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Research Paper

C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis

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Pages 1635-1650 | Received 06 Oct 2018, Accepted 04 Dec 2019, Published online: 26 Dec 2019

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Lan Jiang, Tizhong Zhang, Kefeng Lu & Shiqian Qi. (2022) The progress in C9orf72 research: ALS/FTD pathogenesis, functions and structure. Small GTPases 13:1, pages 56-76.
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Articles from other publishers (27)

Tiffany W. Todd, Wei Shao, Yong-jie Zhang & Leonard Petrucelli. (2023) The endolysosomal pathway and ALS/FTD. Trends in Neurosciences 46:12, pages 1025-1041.
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Wenlong Xue, Jie Zhang & Yang Li. (2023) Enhancement of lysosome biogenesis as a potential therapeutic approach for neurodegenerative diseases. Neural Regeneration Research 18:11, pages 2370-2376.
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Kun Yang, Zhen Tang, Cong Xing & Nan Yan. (2023) STING signaling in the brain: Molecular threats, signaling activities, and therapeutic challenges. Neuron.
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Shen Zhang, Mindan Tong, Denghao Zheng, Huiying Huang, Linsen Li, Christian Ungermann, Yi Pan, Hanyan Luo, Ming Lei, Zaiming Tang, Wan Fu, She Chen, Xiaoxia Liu & Qing Zhong. (2023) C9orf72-catalyzed GTP loading of Rab39A enables HOPS-mediated membrane tethering and fusion in mammalian autophagy. Nature Communications 14:1.
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Jun Yin, Wenjuan He, Mengjie Zhang, Wei He, Gang Zhang & Bing Ni. (2023) https://elsevier.proofcentral.com/en-us/landing-page.html?token=baf280639f2773e07701834b1c13daInhibition of spermatogenesis by hypoxia is mediated by V-ATPase via the JNK/c-Jun pathway in mice. Reproductive Biology 23:2, pages 100761.
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Weilun Pang & Fenghua Hu. (2023) C9ORF72 suppresses JAK-STAT mediated inflammation. iScience 26:5, pages 106579.
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Maria-Belen Lopez-Herdoiza, Stephanie Bauché, Baptiste Wilmet, Caroline Le Duigou, Delphine Roussel, Magali Frah, Jonas Béal, Gabin Devely, Susana Boluda, Petra Frick, Delphine Bouteiller, Sébastien Dussaud, Pierre Guillabert, Carine Dalle, Magali Dumont, Agnes Camuzat, Dario Saracino, Mathieu Barbier, Gaelle Bruneteau, Phillippe Ravassard, Manuela Neumann, Sophie Nicole, Isabelle Le Ber, Alexis Brice & Morwena Latouche. (2023) C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice. Frontiers in Cellular Neuroscience 17.
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Rim Diab, Federica Pilotto & Smita Saxena. (2023) Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology. Frontiers in Cellular Neuroscience 17.
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Boram Kim, Ashley Viera-Ortiz, Jessica M. Phan, David J. Irwin & Edward B. Lee. 2023. Neurobiology of Brain Disorders. Neurobiology of Brain Disorders 337 360 .
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Sonia Bellini, Claudia Saraceno, Luisa Benussi, Andrea Geviti, Antonio Longobardi, Roland Nicsanu, Sara Cimini, Martina Ricci, Laura Canafoglia, Cinzia Coppola, Gianfranco Puoti, Giuliano Binetti, Giacomina Rossi & Roberta Ghidoni. (2022) Plasma Small Extracellular Vesicle Cathepsin D Dysregulation in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration. International Journal of Molecular Sciences 23:18, pages 10693.
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O. H. Houghton, S. Mizielinska & P. Gomez-Suaga. (2022) The Interplay Between Autophagy and RNA Homeostasis: Implications for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Frontiers in Cell and Developmental Biology 10.
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Fei‐Yang Tzou, Jung‐Kun Wen, Jui‐Yu Yeh, Shu‐Yi Huang, Guang‐Chao Chen & Chih‐Chiang Chan. (2021) Drosophila as a model to study autophagy in neurodegenerative diseases and digestive tract . IUBMB Life 74:4, pages 339-360.
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Jon Ondaro, Haizea Hernandez-Eguiazu, Maddi Garciandia-Arcelus, Raúl Loera-Valencia, Laura Rodriguez-Gómez, Andrés Jiménez-Zúñiga, Julen Goikolea, Patricia Rodriguez-Rodriguez, Javier Ruiz-Martinez, Fermín Moreno, Adolfo Lopez de Munain, Ian James Holt, Francisco Javier Gil-Bea & Gorka Gereñu. (2022) Defects of Nutrient Signaling and Autophagy in Neurodegeneration. Frontiers in Cell and Developmental Biology 10.
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Sonia Bellini, Claudia Saraceno, Luisa Benussi, Rosanna Squitti, Sara Cimini, Martina Ricci, Laura Canafoglia, Cinzia Coppola, Gianfranco Puoti, Clarissa Ferrari, Antonio Longobardi, Roland Nicsanu, Marta Lombardi, Giulia D’Arrigo, Claudia Verderio, Giuliano Binetti, Giacomina Rossi & Roberta Ghidoni. (2022) Plasma Small Extracellular Vesicles with Complement Alterations in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration. Cells 11:3, pages 488.
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Merel O. Mol, Suzanne S. M. Miedema, John C. van Swieten, Jeroen G. J. van Rooij & Elise G. P. Dopper. (2021) Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?. International Journal of Molecular Sciences 22:19, pages 10298.
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Jessica Root, Paola Merino, Austin Nuckols, Michelle Johnson & Thomas Kukar. (2021) Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis. Neurobiology of Disease 154, pages 105360.
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Isabella Zanella, Eliana Zacchi, Simone Piva, Massimiliano Filosto, Giada Beligni, Diana Alaverdian, Sara Amitrano, Francesca Fava, Margherita Baldassarri, Elisa Frullanti, Ilaria Meloni, Alessandra Renieri, Francesco Castelli & Eugenia Quiros-Roldan. (2021) C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age. International Journal of Molecular Sciences 22:13, pages 6991.
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Maria Elena Cicardi, Lara Marrone, Mimoun Azzouz & Davide Trotti. (2021) Proteostatic imbalance and protein spreading in amyotrophic lateral sclerosis. The EMBO Journal 40:10.
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Julie Smeyers, Elena-Gaia Banchi & Morwena Latouche. (2021) C9ORF72: What It Is, What It Does, and Why It Matters. Frontiers in Cellular Neuroscience 15.
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Weilun Pang & Fenghua Hu. (2020) Cellular and physiological functions of C9ORF72 and implications for ALS/FTD. Journal of Neurochemistry 157:3, pages 334-350.
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Salome Azoulay-Ginsburg, Michela Di Salvio, Michal Weitman, Michal Afri, Sara Ribeiro, Simon Ebbinghaus, Gianluca Cestra & Arie Gruzman. (2021) Chemical chaperones targeted to the endoplasmic reticulum (ER) and lysosome prevented neurodegeneration in a C9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (ALS) model. Pharmacological Reports 73:2, pages 536-550.
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Xiao-Le Wang, Si-Tong Feng, Zhen-Zhen Wang, Nai-Hong Chen & Yi Zhang. (2021) Role of mitophagy in mitochondrial quality control: Mechanisms and potential implications for neurodegenerative diseases. Pharmacological Research 165, pages 105433.
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Mehdi Ghasemi, Kiandokht Keyhanian & Catherine Douthwright. (2021) Glial Cell Dysfunction in C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Cells 10:2, pages 249.
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John L. Goodier, Alisha O. Soares, Gavin C. Pereira, Lauren R. DeVine, Laura Sanchez, Robert N. Cole & Jose Luis García-Pérez. (2020) C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease. Acta Neuropathologica Communications 8:1.
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Elke Braems, Bart Swinnen & Ludo Van Den Bosch. (2020) C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?. Acta Neuropathologica 140:5, pages 625-643.
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Chetan Singh Rajpurohit, Vivek Kumar, Arquimedes Cheffer, Danyllo Oliveira, Henning Ulrich, Oswaldo Keith Okamoto, Mayana Zatz, Uzair Ahmad Ansari, Vinay Kumar Khanna & Aditya Bhushan Pant. (2020) Mechanistic Insights of Astrocyte-Mediated Hyperactive Autophagy and Loss of Motor Neuron Function in SOD1L39R Linked Amyotrophic Lateral Sclerosis. Molecular Neurobiology 57:10, pages 4117-4133.
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