Understanding the role of TDP-43 and FUS/TLS in ALS and beyond

Current Opinion in Neurobiology - Tập 21 - Trang 904-919 - 2011
Sandrine Da Cruz1, Don W Cleveland1
1Ludwig Institute and Department of Cellular and Molecular Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0670, United States

Tài liệu tham khảo

Bruijn, 1997, ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions, Neuron, 18, 327, 10.1016/S0896-6273(00)80272-X Beers, 2006, Wild-type microglia extend survival in PU.1 knockout mice with familial amyotrophic lateral sclerosis, Proc Natl Acad Sci U S A, 103, 16021, 10.1073/pnas.0607423103 Boillee, 2006, Onset and progression in inherited ALS determined by motor neurons and microglia, Science, 312, 1389, 10.1126/science.1123511 Wang, 2010, Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice, Hum Mol Genet, 20, 286, 10.1093/hmg/ddq463 Yamanaka, 2008, Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis, Nat Neurosci, 11, 251, 10.1038/nn2047 Ilieva, 2009, Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond, J Cell Biol, 187, 761, 10.1083/jcb.200908164 Arai, 2006, TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis, Biochem Biophys Res Commun, 351, 602, 10.1016/j.bbrc.2006.10.093 Neumann, 2006, Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis, Science, 314, 130, 10.1126/science.1134108 Kabashi, 2008, TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis, Nat Genet, 40, 572, 10.1038/ng.132 Sreedharan, 2008, TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis, Science, 319, 1668, 10.1126/science.1154584 Gitcho, 2008, TDP-43 A315T mutation in familial motor neuron disease, Ann Neurol, 63, 535, 10.1002/ana.21344 Mackenzie, 2010, TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia, Lancet Neurol, 9, 995, 10.1016/S1474-4422(10)70195-2 Kwiatkowski, 2009, Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis, Science, 323, 1205, 10.1126/science.1166066 Vance, 2009, Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6, Science, 323, 1208, 10.1126/science.1165942 Lagier-Tourenne, 2010, TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration, Hum Mol Genet, 19, R46, 10.1093/hmg/ddq137 Geser, 2009, Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases, J Neurol, 256, 1205, 10.1007/s00415-009-5069-7 Neumann, 2009, A new subtype of frontotemporal lobar degeneration with FUS pathology, Brain, 132, 2922, 10.1093/brain/awp214 Seyfried, 2010, Multiplex SILAC analysis of a cellular TDP-43 proteinopathy model reveals protein inclusions associated with SUMOylation and diverse polyubiquitin chains, Mol Cell Proteomics, 9, 705, 10.1074/mcp.M800390-MCP200 Polymenidou, 2011, Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43, Nat Neurosci, 10.1038/nn.2779 Sephton, 2010, Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes, J Biol Chem, 286, 1204, 10.1074/jbc.M110.190884 Tollervey, 2011, Characterizing the RNA targets and position-dependent splicing regulation by TDP-43, Nat Neurosci, 10.1038/nn.2778 Xiao, 2011, RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS, Mol Cell Neurosci, 10.1016/j.mcn.2011.02.013 Ayala, 2010, TDP-43 regulates its mRNA levels through a negative feedback loop, EMBO J, 30, 277, 10.1038/emboj.2010.310 Buratti, 2004, Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance, Am J Hum Genet, 74, 1322, 10.1086/420978 Elden, 2010, Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS, Nature, 466, 1069, 10.1038/nature09320 Fiesel, 2010, Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6, EMBO J, 29, 209, 10.1038/emboj.2009.324 Kim, 2010, Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA, J Biol Chem, 285, 34097, 10.1074/jbc.M110.154831 Strong, 2007, TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein, Mol Cell Neurosci, 35, 320, 10.1016/j.mcn.2007.03.007 Belzil VV, Daoud H, Dion PA, Rouleau GA: No effect on SOD1 splicing by TARDP or FUS mutations. Arch Neurol 68:395–396 Rabin, 2010, Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology, Hum Mol Genet, 19, 313, 10.1093/hmg/ddp498 Igaz, 2010, Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice, J Clin Invest, 121, 726, 10.1172/JCI44867 Xu, 2010, Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice, J Neurosci, 30, 10851, 10.1523/JNEUROSCI.1630-10.2010 Fujii, 2005, TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines, J Cell Sci, 118, 5755, 10.1242/jcs.02692 Freibaum, 2010, Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery, J Proteome Res, 9, 1104, 10.1021/pr901076y Ling, 2010, ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS, Proc Natl Acad Sci U S A, 107, 13318, 10.1073/pnas.1008227107 Gregory, 2004, The Microprocessor complex mediates the genesis of microRNAs, Nature, 432, 235, 10.1038/nature03120 Ong, 2006, A practical recipe for stable isotope labeling by amino acids in cell culture (SILAC), Nat Protoc, 1, 2650, 10.1038/nprot.2006.427 Ash, 2010, Neurotoxic effects of TDP-43 overexpression in C. elegans, Hum Mol Genet, 19, 3206, 10.1093/hmg/ddq230 Hanson, 2010, Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS), J Biol Chem, 285, 11068, 10.1074/jbc.C109.078527 Kabashi, 2010, Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo, Hum Mol Genet, 19, 671, 10.1093/hmg/ddp534 Laird, 2010, Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy, PLoS ONE, 5, e13368, 10.1371/journal.pone.0013368 Li, 2010, A Drosophila model for TDP-43 proteinopathy, Proc Natl Acad Sci U S A, 107, 3169, 10.1073/pnas.0913602107 Liachko, 2010, Phosphorylation promotes neurotoxicity in a Caenorhabditis elegans model of TDP-43 proteinopathy, J Neurosci, 30, 16208, 10.1523/JNEUROSCI.2911-10.2010 Ritson, 2010, TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97, J Neurosci, 30, 7729, 10.1523/JNEUROSCI.5894-09.2010 Shan, 2010, Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice, Proc Natl Acad Sci U S A, 107, 16325, 10.1073/pnas.1003459107 Stallings, 2010, Progressive motor weakness in transgenic mice expressing human TDP-43, Neurobiol Dis, 40, 404, 10.1016/j.nbd.2010.06.017 Tsai, 2010, Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U, J Exp Med, 207, 1661, 10.1084/jem.20092164 Wegorzewska, 2009, TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration, Proc Natl Acad Sci U S A, 106, 18809, 10.1073/pnas.0908767106 Wils, 2010, TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration, Proc Natl Acad Sci U S A, 107, 3858, 10.1073/pnas.0912417107 Zhou, 2010, Transgenic rat model of neurodegeneration caused by mutation in the TDP gene, PLoS Genet, 6, e1000887, 10.1371/journal.pgen.1000887 Bosco, 2010, Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules, Hum Mol Genet, 19, 4160, 10.1093/hmg/ddq335 Huang, 2011, FUS Transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration, PLoS Genet, 7, e1002011, 10.1371/journal.pgen.1002011 Feiguin, 2009, Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior, FEBS Lett, 583, 1586, 10.1016/j.febslet.2009.04.019 Lu, 2009, Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching, Mol Brain, 2, 30, 10.1186/1756-6606-2-30 Miguel, 2011, Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies, Neurobiol Dis, 41, 398, 10.1016/j.nbd.2010.10.007 Wegorzewska, 2010, TDP-43-based animal models of neurodegeneration: new insights into ALS pathology and pathophysiology, Neurodegener Dis Chiang, 2010, Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism, Proc Natl Acad Sci U S A, 107, 16320, 10.1073/pnas.1002176107 Kraemer, 2010, Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis, Acta Neuropathol, 119, 409, 10.1007/s00401-010-0659-0 Sephton, 2010, TDP-43 is a developmentally regulated protein essential for early embryonic development, J Biol Chem, 285, 6826, 10.1074/jbc.M109.061846 Wu, 2010, TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis, Genesis, 48, 56 Hicks, 2000, Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death, Nat Genet, 24, 175, 10.1038/72842 Kuroda, 2000, Male sterility and enhanced radiation sensitivity in TLS(−/−) mice, EMBO J, 19, 453, 10.1093/emboj/19.3.453 Livet, 2007, Transgenic strategies for combinatorial expression of fluorescent proteins in the nervous system, Nature, 450, 56, 10.1038/nature06293 Boillee, 2006, ALS: a disease of motor neurons and their nonneuronal neighbors, Neuron, 52, 39, 10.1016/j.neuron.2006.09.018 Rosen, 1993, Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis, Nature, 364, 362, 10.1038/364362c0 Momeni, 2006, Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD, BMC Neurol, 6, 44, 10.1186/1471-2377-6-44 Morita, 2006, A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia, Neurology, 66, 839, 10.1212/01.wnl.0000200048.53766.b4 Vance, 2006, Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3, Brain, 129, 868, 10.1093/brain/awl030 Laaksovirta, 2010, Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study, Lancet Neurol, 9, 978, 10.1016/S1474-4422(10)70184-8 Johnson, 2010, Exome sequencing reveals VCP mutations as a cause of familial ALS, Neuron, 68, 857, 10.1016/j.neuron.2010.11.036 Maruyama, 2010, Mutations of optineurin in amyotrophic lateral sclerosis, Nature, 465, 223, 10.1038/nature08971 Chow, 2009, Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS, Am J Hum Genet, 84, 85, 10.1016/j.ajhg.2008.12.010 Mitchell, 2010, Familial amyotrophic lateral sclerosis is associated with a mutation in d-amino acid oxidase, Proc Natl Acad Sci U S A, 107, 7556, 10.1073/pnas.0914128107 Greenway, 2006, ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis, Nat Genet, 38, 411, 10.1038/ng1742