Published in Hum Mutat on January 01, 2011
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TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A (2010) 3.39
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Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Hum Mol Genet (2009) 2.50
Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior. FEBS Lett (2009) 2.48
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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum Mol Genet (2009) 2.40
A Drosophila model for TDP-43 proteinopathy. Proc Natl Acad Sci U S A (2010) 2.36
TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis. Genesis (2010) 2.31
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Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43. Hum Mol Genet (2009) 2.23
Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis. Acta Neuropathol (2010) 1.96
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Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. PLoS Genet (2010) 1.81
Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin. J Neurochem (2009) 1.76
Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching. Mol Brain (2009) 1.65
Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS). J Biol Chem (2010) 1.49
The molecular links between TDP-43 dysfunction and neurodegeneration. Adv Genet (2009) 1.46
Caspase-cleaved TAR DNA-binding protein-43 is a major pathological finding in Alzheimer's disease. Brain Res (2008) 1.16
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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci U S A (2009) 3.65
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci (2007) 3.52
Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function. J Mol Biol (2005) 3.33
Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol (2008) 3.13
TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J (2010) 2.90
Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci (2008) 2.79
TDP-43 is recruited to stress granules in conditions of oxidative insult. J Neurochem (2009) 2.57
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene. Nucleic Acids Res (2005) 2.55
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 (2004) 2.35
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem (2003) 2.34
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res (2009) 1.77
Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS. FEBS Lett (2008) 1.76
A new type of mutation causes a splicing defect in ATM. Nat Genet (2002) 1.74
Neurotoxic effects of TDP-43 overexpression in C. elegans. Hum Mol Genet (2010) 1.56
Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene. J Cell Biol (2010) 1.55
TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells. J Biol Chem (2012) 1.50
Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection. Genes Dev (2012) 1.33
Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep (2009) 1.32
An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem (2004) 1.31
Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Nat Struct Mol Biol (2013) 1.25
Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells. FEBS Lett (2008) 1.21
Exon and intron definition in pre-mRNA splicing. Wiley Interdiscip Rev RNA (2012) 1.19
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. Eur J Hum Genet (2009) 1.18
NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett (2006) 1.12
Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBS J (2010) 1.10
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. J Biol Chem (2002) 1.08
Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region. J Biol Chem (2012) 1.08
TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization. PLoS One (2011) 1.07
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A (2012) 1.07
The role of TDP-43 in the pathogenesis of ALS and FTLD. Biochem Soc Trans (2013) 1.01
HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition. Nucleic Acids Res (2013) 1.00
The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function. Prion (2015) 0.97
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Hum Mutat (2005) 0.95
TDP-43 autoregulation: implications for disease. J Mol Neurosci (2011) 0.92
The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors. FEBS Lett (2008) 0.92
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. Eur J Hum Genet (2010) 0.91
CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3. Nucleic Acids Res (2010) 0.90
The secondary structure of the human immunodeficiency virus type 1 transcript modulates viral splicing and infectivity. J Virol (2008) 0.90
The intronic splicing code: multiple factors involved in ATM pseudoexon definition. EMBO J (2010) 0.89
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Neurogenetics (2008) 0.87
Ribosomal protein S1 specifically binds to the 5' untranslated region of the Pseudomonas aeruginosa stationary-phase sigma factor rpoS mRNA in the logarithmic phase of growth. J Bacteriol (2004) 0.87
Complexities of 5'splice site definition: implications in clinical analyses. RNA Biol (2012) 0.86
Characterizing TDP-43 interaction with its RNA targets. Nucleic Acids Res (2013) 0.86
Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation. Nucleic Acids Res (2013) 0.85
Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation. Brain Res (2012) 0.84
Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12. Nucleic Acids Res (2009) 0.84
UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation. J Mol Biol (2011) 0.84
Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1. FEBS J (2008) 0.83
Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43). J Biol Chem (2014) 0.82
Drosophila Answers to TDP-43 Proteinopathies. J Amino Acids (2012) 0.81
InTRONs in biotech. Mol Biotechnol (2011) 0.81
Targeting RNA binding proteins involved in neurodegeneration. J Biomol Screen (2013) 0.80
TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2010) 0.80
Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis. Hum Mol Genet (2011) 0.79
A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion. J Biol Chem (2012) 0.79
Role of pseudoexons and pseudointrons in human cancer. Int J Cell Biol (2013) 0.79
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays. Hum Mutat (2006) 0.79
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents. Nucleic Acids Res (2013) 0.79
Low U1 snRNP dependence at the NF1 exon 29 donor splice site. FEBS J (2009) 0.78
Structural and functional characterization of the 5' region of subgenomic RNA5 of cucumber mosaic virus. J Gen Virol (2008) 0.77
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript. PLoS One (2013) 0.77
Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon. J Mol Biol (2011) 0.76
Targeting TDP-43 in neurodegenerative diseases. Expert Opin Ther Targets (2014) 0.76
TDP-43 and FUS in ALS/FTLD: will common pathways fit all? Neurology (2011) 0.75
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Prediction of interacting protein residues using sequence and structure data. Methods Mol Biol (2012) 0.75
Improving human interferon-beta production in mammalian cell lines by insertion of an intronic sequence within its naturally uninterrupted gene. Biotechnol Appl Biochem (2009) 0.75
RNA and splicing regulation in neurodegeneration. Mol Cell Neurosci (2013) 0.75