ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS
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C. Shaw | Xiang-Dong Fu | G. Hicks | Zhengyu Ouyang | J. Qiu | L. Tessarollo | D. Cleveland | Shuo-Chien Ling | C. Lagier-Tourenne | M. Marsala | Ying Sun | Michael W. Baughn | S. Da Cruz | J. Boubaker | Carlos Chillón-Marinas | P. Parone | T. Tadokoro | Melissa McAlonis-Downes | Anh T. Bui | Anne P. Vetto | Joshua N. Asiaban | J. López-Erauskin | Debbie Swing | Brian Myers | Sandra K. Lee | M. Jambeau | Jonathan W. Artates | Ai Vy Le | Jone López-Erauskin | C. Shaw
[1] E. Curry. RNA-seq , 2020, Introduction to Bioinformatics with R.
[2] C. Shaw,et al. Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice , 2017, Human molecular genetics.
[3] S. Ackerman,et al. Regulation of mRNA Translation in Neurons—A Matter of Life and Death , 2017, Neuron.
[4] W. Robberecht,et al. HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients , 2017, Nature Communications.
[5] B. Burke,et al. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice , 2017, Brain : a journal of neurology.
[6] P. Walter,et al. Inhibition of the integrated stress response reverses cognitive deficits after traumatic brain injury , 2017, Proceedings of the National Academy of Sciences.
[7] W. Rossoll,et al. Spatially and temporally regulating translation via mRNA‐binding proteins in cellular and neuronal function , 2017, FEBS letters.
[8] J. Taylor,et al. Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31 , 2017, Neuron.
[9] S. Mili,et al. FUS inclusions disrupt RNA localization by sequestering kinesin-1 and inhibiting microtubule detyrosination , 2017, The Journal of cell biology.
[10] Ying Sun,et al. Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis , 2017, Acta Neuropathologica.
[11] Mila Ljujic,et al. The integrated stress response , 2016, EMBO reports.
[12] Norihiro Suzuki,et al. Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice. , 2016, Brain : a journal of neurology.
[13] Jatinder Gulani,et al. Establishment of Early Endpoints in Mouse Total-Body Irradiation Model , 2016, PloS one.
[14] Krishna B S Swamy,et al. Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP , 2016, Acta Neuropathologica.
[15] Anders M. Dale,et al. A human neurodevelopmental model for Williams syndrome , 2016, Nature.
[16] Gene W. Yeo,et al. Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses , 2016, Nature Communications.
[17] O. Mühlemann,et al. Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants , 2016, The EMBO journal.
[18] D. Muller,et al. Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons , 2016, Proceedings of the National Academy of Sciences.
[19] M. Rosemann,et al. DNA repair kinetics in SCID mice Sertoli cells and DNA-PKcs-deficient mouse embryonic fibroblasts , 2016, Chromosoma.
[20] A. Whitworth,et al. Axonal transport defects are a common phenotype in Drosophila models of ALS , 2016, Human molecular genetics.
[21] O. King,et al. Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease. , 2016, Brain research.
[22] H. Okano,et al. Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells , 2016, Stem cell reports.
[23] Xiang-Dong Fu,et al. Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss , 2016, The EMBO journal.
[24] J. Tapia,et al. ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function , 2016, Nature Communications.
[25] J. Michaelis,et al. Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal Neurons , 2016, Front. Cell. Neurosci..
[26] Christos G. Gkogkas,et al. Translational control of nociception via 4E-binding protein 1 , 2015, eLife.
[27] Claire H. Michel,et al. ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function , 2015, Neuron.
[28] A. Aulas,et al. Alterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS? , 2015, Front. Cell. Neurosci..
[29] C. Shaw,et al. ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation , 2015, Acta Neuropathologica Communications.
[30] G. Sobue,et al. FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization , 2015, Nature Communications.
[31] Lance T. Pflieger,et al. Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model , 2015, PLoS genetics.
[32] Gene W. Yeo,et al. RNA-binding proteins in neurodegeneration: Seq and you shall receive , 2015, Trends in Neurosciences.
[33] E. Schuman,et al. Direct visualization of newly synthesized target proteins in situ , 2015, Nature Methods.
[34] C. Ki,et al. De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis , 2015, Neurobiology of Aging.
[35] L. Goldstein,et al. Axonal amyloid precursor protein and its fragments undergo somatodendritic endocytosis and processing , 2015, Molecular biology of the cell.
[36] Gene W. Yeo,et al. ALS-causative mutations in FUS/TLS confer gain- and loss-of-function by altered association with SMN and U1-snRNP , 2015, Nature Communications.
[37] A. Roberts,et al. Aspen shaving versus chip bedding: effects on breeding and behavior , 2015, Laboratory animals.
[38] Michael Q. Zhang,et al. Activity-dependent FUS dysregulation disrupts synaptic homeostasis , 2014, Proceedings of the National Academy of Sciences.
[39] Li-Huei Tsai,et al. ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects. , 2014, The Journal of clinical investigation.
[40] J. Trojanowski,et al. Therapeutic modulation of eIF2α-phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models , 2013, Nature Genetics.
[41] M. Dalva,et al. Defects in Synapse Structure and Function Precede Motor Neuron Degeneration in Drosophila Models of FUS-Related ALS , 2013, The Journal of Neuroscience.
[42] T. Haystead,et al. The RNA-binding protein Fus directs translation of localized mRNAs in APC-RNP granules , 2013, The Journal of cell biology.
[43] P. Rossini,et al. Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis. , 2013, Human molecular genetics.
[44] G. Sobue,et al. The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons , 2013, FEBS open bio.
[45] V. Buchman,et al. Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice , 2013, The Journal of Biological Chemistry.
[46] K. Nader,et al. Pharmacological brake-release of mRNA translation enhances cognitive memory , 2013, eLife.
[47] D. Cleveland,et al. Enhancing Mitochondrial Calcium Buffering Capacity Reduces Aggregation of Misfolded SOD1 and Motor Neuron Cell Death without Extending Survival in Mouse Models of Inherited Amyotrophic Lateral Sclerosis , 2013, The Journal of Neuroscience.
[48] Gene W. Yeo,et al. ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43 , 2013, Proceedings of the National Academy of Sciences.
[49] Sanjeev Gupta,et al. The eIF2α kinases: their structures and functions , 2013, Cellular and Molecular Life Sciences.
[50] David G Hendrickson,et al. Differential analysis of gene regulation at transcript resolution with RNA-seq , 2012, Nature Biotechnology.
[51] E. Kremmer,et al. Arginine methylation next to the PY‐NLS modulates Transportin binding and nuclear import of FUS , 2012, The EMBO journal.
[52] D. Dickson,et al. Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis , 2012, Molecular Neurodegeneration.
[53] Stephanie C Huelga,et al. Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs , 2012, Nature Neuroscience.
[54] T. Hortobágyi,et al. Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion , 2012, Acta Neuropathologica.
[55] Ryan M. Plocinik,et al. The Akt-SRPK-SR axis constitutes a major pathway in transducing EGF signaling to regulate alternative splicing in the nucleus. , 2012, Molecular cell.
[56] C. Heyser,et al. Novel object exploration in mice: Not all objects are created equal , 2012, Behavioural Processes.
[57] D. Cleveland,et al. Understanding the role of TDP-43 and FUS/TLS in ALS and beyond , 2011, Current Opinion in Neurobiology.
[58] A. Eisen,et al. Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation , 2011, Acta Neuropathologica.
[59] Philippe Pierre,et al. Novel insights into the regulation of skeletal muscle protein synthesis as revealed by a new nonradioactive in vivo technique , 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[60] A. Chiò,et al. A de novo missense mutation of the FUS gene in a “true” sporadic ALS case , 2011, Neurobiology of Aging.
[61] Yong-jian Liu,et al. FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration , 2011, PLoS genetics.
[62] V. Meininger,et al. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis , 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
[63] W. Engel,et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia , 2010, Neurology.
[64] A. Eisen,et al. Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis , 2010, Muscle & nerve.
[65] C. Lord,et al. Behavioural phenotyping assays for mouse models of autism , 2010, Nature Reviews Neuroscience.
[66] Z. Wszolek,et al. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis , 2010, Human mutation.
[67] Cole Trapnell,et al. Role of Rodent Secondary Motor Cortex in Value-based Action Selection Nih Public Access Author Manuscript , 2006 .
[68] D. Cleveland,et al. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. , 2010, Human molecular genetics.
[69] K. Sleegers,et al. Genetic contribution of FUS to frontotemporal lobar degeneration , 2010, Neurology.
[70] John Q. Trojanowski,et al. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update , 2009, Acta Neuropathologica.
[71] H. Kretzschmar,et al. A new subtype of frontotemporal lobar degeneration with FUS pathology. , 2009, Brain : a journal of neurology.
[72] D. Munoz,et al. FUS pathology in basophilic inclusion body disease , 2009, Acta Neuropathologica.
[73] Lior Pachter,et al. Sequence Analysis , 2020, Definitions.
[74] Xun Hu,et al. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.
[75] J L Haines,et al. Supporting Online Material Materials and Methods Figs. S1 to S7 Tables S1 to S4 References Mutations in the Fus/tls Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis , 2022 .
[76] Justin W. Kenney,et al. Modulation of Hippocampus-Dependent Learning and Synaptic Plasticity by Nicotine , 2008, Molecular Neurobiology.
[77] A. Ståhlberg,et al. The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response , 2008, BMC Cell Biology.
[78] Y. Kuroiwa,et al. RNA-binding Protein TLS Is a Major Nuclear Aggregate-interacting Protein in Huntingtin Exon 1 with Expanded Polyglutamine-expressing Cells* , 2008, Journal of Biological Chemistry.
[79] Jacqueline N. Crawley,et al. Mouse behavioral tasks relevant to autism: Phenotypes of 10 inbred strains , 2007, Behavioural Brain Research.
[80] S. Ackerman,et al. Endoplasmic reticulum stress in health and disease. , 2006, Current opinion in cell biology.
[81] R. Nitsch,et al. Impaired spatial reference memory and increased exploratory behavior in P301L tau transgenic mice , 2006, Genes, brain, and behavior.
[82] A. Blokland,et al. 5,7-DHT lesion of the dorsal raphe nuclei impairs object recognition but not affective behavior and corticosterone response to stressor in the rat , 2006, Behavioural Brain Research.
[83] C. Cotman,et al. A microfluidic culture platform for CNS axonal injury, regeneration and transport , 2005, Nature Methods.
[84] F. Moreau-Gachelin,et al. Delocalization of the multifunctional RNA splicing factor TLS/FUS in hippocampal neurones: exclusion from the nucleus and accumulation in dendritic granules and spine heads , 2005, Neuroscience Letters.
[85] G. Hicks,et al. The RNA Binding Protein TLS Is Translocated to Dendritic Spines by mGluR5 Activation and Regulates Spine Morphology , 2005, Current Biology.
[86] J. W. Rudy,et al. Understanding contextual fear conditioning: insights from a two-process model , 2004, Neuroscience & Biobehavioral Reviews.
[87] Mark R. Segal,et al. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death , 2004, Nature.
[88] J. Piven,et al. Sociability and preference for social novelty in five inbred strains: an approach to assess autistic‐like behavior in mice , 2004, Genes, brain, and behavior.
[89] Rosemary A. Cowell,et al. Double Dissociation between the Effects of Peri-Postrhinal Cortex and Hippocampal Lesions on Tests of Object Recognition and Spatial Memory: Heterogeneity of Function within the Temporal Lobe , 2004, The Journal of Neuroscience.
[90] M. Kirkitadze,et al. Paradigm shifts in Alzheimer's disease and other neurodegenerative disorders: The emerging role of oligomeric assemblies , 2002, Journal of neuroscience research.
[91] Robert Lalonde,et al. The neurobiological basis of spontaneous alternation , 2002, Neuroscience & Biobehavioral Reviews.
[92] H. Ruley,et al. Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death , 2000, Nature Genetics.
[93] D. D. de Rooij,et al. Male sterility and enhanced radiation sensitivity in TLS−/− mice , 2000, The EMBO journal.
[94] K. Duff,et al. Behavioral Changes in Transgenic Mice Expressing Both Amyloid Precursor Protein and Presenilin-1 Mutations: Lack of Association with Amyloid Deposits , 1999, Behavior genetics.
[95] A. Ennaceur,et al. A new one-trial test for neurobiological studies of memory in rats. III. Spatial vs. non-spatial working memory , 1992, Behavioural Brain Research.
[96] J. Delacour,et al. A new one-trial test for neurobiological studies of memory in rats. 1: Behavioral data , 1988, Behavioural Brain Research.
[97] B. Dubois,et al. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis. , 2010, Journal of Alzheimer's disease : JAD.
[98] D. Mumby,et al. Hippocampal damage and anterograde object‐recognition in rats after long retention intervals , 2005, Hippocampus.
[99] Stephen Maren. Neurobiology of Pavlovian fear conditioning. , 2001, Annual review of neuroscience.