ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

[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.