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
Cited by (232)
Items 101–200 of 232
- Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathologyRim Diab, Federica Pilotto, Smita Saxena · 2023 · Frontiers in Cellular Neuroscience
- Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of AutophagyRebecca Casterton, Rachel J. Hunt, Manolis Fanto · 2020 · Journal of Molecular Biology
- Structural basis for the ARF GAP activity and specificity of the C9orf72 complexMing-Yuan Su, Simon A. Fromm, Jonathan P. Remis, Daniel B. Toso, James H. Hurley · 2021 · Nature Communications
- Activating autophagy to eliminate toxic protein aggregates with small molecules in neurodegenerative diseasesYuqi Fu, Jin Zhang, Rui Qin, Yueting Ren, Tingting Zhou, Bo Han, Bo Liu · 2025 · Pharmacological Reviews
- Therapeutic Targeting of Rab GTPases: Relevance for Alzheimer’s DiseaseKate L. Jordan, David J. Koss, Tiago F. Outeiro, Flaviano Giorgini · 2022 · Biomedicines
- Rabs, Membrane Dynamics, and Parkinson's DiseaseBor Luen Tang · 2016 · Journal of Cellular Physiology
- Cell death cascade and molecular therapy in ADAR2-deficient motor neurons of ALSTakenari Yamashita, Shin Kwak · 2018 · Neuroscience Research
- C9orf72 Proteins Regulate Autophagy and Undergo Autophagosomal or Proteasomal Degradation in a Cell Type-Dependent MannerStina Leskelä, Nadine Huber, Hannah Rostalski, Teemu Natunen, Anne Marja Remes, Mari Takalo, Mikko O. Hiltunen, Annakaisa Haapasalo · 2019 · Cells
- Modelling frontotemporal dementia using patient-derived induced pluripotent stem cellsGeorgie Lines, Jackie M. Casey, Elisavet Preza, Selina Wray · 2020 · Molecular and Cellular Neuroscience
- C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of PtenMatthew J. Stopford, Adrian Higginbottom, Guillaume M. Hautbergue, Johnathan Cooper‐Knock, Pádraig J. Mulcahy, Kurt J. De Vos, Alan Edward Renton, Hannah A. Pliner, Andrea Calvo, Adriano Chiò et al. · 2017 · Human Molecular Genetics
- DENN domain-containing protein FAM45A regulates the homeostasis of late/multivesicular endosomes.Jianjian Zhang, Kangning Zhang, Li-Juan Qi, Qiuming Hu, Zhen Shen, Bowen Liu, Jiaxin Deng, Chang-Song Zhang, Yan-Ling Zhang · 2019 · Biochimica et biophysica acta. Molecular cell research
- Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72Chai, Noori, Haney, Michael S., Couthouis, Julien, Morgens, David W., Benjamin, Alyssa, Wu, Kathryn, Ousey, James, Fang, Shirleen, Finer, Sarah, Bassik, Michael C. et al. · 2020 · Brain Research
- Studying ALS: Current Approaches, Effect on Potential Treatment StrategyElizaveta Ustyantseva, Sergey P. Medvedev, Suren M. Zakian · 2020 · Advances in experimental medicine and biology
- Aberrant Stress Granule Dynamics and Aggrephagy in ALS PathogenesisYi Zhang, Jiayu Gu, Qiming Sun · 2021 · Cells
- Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granulesPhilip McGoldrick, Agnes Lau, Zhipeng You, Thomas M. Durcan, Janice Robertson · 2023 · Cell Reports
- Intercellular transmission of pathogenic proteins in ALS: Exploring the pathogenic waveFrederick J. Arnold, Ashlie Nguyen, Richard Bedlack, Craig L. Bennett, Albert R. La Spada · 2023 · Neurobiology of Disease
- Mechanisms of repeat-associated non-AUG translation in neurological microsatellite expansion disordersLydia M. Castelli, Wan-Ping Huang, Ya-Hui Lin, Kung‐Yao Chang, Guillaume M. Hautbergue · 2021 · Biochemical Society Transactions
- TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: From pathomechanisms to therapeutic strategiesPei‐Chuan Ho, Tsung‐Chi Hsieh, Kuen‐Jer Tsai · 2024 · Ageing Research Reviews
- RAB39B's role in membrane traffic, autophagy, and associated neuropathologyBor Luen Tang · 2020 · Journal of Cellular Physiology
- Could sirtuin activities modify ALS onset and progression?Tang, Bor Luen · 2017 · Cellular and Molecular Neurobiology
- Mechanistic Insights of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis: An Update on a Lasting RelationshipNiccolò Candelise, Illari Salvatori, Silvia Scaricamazza, Valentina Nesci, Henri Zenuni, Alberto Ferri, Cristiana Valle · 2022 · Metabolites
- The RNA exosome complex degrades expanded hexanucleotide repeat RNA in C9orf72 FTLD/ALSYuya Kawabe, Kohji Mori, Tomoko Yamashita, Shiho Gotoh, Manabu Ikeda · 2020 · The EMBO Journal
- Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesisWan Yun Ho, Sheeja Navakkode, Fujia Liu, Tuck Wah Soong, Shuo‐Chien Ling · 2020 · Acta Neuropathologica Communications
- Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defectsHortense de Calbiac, Solène Renault, Grégoire Haouy, Vincent A. Jung, Kévin Roger, Qihui Zhou, Maria‐Letizia Campanari, Loïc Chentout, Doris Lou Demy, Anca Marian et al. · 2024 · Autophagy
- Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagyCatherine Hong Huan Hor, Bor Luen Tang · 2018 · Reviews in the Neurosciences
- C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosisJesse D. Lai, Justin K. Ichida · 2019 · Neuroscience Letters
- DNA-initiated Epigenetic Cascades Driven by C9orf72 Hexanucleotide RepeatYang Liu, Zhi-Yuan Huang, Honghe Liu, Zhi-Cheng Ji, A. Arora, Danfeng Cai, Hongjin Wang, Meilin Liu, Eric A J Simko, Yanjun Zhang et al. · 2023 · Neuron
- Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicityAlexandra M. Nicholson, Xiaolai Zhou, Ralph B. Perkerson, Tammee M. Parsons, Jeannie Chew, Mieu Brooks, Mariely DeJesus‐Hernandez, NiCole A. Finch, Billie J. Matchett, Aishe Kurti et al. · 2018 · Acta Neuropathologica Communications
- C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?Chantal Sellier, Philippe Corcia, Patrick Vourc’h, Luc Dupuis · 2024 · Revue Neurologique
- C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPasesYon Ju Ji, Janet Ugolino, Tao Zhang, Jiayin Lu, Dohoon Kim, Jiou Wang · 2020 · PLoS Genetics
- Rab GTPases in Parkinson's disease: a primerAntonio Jesús Lara Ordóñez, Rachel Fasiczka, Yahaira Naaldijk, Sabine Hilfiker · 2021 · Essays in Biochemistry
- The molecular pathogenesis of repeat expansion diseasesYuzo Fujino, Yoshitaka Nagai · 2021 · Biochemical Society Transactions
- Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse modelsLiang Chen, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen, Jian‐Fu Chen · 2019 · Human Molecular Genetics
- Role of C9orf72 hexanucleotide repeat expansions in ALS/FTD pathogenesisYanyan Geng, Qixu Cai · 2024 · Frontiers in Molecular Neuroscience
- C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological diseaseJohn L. Goodier, Alisha O. Soares, Gavin Pereira, Lauren R. Devine, Laura Sánchez, Robert Norman Cole, Jose Luis Garcia-Perez · 2020 · Acta Neuropathologica Communications
- Development of a specific live-cell assay for native autophagic fluxNathaniel Safren, Elizabeth M.H. Tank, Ahmed Mujtaba Malik, Jason P. Chua, Nicholas Santoro, Sami J. Barmada · 2021 · Journal of Biological Chemistry
- High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotypeOrly Goldstein, Mali Gana‐Weisz, Beatrice Nefussy, Batel Vainer, Omri Nayshool, Anat Bar‐Shira, Bryan J. Traynor, Vivian E. Drory, Avi Orr‐Urtreger · 2017 · Neurobiology of Aging
- C9orf72 regulates the unfolded protein response and stress granule formation by interacting with eIF2αWenzhong Zheng, Kexin Wang, Yachen Wu, Ge Yan, Chi Zhang, Zhi-Qiang Li, Lian-Rong Wang, Shi Chen · 2022 · Theranostics
- The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)Jimmy Beckers, Philip Van Damme · 2025 · Autophagy Reports
- Non-muscle MYH10/myosin IIB recruits ESCRT-III to participate in autophagosome closure to maintain neuronal homeostasisYong‐Woo Jun, Soojin Lee, Byung-Kwan Ban, Jin‐A Lee, Fen‐Biao Gao · 2023 · Autophagy
- Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat ExpansionAgnes Lumi Nishimura, Natalia Arias · 2021 · Frontiers in Cellular Neuroscience
- FTLD Patient–Derived Fibroblasts Show Defective Mitochondrial Function and Accumulation of p62Stina Leskelä, Dorit B. Hoffmann, Hannah Rostalski, Nadine Huber, Rebekka Wittrahm, Päivi H. Hartikainen, Ville E. Korhonen, Ville Leinonen, Mikko O. Hiltunen, Eino Solje et al. · 2021 · Molecular Neurobiology
- Chemical chaperones targeted to the endoplasmic reticulum (ER) and lysosome prevented neurodegeneration in a C9orf72 repeat expansion drosophila amyotrophic lateral sclerosis (ALS) modelSalome Azoulay‐Ginsburg, Michela Di Salvio, Michal Weitman, Michal Afri, Sara S. Ribeiro, Simon Ebbinghaus, Gianluca Cestra, Arie Gruzman · 2021 · Pharmacological Reports
- Small molecule inhibition of PIKFYVE kinase rescues gain- and loss-of-function
<i>C9ORF72</i>
ALS/FTD disease processes
<i>in vivo</i>Staats, K. A., Seah, C., Sahimi, A., Wang, Y., Koutsodendris, N., Lin, S., Kim, D., Chang, W-H., Gray, K. A., Shi, Y. et al. · 2019
- Modelling C9orf72-Related Amyotrophic Lateral Sclerosis in ZebrafishGabrielle Fortier, Zoé Butti, Shunmoogum A. Patten · 2020 · Biomedicines
- Reduced C9orf72 expression exacerbates polyGR toxicity in patient iPSC-derived motor neurons and a Type I protein arginine methyltransferase inhibitor reduces that toxicityTherese L. Dane, Anna L. Gill, Fernando G. Vieira, Kyle R. Denton · 2023 · Frontiers in Cellular Neuroscience
- Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-AnalysisAleksandra Kaliszewska, Joseph Allison, Tarik-Tarkan Col, Christopher E. Shaw, Natalia Arias · 2021 · The Cerebellum
- Illuminating intercellular autophagy: A comprehensive review of cell non-autonomous autophagyKaran Selarka, Bhupendra V. Shravage · 2024 · Biochemical and Biophysical Research Communications
- Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse modelsLiang Chen, Qiang Shao, Wei Zhang, Mei Yang, Qing Chang, Rong Chen, Jian‐Fu Chen · 2020 · Human Molecular Genetics
- Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturationClaudia S. Bauer, Christopher P Webster, Allan Christian Shaw, Jannigje Rachel Kok, Lydia M. Castelli, Ya-Hui Lin, Emma F. Smith, Francisco Illanes-Álvarez, Adrian Higginbottom, Pamela J. Shaw et al. · 2022 · Frontiers in Cellular Neuroscience
- Unwinding the role of Wnt signaling cascade and molecular triggers of motor neuron degeneration in amyotrophic lateral sclerosis (ALS)B. S. Soumya, V.P. Shreenidhi, Apoorvaa Agarwal, Rajesh Kumar Gandhirajan, Arun Dharmarajan, Sudha R. Warrier · 2023 · Cellular Signalling
- Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architectureJulia Nörpel, Simone Cavadini, Andreas D. Schenk, Alexandra Graff-Meyer, Daniel Heß, Jan Seebacher, Jeffrey Alan Chao, Varun Bhaskar · 2021 · PLoS Biology
- Dysfunction of RNA/RNA-Binding Proteins in ALS Astrocytes and MicrogliaSimona Rossi, Mauro Cozzolino · 2021 · Cells
- Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-SynucleinChing‐Chi Chiu, Yi-Hsin Weng, Tu‐Hsueh Yeh, Juu‐Chin Lu, Wan-Shia Chen, Allen Han-Ren Li, Ying-Ling Chen, Kuo‐Chen Wei, Hung‐Li Wang · 2023 · Molecular Neurobiology
- Hereditary Motor Neuropathies and Amyotrophic Lateral Sclerosis: a Molecular and Clinical UpdateRocío García-Santibáñez, Matthew J. Burford, Robert C. Bucelli · 2018 · Current Neurology and Neuroscience Reports
- The Interplay Between Autophagy and RNA Homeostasis: Implications for Amyotrophic Lateral Sclerosis and Frontotemporal DementiaO. H. Houghton, Sarah Mizielinska, Patricia Gómez‐Suaga · 2022 · Frontiers in Cell and Developmental Biology
- C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTDJessica Sultana, Audrey Ragagnin, Sonam Parakh, Sayanthooran Saravanabavan, Kai Ying Soo, Marta Vidal, Cyril Jones Jagaraj, Kunjie Ding, Sharlynn Wu, Sina Shadfar et al. · 2024 · Molecular Neurobiology
- The progress inC9orf72research: ALS/FTD pathogenesis, functions and structureLan Jiang, Tizhong Zhang, Kefeng Lu, Shiqian Qi · 2021 · Small GTPases
- Neuroimmune dysfunction in frontotemporal dementia: Insights from progranulin and C9orf72 deficiencyKei Hashimoto, Naznin Jahan, Zachary Miller, Eric Jinsheng Huang · 2022 · Current Opinion in Neurobiology
- Mitochondrial Dysfunction in Repeat Expansion DiseasesAlberto Giménez-Bejarano, Eva Alegre-Cortés, Sokhna M. S. Yakhine-Diop, Patricia Gómez‐Suaga, José Manuel Fuentes · 2023 · Antioxidants
- Multifaceted role of SMCR8 as autophagy regulatorJennifer Jung, Christian Behrends · 2017 · Small GTPases
- C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in miceMaria-Belen Lopez-Herdoiza, Stéphanie Bauché, Baptiste Wilmet, Caroline Le Duigou, Delphine Roussel, Magali Frah, Jonas Béal, Gabin Devely, Susana Boluda, Petra Frick et al. · 2023 · Frontiers in Cellular Neuroscience
- C9orf72 protein quality control by UBR5‐mediated heterotypic ubiquitin chainsJulia Jülg, Dieter Edbauer, Christian Behrends · 2023 · EMBO Reports
- Disrupted endoplasmic reticulum-mediated autophagosomal biogenesis in a Drosophila model of C9-ALS-FTDHyun Sung, Thomas E. Lloyd · 2023 · Autophagy
- ALS’ Perfect Storm: C9orf72-Associated Toxic Dipeptide Repeats as Potential Multipotent Disruptors of Protein HomeostasisPaulien H. Smeele, Giuliana Cesare, Thomas Vaccari · 2024 · Cells
- HSBP1 Is a Novel Interactor of FIP200 and ATG13 That Promotes Autophagy Initiation and Picornavirus ReplicationMario Mauthe, Nilima Dinesh Kumar, Pauline Verlhac, Nicole van de Beek, Fulvio Reggiori · 2021 · Frontiers in Cellular and Infection Microbiology
- Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal DementiaZongbing Hao, Rui Wang, Haigang Ren, Guanghui Wang · 2020 · Neuroscience Bulletin
- Exploring dysregulated miRNAs in ALS: implications for disease pathogenesis and early diagnosisDipan Maity, Ravinder Kumar Kaundal · 2024 · Neurological Sciences
- ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesisDan Tang, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li, Yi-Chang Wang, Ying Lu, Jiaming Liu et al. · 2023 · Proceedings of the National Academy of Sciences
- Proteostasis deregulation as a driver of C9ORF72 pathogenesisPaulina Torres, Felipe Cabral‐Miranda, Vicente Gonzalez‐Teuber, Claudio A. Hetz · 2021 · Journal of Neurochemistry
- Drosophila as a model to study autophagy in neurodegenerative diseases and digestive tractFei‐Yang Tzou, Jung‐Kun Wen, Jui‐Yu Yeh, Shu‐Yi Huang, Guang‐Chao Chen, Chih‐Chiang Chan · 2021 · IUBMB Life
- The Cryo-EM Effect: Structural Biology of Neurodegenerative Disease Proteostasis FactorsBenjamin C. Creekmore, Yi‐Wei Chang, Edward B. Lee · 2021 · Journal of Neuropathology & Experimental Neurology
- C9orf72 deficiency impairs the autophagic response to aggregated TDP-25 and exacerbates TDP-25-mediated neurodegeneration in vivoLilian Tsai‐Wei Lin, Marc Shenouda, Philip McGoldrick, Agnes Lau, Janice Robertson · 2025 · Acta Neuropathologica Communications
- Multiple ways to a dead end: diverse mechanisms by which ALS mutant genes induce cell deathYueh-Lin Tsai, James L. Manley · 2021 · Cell Cycle
- The contribution of proteasomal impairment to autophagy activation by C9orf72 poly-GA aggregatesMei Pu, Yusi Tai, Luyang Yuan, Yu Zhang, Huijie Guo, Zongbing Hao, Jing Chen, Xinming Qi, Guanghui Wang, Zhouteng Tao et al. · 2022 · Cellular and Molecular Life Sciences
- ALS-linked C9orf72 dipeptide repeats inhibit starvation-induced autophagy through modulating BCL2–BECN1 interactionShiqiang Xu, Qilian Ma, Junwen Shen, Ningning Li, Shan Sun, Nana Wang, Yang Chen, Chunsheng Dong, Kin Yip Tam, Jochen H.M. Prehn et al. · 2024 · Acta Pharmaceutica Sinica B
- Patient-Derived iPSCs and iNs—Shedding New Light on the Cellular Etiology of Neurodegenerative DiseasesBor Luen Tang · 2018 · Cells
- Expression of C9orf72 hexanucleotide repeat expansion leads to formation of RNA foci and dipeptide repeat proteins but does not influence autophagy or proteasomal function in neuronal cellsStina Leskelä, Nadine Huber, Dorit B. Hoffmann, Hannah Rostalski, Anne Marja Remes, Mari Takalo, Mikko Hiltunen, Annakaisa Haapasalo · 2021 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
- Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 PatientsMaría Isabel Álvarez‐Mora, Glòria Garrabou, Tamara Barcos, Francisco Garcia‐García, Rubén Grillo-Risco, Emma Peruga, Laura Gort, Sergi Borrego‐Écija, Raquel Sánchez‐Valle, Judith Cantó et al. · 2022 · Antioxidants
- Sex Disparity in Cancer: Role of Autophagy and Estrogen ReceptorsRosa Vona, Camilla Cittadini, Elena Ortona, Paola Matarrese · 2025 · Cells
- Distinctive autophagy/mitophagy biomarker profiles in frontotemporal lobar degeneration and Alzheimer’s diseaseKateřina Veverová, Alžběta Katonová, Hana Horáková, Jan Laczó, Francesco Angelucci, Jakub Hort, Sofie Lautrup, Evandro Fei Fang, Martin Vyhnálek · 2025 · Acta Neuropathologica Communications
- Disrupting lipid homeostasis with CAV2 in OSCC triggers apoptosis, lipolysis, and mitochondrial dysfunction by transcriptional repression of PPARγYuting Bai, Mingjing Jiang, Xiaojie Chen, Gang Zhou · 2025 · Cell & Bioscience
- Altered Inflammatory Signature in a C9ORF72 ‐ ALS iPSC ‐Derived Motor Neuron and Microglia Coculture ModelYujing Gao, Jessica L. Brothwood, Harpreet Kaur Saini, Gregory A. O’Sullivan, Carla F. Bento, James M. McCarthy, Nicola G. Wallis, Elena Di Daniel, Brent L. Graham, Daniel M. Tams · 2025 · Glia
- Absence of Rab39b-induced macroautophagy impairment increases neurotoxic α-synuclein and causes degeneration of substantia nigra dopaminergic neurons in mouse model of X-linked Parkinson's diseaseChing‐Chi Chiu, Yi-Hsin Weng, Tu‐Hsueh Yeh, Wan-Shia Chen, Shu-Yu Liu, Tai-Ju Chiu, Allen Hon-Lun Li, Hung‐Li Wang · 2025 · Life Sciences
- Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and ProteostasisM S Shrilaxmi, Saradindu Banerjee, Santosh R. D’Mello, Somasish Ghosh Dastidar · 2025 · Molecular Neurobiology
- Autophagy in motor neuron diseasesNatalia Rodríguez‐Muela · 2020 · Progress in molecular biology and translational science
- The Role of iPSC Modeling Toward Projection of Autophagy Pathway in Disease Pathogenesis: Leader or FollowerMina Kolahdouzmohammadi, Mehdi Totonchi, Sara Pahlavan · 2020 · Stem Cell Reviews and Reports
- Autophagy-Lysosome Dysfunction in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar DegenerationPeter M. Sullivan, Xiaolai Zhou, Fenghua Hu · 2017 · InTech eBooks
- Molecular interactions between C9ORF72 and SMCR8: A local energetic frustration perspectiveVijay Kumar · 2021 · Biochemical and Biophysical Research Communications
- Spinal Cord Phosphoproteome of SCA2 Mouse Model Reveals Alteration of ATXN2-N-Term PRM–SH3–Actin Interactome and of AutophagyLuis Enrique Almaguer-Mederos, Arvind Reddy Kandi, Nesli-Ece Şen, Júlia Canet-Pons, Luca-Malena Berger, Matthew P. Stokes, Kathryn Abell, Jana Key, Suzana Gispert, Georg W. J. Auburger · 2025 · Molecular & Cellular Proteomics
- Loss of C9orf72 function leads to autoimmunityLazaros I. Sakkas, Dimitrios Petrou Bogdanos, Eleni E. Kousvelari · 2017 · Annals of Translational Medicine
- Comprehensive mapping of mutations in the C9ORF72 that affect folding and binding to SMCR8 proteinBin Xue, Ruiting Li, Haining Ma, Abdul Rahaman, Vijay Kumar · 2022 · Process Biochemistry
- Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviorsLi Ma, Liang Chen, Jing Wang, Qing Chang, Yuan Wang, Wei Zhang, Yuanning Du, Jotham Sadan, Jian‐Fu Chen · 2022 · Human Molecular Genetics
- Development of LNA Gapmer Oligonucleotide-Based Therapy for ALS/FTD Caused by the C9orf72 Repeat ExpansionChaitra Sathyaprakash, Raquel Manzano, Miguel A. Varela, Yasumasa Hashimoto, Matthew J. A. Wood, Kevin Talbot, Yoshitsugu Aoki · 2020 · Methods in molecular biology
- Mechanisms of autophagy: the machinery of macroautophagy and points of controlCongcong He · 2021 · Elsevier eBooks
- Zebrafish C9orf72 loss-of-function models of Amyotrophic Lateral Sclerosis and Frontotemporal DementiaNatalie Rounding · 2018 · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)
- Lipid Codes and Lipid‐Binding Proteins as Central Regulators of AutophagyAbhishek Kumar, Debasish Kumar Ghosh · 2026 · BioFactors
- The plant RABC1 GTPase coordinates with exocyst component SEC5A in regulating ER-phagy under endoplasmic reticulum stressShuai Hu, Dongmei Zhu, Xiaohui Ma, Linjuan Shi, Wenze Zhang, Mei Huang, Youshun Lin, Baiying Li, Yonglun Zeng, Liwen Jiang et al. · 2026 · The Plant Cell
- Roles of autophagy in brain homeostasis and diseaseHenry Kim, Edward S. Wickstead, Xiaoting Zhou, Insup Choi, Zhenyu Yue · 2026 · Nature Neuroscience
- C9orf72-ALS mutation drives basal mitophagy impairments in iNeuronsJames A. K. Lee, Chloé Moutin, Sarah M. Granger, Katie Roome, Allan Christian Shaw, Scott P. Allen, Laura Ferraiuolo, Pamela J. Shaw, Heather Mortiboys · 2026 · Frontiers in Cellular Neuroscience