DOI: 10.1093/hmg/ddu216. TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1

TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1

10.1093/hmg/ddu216

Crossref journal-article

Oxford University Press (OUP)

Human Molecular Genetics (286)

Bibliography

He, F., Krans, A., Freibaum, B. D., Taylor, J. P., & Todd, P. K. (2014). TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1. Human Molecular Genetics, 23(19), 5036â5051.

Authors 5

Fang He (first)
Amy Krans (additional)
Brian D. Freibaum (additional)
J. Paul Taylor (additional)
Peter K. Todd (additional)

References 79 Referenced 53

10.1001/jama.291.4.460 / JAMA / Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population (2004)
10.1212/WNL.57.1.127 / Neurology / Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X (2001)
10.1016/0092-8674(91)90125-I / Cell / Absence of expression of the FMR-1 gene in fragile X syndrome (1991)
10.1016/0092-8674(91)90397-H / Cell / Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome (1991)
10.1086/302720 / Am. J. Hum. Genet. / Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome (2000)
10.1093/hmg/10.14.1449 / Hum. Mol. Genet. / Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers (2001)
10.4161/rna.1.2.1035 / RNA Biol. / FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS) (2004)
10.1007/s00401-013-1138-1 / Acta Neuropathol. / Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms (2013)
10.1016/j.pneurobio.2011.10.006 / Prog. Neurobiol. / Neurodegeneration the RNA way (2012)
10.1016/S0896-6273(03)00533-6 / Neuron / RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila (2003)
10.1042/BST0371281 / Biochem. Soc. Trans. / Pathogenic mechanisms of myotonic dystrophy (2009)
10.1126/science.1088583 / Science / A muscleblind knockout model for myotonic dystrophy (2003)
10.1073/pnas.0604970103 / Proc. Natl Acad. Sci. USA / Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy (2006)
10.1016/j.neuron.2012.05.029 / Neuron / Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy (2012)
10.1016/j.neuron.2007.07.020 / Neuron / Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome (2007)
10.1016/j.neuron.2007.07.021 / Neuron / RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS (2007)
10.1038/emboj.2010.21 / EMBO J. / Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients (2010)
10.1016/j.celrep.2013.02.004 / Cell Reports / Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome (2013)
10.1093/brain/awh650 / Brain / Protein composition of the intranuclear inclusions of FXTAS (2006)
10.1083/jcb.201010027 / J. Cell Biol. / Spatial code recognition in neuronal RNA targeting: role of RNA-hnRNP A2 interactions (2011)
10.1093/hmg/ddr437 / Hum. Mol. Genet. / Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration (2012)
10.1016/j.cell.2013.07.038 / Cell / Altered ribostasis: RNA-protein granules in degenerative disorders (2013)
10.1126/science.1134108 / Science / Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis (2006)
10.1126/science.1154584 / Science / TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis (2008)
10.1126/science.1165942 / Science / Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 (2009)
10.1038/ng.132 / Nat. Genet. / TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis (2008)
10.1126/science.1166066 / Science / Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis (2009)
10.1073/pnas.1109434108 / Proc. Natl Acad. Sci. USA / A yeast functional screen predicts new candidate ALS disease genes (2011)
10.1038/nature11922 / Nature / Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS (2013)
10.1016/j.neuron.2011.09.011 / Neuron / Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS (2011)
10.1016/j.neuron.2011.09.010 / Neuron / A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD (2011)
10.1007/s00401-013-1149-y / Acta Neuropathol / Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons (2013)
10.1523/JNEUROSCI.5894-09.2010 / J. Neurosci. / TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97 (2010)
10.1093/hmg/ddr150 / Hum. Mol. Genet. / A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43 (2011)
10.1128/JVI.69.6.3584-3596.1995 / J. Virol. / Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs (1995)
10.1074/jbc.M110.154831 / J. Biol. Chem. / Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA (2010)
10.1038/nn.2778 / Nat. Neurosci. / Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 (2011)
10.1038/nn.2779 / Nat. Neurosci. / Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43 (2011)
10.1371/journal.pone.0013250 / PLoS One / Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue (2010)
10.1093/hmg/ddr021 / Hum. Mol. Genet. / TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1 (2011)
10.1074/jbc.M111.231118 / J. Biol. Chem. / A ‘two-hit’ hypothesis for inclusion formation by carboxyl-terminal fragments of TDP-43 protein linked to RNA depletion and impaired microtubule-dependent transport (2011)
10.1371/journal.pgen.1001240 / PLoS Genet. / Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome (2010)
10.1038/emboj.2009.324 / EMBO J. / Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6 (2010)
10.1016/j.neuron.2013.03.026 / Neuron / CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome (2013)
10.1093/hmg/ddp497 / Hum. Mol. Genet. / Fibroblast phenotype in male carriers of FMR1 premutation alleles (2010)
10.1093/nar/gkp342 / Nucleic. Acids Res. / Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo (2009)
10.1093/hmg/ddq137 / Hum. Mol. Genet. / TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration (2010)
10.1016/j.cell.2012.04.016 / Cell / Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies (2012)
10.1074/jbc.M104236200 / J. Biol. Chem. / Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9 (2001)
10.1371/journal.pone.0012247 / PLoS One / TDP-43-mediated neuron loss in vivo requires RNA-binding activity (2010)
10.1074/jbc.M109.010264 / J. Biol. Chem. / TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity (2009)
{'key': 'key\n\t\t\t\t20170522151052_DDU216C52', 'first-page': '356081', 'article-title': 'Drosophila Answers to TDP-43 Proteinopathies', 'volume': '2012', 'year': '2012', 'journal-title': 'J. Amino Acids'} / J. Amino Acids / Drosophila Answers to TDP-43 Proteinopathies (2012)
10.1021/pr901076y / J. Proteome Res / Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery (2010)
10.1074/jbc.M505557200 / J. Biol. Chem. / TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing (2005)
10.1016/j.celrep.2012.02.001 / Cell Reports / Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins (2012)
10.1016/j.molcel.2009.01.022 / Mol. Cell / Genome-wide analysis of alternative pre-mRNA splicing and RNA-binding specificities of the Drosophila hnRNP A/B family members (2009)
10.1242/dev.02353 / Development / Drosophila Eph receptor guides specific axon branches of mushroom body neurons (2006)
10.1006/mcne.1999.0752 / Mol. Cel. Neurosci. / Isolation and characterization of Dek, a Drosophila eph receptor protein tyrosine kinase (1999)
10.1002/dvg.20584 / Genesis / TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis (2010)
10.1074/jbc.M109.061846 / J. Biol. Chem. / TDP-43 is a developmentally regulated protein essential for early embryonic development (2010)
10.1073/pnas.0800546105 / Proc. Natl Acad. Sci. USA / TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression (2008)
10.1074/jbc.M109.012195 / J. Biol. Chem. / TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases (2009)
10.1186/1756-6606-2-30 / Mol. Brain / Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching (2009)
10.1093/hmg/ddr124 / Hum. Mol. Genet. / Wild-type and A315 T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS (2011)
10.1016/j.celrep.2012.12.014 / Cell Reports / TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila (2013)
10.1093/brain/awt029 / Brain / Loss of TDP-43 causes age-dependent progressive motor neuron degeneration (2013)
10.1073/pnas.0913602107 / Proc. Natl Acad. Sci. USA / A Drosophila model for TDP-43 proteinopathy (2010)
10.1074/jbc.C109.078527 / J. Biol. Chem. / Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS) (2010)
10.1038/mt.2009.3 / Mol. Ther. / Mimicking aspects of frontotemporal lobar degeneration and Lou Gehrig's disease in rats via TDP-43 overexpression (2009)
10.1073/pnas.0912417107 / Proc. Natl Acad. Sci. USA / TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration (2010)
10.1007/s00018-008-8532-1 / Cell. Mol. Life Sci. CMLS / Nuclear functions of heterogeneous nuclear ribonucleoproteins A/B (2009)
10.1038/srep01016 / Sci. Reports / C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes (2012)
10.1074/jbc.C113.452532 / J. Biol. Chem. / The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures (2013)
10.1007/s00401-013-1088-7 / Acta Neuropathol. / hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations (2013)
{'key': 'key\n\t\t\t\t20170522151052_DDU216C75', 'first-page': '208ra149', 'article-title': 'Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion', 'volume': '5', 'year': '2013', 'journal-title': 'Sci. Trans. Med.'} / Sci. Trans. Med. / Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion (2013)
10.1073/pnas.0611511104 / Proc. Natl Acad. Sci. USA / An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases (2007)
{'key': 'key\n\t\t\t\t20170522151052_DDU216C77', 'first-page': '859', 'article-title': 'HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS', 'volume': '447', 'year': '2007', 'journal-title': 'Nature'} / Nature / HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS (2007)
10.1016/S1097-2765(02)00563-4 / Mol. Cell / Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy (2002)
10.1002/mds.20753 / Mov. Disord. / Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study (2006)

Dates

Type	When
Created	11 years, 3 months ago (May 9, 2014, 12:21 a.m.)
Deposited	1 year, 2 months ago (May 26, 2024, 10:30 a.m.)
Indexed	1 year ago (Aug. 6, 2024, 2:04 a.m.)
Issued	11 years, 3 months ago (May 8, 2014)
Published	11 years, 3 months ago (May 8, 2014)
Published Online	11 years, 3 months ago (May 8, 2014)
Published Print	10 years, 10 months ago (Oct. 1, 2014)

Funders 0

None

BibTeX

@article{He_2014, title={TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1}, volume={23}, ISSN={1460-2083}, url={http://dx.doi.org/10.1093/hmg/ddu216}, DOI={10.1093/hmg/ddu216}, number={19}, journal={Human Molecular Genetics}, publisher={Oxford University Press (OUP)}, author={He, Fang and Krans, Amy and Freibaum, Brian D. and Taylor, J. Paul and Todd, Peter K.}, year={2014}, month=may, pages={5036–5051} }

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      "journal-title": "Cell"
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      "first-page": "6",
      "DOI": "10.1086/302720",
      "article-title": "Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome",
      "volume": "66",
      "year": "2000",
      "journal-title": "Am. J. Hum. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C6",
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      "first-page": "1449",
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      "article-title": "Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers",
      "volume": "10",
      "year": "2001",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C7",
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      "first-page": "103",
      "DOI": "10.4161/rna.1.2.1035",
      "article-title": "FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)",
      "volume": "1",
      "year": "2004",
      "journal-title": "RNA Biol."
    },
    {
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      "first-page": "1",
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      "article-title": "Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms",
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      "year": "2007",
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      "first-page": "565",
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      "volume": "55",
      "year": "2007",
      "journal-title": "Neuron"
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    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C17",
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      "first-page": "1248",
      "DOI": "10.1038/emboj.2010.21",
      "article-title": "Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients",
      "volume": "29",
      "year": "2010",
      "journal-title": "EMBO J."
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    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C18",
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      "first-page": "869",
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      "volume": "3",
      "year": "2013",
      "journal-title": "Cell Reports"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C19",
      "doi-asserted-by": "crossref",
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      "key": "key\n\t\t\t\t20170522151052_DDU216C20",
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      "first-page": "441",
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      "article-title": "Spatial code recognition in neuronal RNA targeting: role of RNA-hnRNP A2 interactions",
      "volume": "194",
      "year": "2011",
      "journal-title": "J. Cell Biol."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C21",
      "doi-asserted-by": "crossref",
      "first-page": "57",
      "DOI": "10.1093/hmg/ddr437",
      "article-title": "Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration",
      "volume": "21",
      "year": "2012",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C22",
      "doi-asserted-by": "crossref",
      "first-page": "727",
      "DOI": "10.1016/j.cell.2013.07.038",
      "article-title": "Altered ribostasis: RNA-protein granules in degenerative disorders",
      "volume": "154",
      "year": "2013",
      "journal-title": "Cell"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C23",
      "doi-asserted-by": "crossref",
      "first-page": "130",
      "DOI": "10.1126/science.1134108",
      "article-title": "Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis",
      "volume": "314",
      "year": "2006",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C24",
      "doi-asserted-by": "crossref",
      "first-page": "1668",
      "DOI": "10.1126/science.1154584",
      "article-title": "TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis",
      "volume": "319",
      "year": "2008",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C25",
      "doi-asserted-by": "crossref",
      "first-page": "1208",
      "DOI": "10.1126/science.1165942",
      "article-title": "Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6",
      "volume": "323",
      "year": "2009",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C26",
      "doi-asserted-by": "crossref",
      "first-page": "572",
      "DOI": "10.1038/ng.132",
      "article-title": "TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis",
      "volume": "40",
      "year": "2008",
      "journal-title": "Nat. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C27",
      "doi-asserted-by": "crossref",
      "first-page": "1205",
      "DOI": "10.1126/science.1166066",
      "article-title": "Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis",
      "volume": "323",
      "year": "2009",
      "journal-title": "Science"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C28",
      "doi-asserted-by": "crossref",
      "first-page": "20881",
      "DOI": "10.1073/pnas.1109434108",
      "article-title": "A yeast functional screen predicts new candidate ALS disease genes",
      "volume": "108",
      "year": "2011",
      "journal-title": "Proc. Natl Acad. Sci. USA"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C29",
      "doi-asserted-by": "crossref",
      "first-page": "467",
      "DOI": "10.1038/nature11922",
      "article-title": "Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS",
      "volume": "495",
      "year": "2013",
      "journal-title": "Nature"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C30",
      "doi-asserted-by": "crossref",
      "first-page": "245",
      "DOI": "10.1016/j.neuron.2011.09.011",
      "article-title": "Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS",
      "volume": "72",
      "year": "2011",
      "journal-title": "Neuron"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C31",
      "doi-asserted-by": "crossref",
      "first-page": "257",
      "DOI": "10.1016/j.neuron.2011.09.010",
      "article-title": "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD",
      "volume": "72",
      "year": "2011",
      "journal-title": "Neuron"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C32",
      "doi-asserted-by": "crossref",
      "first-page": "385",
      "DOI": "10.1007/s00401-013-1149-y",
      "article-title": "Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons",
      "volume": "126",
      "year": "2013",
      "journal-title": "Acta Neuropathol"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C33",
      "doi-asserted-by": "crossref",
      "first-page": "7729",
      "DOI": "10.1523/JNEUROSCI.5894-09.2010",
      "article-title": "TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97",
      "volume": "30",
      "year": "2010",
      "journal-title": "J. Neurosci."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C34",
      "doi-asserted-by": "crossref",
      "first-page": "2510",
      "DOI": "10.1093/hmg/ddr150",
      "article-title": "A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43",
      "volume": "20",
      "year": "2011",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C35",
      "doi-asserted-by": "crossref",
      "first-page": "3584",
      "DOI": "10.1128/JVI.69.6.3584-3596.1995",
      "article-title": "Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs",
      "volume": "69",
      "year": "1995",
      "journal-title": "J. Virol."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C36",
      "doi-asserted-by": "crossref",
      "first-page": "34097",
      "DOI": "10.1074/jbc.M110.154831",
      "article-title": "Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA",
      "volume": "285",
      "year": "2010",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C37",
      "doi-asserted-by": "crossref",
      "first-page": "452",
      "DOI": "10.1038/nn.2778",
      "article-title": "Characterizing the RNA targets and position-dependent splicing regulation by TDP-43",
      "volume": "14",
      "year": "2011",
      "journal-title": "Nat. Neurosci."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C38",
      "doi-asserted-by": "crossref",
      "first-page": "459",
      "DOI": "10.1038/nn.2779",
      "article-title": "Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43",
      "volume": "14",
      "year": "2011",
      "journal-title": "Nat. Neurosci."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C39",
      "doi-asserted-by": "crossref",
      "first-page": "e13250",
      "DOI": "10.1371/journal.pone.0013250",
      "article-title": "Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue",
      "volume": "5",
      "year": "2010",
      "journal-title": "PLoS One"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C40",
      "doi-asserted-by": "crossref",
      "first-page": "1400",
      "DOI": "10.1093/hmg/ddr021",
      "article-title": "TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1",
      "volume": "20",
      "year": "2011",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C41",
      "doi-asserted-by": "crossref",
      "first-page": "18845",
      "DOI": "10.1074/jbc.M111.231118",
      "article-title": "A \u2018two-hit\u2019 hypothesis for inclusion formation by carboxyl-terminal fragments of TDP-43 protein linked to RNA depletion and impaired microtubule-dependent transport",
      "volume": "286",
      "year": "2011",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C42",
      "doi-asserted-by": "crossref",
      "first-page": "e1001240",
      "DOI": "10.1371/journal.pgen.1001240",
      "article-title": "Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome",
      "volume": "6",
      "year": "2010",
      "journal-title": "PLoS Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C43",
      "doi-asserted-by": "crossref",
      "first-page": "209",
      "DOI": "10.1038/emboj.2009.324",
      "article-title": "Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6",
      "volume": "29",
      "year": "2010",
      "journal-title": "EMBO J."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C44",
      "doi-asserted-by": "crossref",
      "first-page": "440",
      "DOI": "10.1016/j.neuron.2013.03.026",
      "article-title": "CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome",
      "volume": "78",
      "year": "2013",
      "journal-title": "Neuron"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C45",
      "doi-asserted-by": "crossref",
      "first-page": "299",
      "DOI": "10.1093/hmg/ddp497",
      "article-title": "Fibroblast phenotype in male carriers of FMR1 premutation alleles",
      "volume": "19",
      "year": "2010",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C46",
      "doi-asserted-by": "crossref",
      "first-page": "4116",
      "DOI": "10.1093/nar/gkp342",
      "article-title": "Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo",
      "volume": "37",
      "year": "2009",
      "journal-title": "Nucleic. Acids Res."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C47",
      "doi-asserted-by": "crossref",
      "first-page": "R46",
      "DOI": "10.1093/hmg/ddq137",
      "article-title": "TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration",
      "volume": "19",
      "year": "2010",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C48",
      "doi-asserted-by": "crossref",
      "first-page": "768",
      "DOI": "10.1016/j.cell.2012.04.016",
      "article-title": "Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies",
      "volume": "149",
      "year": "2012",
      "journal-title": "Cell"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C49",
      "doi-asserted-by": "crossref",
      "first-page": "36337",
      "DOI": "10.1074/jbc.M104236200",
      "article-title": "Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9",
      "volume": "276",
      "year": "2001",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C50",
      "doi-asserted-by": "crossref",
      "first-page": "e12247",
      "DOI": "10.1371/journal.pone.0012247",
      "article-title": "TDP-43-mediated neuron loss in vivo requires RNA-binding activity",
      "volume": "5",
      "year": "2010",
      "journal-title": "PLoS One"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C51",
      "doi-asserted-by": "crossref",
      "first-page": "20329",
      "DOI": "10.1074/jbc.M109.010264",
      "article-title": "TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity",
      "volume": "284",
      "year": "2009",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C52",
      "first-page": "356081",
      "article-title": "Drosophila Answers to TDP-43 Proteinopathies",
      "volume": "2012",
      "year": "2012",
      "journal-title": "J. Amino Acids"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C53",
      "doi-asserted-by": "crossref",
      "first-page": "1104",
      "DOI": "10.1021/pr901076y",
      "article-title": "Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery",
      "volume": "9",
      "year": "2010",
      "journal-title": "J. Proteome Res"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C54",
      "doi-asserted-by": "crossref",
      "first-page": "37572",
      "DOI": "10.1074/jbc.M505557200",
      "article-title": "TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing",
      "volume": "280",
      "year": "2005",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C55",
      "doi-asserted-by": "crossref",
      "first-page": "167",
      "DOI": "10.1016/j.celrep.2012.02.001",
      "article-title": "Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins",
      "volume": "1",
      "year": "2012",
      "journal-title": "Cell Reports"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C56",
      "doi-asserted-by": "crossref",
      "first-page": "438",
      "DOI": "10.1016/j.molcel.2009.01.022",
      "article-title": "Genome-wide analysis of alternative pre-mRNA splicing and RNA-binding specificities of the Drosophila hnRNP A/B family members",
      "volume": "33",
      "year": "2009",
      "journal-title": "Mol. Cell"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C57",
      "doi-asserted-by": "crossref",
      "first-page": "1845",
      "DOI": "10.1242/dev.02353",
      "article-title": "Drosophila Eph receptor guides specific axon branches of mushroom body neurons",
      "volume": "133",
      "year": "2006",
      "journal-title": "Development"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C58",
      "doi-asserted-by": "crossref",
      "first-page": "337",
      "DOI": "10.1006/mcne.1999.0752",
      "article-title": "Isolation and characterization of Dek, a Drosophila eph receptor protein tyrosine kinase",
      "volume": "13",
      "year": "1999",
      "journal-title": "Mol. Cel. Neurosci."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C59",
      "doi-asserted-by": "crossref",
      "first-page": "56",
      "DOI": "10.1002/dvg.20584",
      "article-title": "TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis",
      "volume": "48",
      "year": "2010",
      "journal-title": "Genesis"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C60",
      "doi-asserted-by": "crossref",
      "first-page": "6826",
      "DOI": "10.1074/jbc.M109.061846",
      "article-title": "TDP-43 is a developmentally regulated protein essential for early embryonic development",
      "volume": "285",
      "year": "2010",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C61",
      "doi-asserted-by": "crossref",
      "first-page": "3785",
      "DOI": "10.1073/pnas.0800546105",
      "article-title": "TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression",
      "volume": "105",
      "year": "2008",
      "journal-title": "Proc. Natl Acad. Sci. USA"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C62",
      "doi-asserted-by": "crossref",
      "first-page": "22059",
      "DOI": "10.1074/jbc.M109.012195",
      "article-title": "TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases",
      "volume": "284",
      "year": "2009",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C63",
      "doi-asserted-by": "crossref",
      "first-page": "30",
      "DOI": "10.1186/1756-6606-2-30",
      "article-title": "Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching",
      "volume": "2",
      "year": "2009",
      "journal-title": "Mol. Brain"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C64",
      "doi-asserted-by": "crossref",
      "first-page": "2308",
      "DOI": "10.1093/hmg/ddr124",
      "article-title": "Wild-type and A315 T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS",
      "volume": "20",
      "year": "2011",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C65",
      "doi-asserted-by": "crossref",
      "first-page": "160",
      "DOI": "10.1016/j.celrep.2012.12.014",
      "article-title": "TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila",
      "volume": "3",
      "year": "2013",
      "journal-title": "Cell Reports"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C66",
      "doi-asserted-by": "crossref",
      "first-page": "1371",
      "DOI": "10.1093/brain/awt029",
      "article-title": "Loss of TDP-43 causes age-dependent progressive motor neuron degeneration",
      "volume": "136",
      "year": "2013",
      "journal-title": "Brain"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C67",
      "doi-asserted-by": "crossref",
      "first-page": "3169",
      "DOI": "10.1073/pnas.0913602107",
      "article-title": "A Drosophila model for TDP-43 proteinopathy",
      "volume": "107",
      "year": "2010",
      "journal-title": "Proc. Natl Acad. Sci. USA"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C68",
      "doi-asserted-by": "crossref",
      "first-page": "11068",
      "DOI": "10.1074/jbc.C109.078527",
      "article-title": "Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS)",
      "volume": "285",
      "year": "2010",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C69",
      "doi-asserted-by": "crossref",
      "first-page": "607",
      "DOI": "10.1038/mt.2009.3",
      "article-title": "Mimicking aspects of frontotemporal lobar degeneration and Lou Gehrig's disease in rats via TDP-43 overexpression",
      "volume": "17",
      "year": "2009",
      "journal-title": "Mol. Ther."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C70",
      "doi-asserted-by": "crossref",
      "first-page": "3858",
      "DOI": "10.1073/pnas.0912417107",
      "article-title": "TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration",
      "volume": "107",
      "year": "2010",
      "journal-title": "Proc. Natl Acad. Sci. USA"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C71",
      "doi-asserted-by": "crossref",
      "first-page": "1239",
      "DOI": "10.1007/s00018-008-8532-1",
      "article-title": "Nuclear functions of heterogeneous nuclear ribonucleoproteins A/B",
      "volume": "66",
      "year": "2009",
      "journal-title": "Cell. Mol. Life Sci. CMLS"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C72",
      "doi-asserted-by": "crossref",
      "first-page": "1016",
      "DOI": "10.1038/srep01016",
      "article-title": "C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes",
      "volume": "2",
      "year": "2012",
      "journal-title": "Sci. Reports"
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C73",
      "doi-asserted-by": "crossref",
      "first-page": "9860",
      "DOI": "10.1074/jbc.C113.452532",
      "article-title": "The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures",
      "volume": "288",
      "year": "2013",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C74",
      "doi-asserted-by": "crossref",
      "first-page": "413",
      "DOI": "10.1007/s00401-013-1088-7",
      "article-title": "hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations",
      "volume": "125",
      "year": "2013",
      "journal-title": "Acta Neuropathol."
    },
    {
      "key": "key\n\t\t\t\t20170522151052_DDU216C75",
      "first-page": "208ra149",
      "article-title": "Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion",
      "volume": "5",
      "year": "2013",
      "journal-title": "Sci. Trans. Med."
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