Published in Biochem Soc Trans on December 01, 2013
Extracellular vesicle-mediated transfer of genetic information between the hematopoietic system and the brain in response to inflammation. PLoS Biol (2014) 3.46
TDP-43 Depletion in Microglia Promotes Amyloid Clearance but Also Induces Synapse Loss. Neuron (2017) 2.03
Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death. Acta Neuropathol (2015) 0.83
Mass spectrometric analysis of accumulated TDP-43 in amyotrophic lateral sclerosis brains. Sci Rep (2016) 0.80
Akirin2 is essential for the formation of the cerebral cortex. Neural Dev (2016) 0.77
USP7 and TDP-43: Pleiotropic Regulation of Cryptochrome Protein Stability Paces the Oscillation of the Mammalian Circadian Clock. PLoS One (2016) 0.77
TMEM106B expression is reduced in Alzheimer's disease brains. Alzheimers Res Ther (2014) 0.77
Initial gene vector dosing for studying symptomatology of amyotrophic lateral sclerosis in non-human primates. J Med Primatol (2015) 0.76
Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron Degeneration. Front Cell Neurosci (2016) 0.76
The extreme N-terminus of TDP-43 mediates the cytoplasmic aggregation of TDP-43 and associated toxicity in vivo. Brain Res (2016) 0.76
Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP. Acta Neuropathol (2016) 0.76
Inhibition of retrograde transport modulates misfolded protein accumulation and clearance in motoneuron diseases. Autophagy (2017) 0.75
The Overexpression of TDP-43 Protein in the Neuron and Oligodendrocyte Cells Causes the Progressive Motor Neuron Degeneration in the SOD1 G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis. Int J Biol Sci (2016) 0.75
PABPN1 suppresses TDP-43 toxicity in ALS disease models. Hum Mol Genet (2015) 0.75
Changes in the Expression of FUS/TLS in Spinal Cords of SOD1 G93A Transgenic Mice and Correlation with Motor-Neuron Degeneration. Int J Biol Sci (2016) 0.75
Early Cognitive/Social Deficits and Late Motor Phenotype in Conditional Wild-Type TDP-43 Transgenic Mice. Front Aging Neurosci (2016) 0.75
Zinc binding to RNA recognition motif of TDP-43 induces the formation of amyloid-like aggregates. Sci Rep (2017) 0.75
Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72. Front Mol Neurosci (2017) 0.75
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci (2008) 4.01
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. J Biol Chem (2005) 3.99
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
Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet (2004) 3.26
Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol (2008) 3.13
Influence of RNA secondary structure on the pre-mRNA splicing process. Mol Cell Biol (2004) 3.07
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
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet (2003) 2.60
TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression. Proc Natl Acad Sci U S A (2008) 2.58
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
Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior. FEBS Lett (2009) 2.48
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
Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan. J Cell Biol (2003) 2.16
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A (2005) 2.12
An essential role for fibronectin extra type III domain A in pulmonary fibrosis. Am J Respir Crit Care Med (2007) 1.91
Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res (2006) 1.89
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
Prothrombotic effects of fibronectin isoforms containing the EDA domain. Arterioscler Thromb Vasc Biol (2007) 1.66
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
RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon. Mol Cell Biol (2004) 1.54
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
The molecular links between TDP-43 dysfunction and neurodegeneration. Adv Genet (2009) 1.46
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature (2007) 1.46
TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett (2006) 1.45
hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes. Nucleic Acids Res (2004) 1.45
Promoter architecture modulates CFTR exon 9 skipping. J Biol Chem (2002) 1.41
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
A polar mechanism coordinates different regions of alternative splicing within a single gene. Mol Cell (2005) 1.26
Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Nat Struct Mol Biol (2013) 1.25
TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem Sci (2012) 1.24
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
SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer. Nucleic Acids Res (2007) 1.17
Genetic characterization of myeloperoxidase deficiency in Italy. Hum Mutat (2004) 1.14
A major fraction of fibronectin present in the extracellular matrix of tissues is plasma-derived. J Biol Chem (2007) 1.13
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
Complex splicing control of the human Thrombopoietin gene by intronic G runs. Nucleic Acids Res (2006) 1.09
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
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A (2012) 1.07
TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization. PLoS One (2011) 1.07
Brain-specific promoter and polyadenylation sites of the beta-adducin pre-mRNA generate an unusually long 3'-UTR. Nucleic Acids Res (2006) 1.02
HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition. Nucleic Acids Res (2013) 1.00
TDP-43: new aspects of autoregulation mechanisms in RNA binding proteins and their connection with human disease. FEBS J (2011) 0.98
The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function. Prion (2015) 0.97
Functional studies on the ATM intronic splicing processing element. Nucleic Acids Res (2005) 0.97
An intronic mutation causes long QT syndrome. J Am Coll Cardiol (2004) 0.97
RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events. Nucleic Acids Res (2007) 0.96
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
Absence of regulated splicing of fibronectin EDA exon reduces atherosclerosis in mice. Atherosclerosis (2007) 0.93
The erythrocyte skeletons of beta-adducin deficient mice have altered levels of tropomyosin, tropomodulin and EcapZ. FEBS Lett (2004) 0.93
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
Mutually exclusive splicing regulates the Nav 1.6 sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands. Nucleic Acids Res (2012) 0.90
Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis (2004) 0.90
The secondary structure of the human immunodeficiency virus type 1 transcript modulates viral splicing and infectivity. J Virol (2008) 0.90
An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3. J Biol Chem (2004) 0.89
The intronic splicing code: multiple factors involved in ATM pseudoexon definition. EMBO J (2010) 0.89
From single splicing events to thousands: the ambiguous step forward in splicing research. Brief Funct Genomics (2012) 0.88
Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better? Trends Mol Med (2003) 0.88
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