Kuramoto, Chengying Zhang, Dong Ji, Fazheng Ren et al. · 2026 · Autophagy