PubRank

Emanuele Buratti

Author PubWeight™ 97.06‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008 14.09
2 Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci U S A 2009 3.65
3 Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci 2007 3.52
4 Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function. J Mol Biol 2005 3.33
5 Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol 2008 3.13
6 TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J 2010 2.90
7 Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci 2008 2.79
8 TDP-43 is recruited to stress granules in conditions of oxidative insult. J Neurochem 2009 2.57
9 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
10 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
11 Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem 2003 2.34
12 Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res 2009 1.77
13 Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS. FEBS Lett 2008 1.76
14 A new type of mutation causes a splicing defect in ATM. Nat Genet 2002 1.74
15 Neurotoxic effects of TDP-43 overexpression in C. elegans. Hum Mol Genet 2010 1.56
16 Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene. J Cell Biol 2010 1.55
17 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
18 Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection. Genes Dev 2012 1.33
19 Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 2009 1.32
20 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
21 Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Nat Struct Mol Biol 2013 1.25
22 Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells. FEBS Lett 2008 1.21
23 Exon and intron definition in pre-mRNA splicing. Wiley Interdiscip Rev RNA 2012 1.19
24 Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. Eur J Hum Genet 2009 1.18
25 NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett 2006 1.12
26 Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBS J 2010 1.10
27 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
28 Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. J Biol Chem 2002 1.08
29 Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A 2012 1.07
30 TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization. PLoS One 2011 1.07
31 The role of TDP-43 in the pathogenesis of ALS and FTLD. Biochem Soc Trans 2013 1.01
32 HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition. Nucleic Acids Res 2013 1.00
33 The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function. Prion 2015 0.97
34 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
35 TDP-43 autoregulation: implications for disease. J Mol Neurosci 2011 0.92
36 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
37 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
38 CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3. Nucleic Acids Res 2010 0.90
39 The secondary structure of the human immunodeficiency virus type 1 transcript modulates viral splicing and infectivity. J Virol 2008 0.90
40 The intronic splicing code: multiple factors involved in ATM pseudoexon definition. EMBO J 2010 0.89
41 Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Neurogenetics 2008 0.87
42 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
43 Characterizing TDP-43 interaction with its RNA targets. Nucleic Acids Res 2013 0.86
44 Complexities of 5'splice site definition: implications in clinical analyses. RNA Biol 2012 0.86
45 Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation. Nucleic Acids Res 2013 0.85
46 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
47 Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12. Nucleic Acids Res 2009 0.84
48 UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation. J Mol Biol 2011 0.84
49 Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon. RNA 2006 0.84
50 Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1. FEBS J 2008 0.83
51 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
52 Drosophila Answers to TDP-43 Proteinopathies. J Amino Acids 2012 0.81
53 InTRONs in biotech. Mol Biotechnol 2011 0.81
54 TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2010 0.80
55 Targeting RNA binding proteins involved in neurodegeneration. J Biomol Screen 2013 0.80
56 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
57 Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis. Hum Mol Genet 2011 0.79
58 Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents. Nucleic Acids Res 2013 0.79
59 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
60 Role of pseudoexons and pseudointrons in human cancer. Int J Cell Biol 2013 0.79
61 Low U1 snRNP dependence at the NF1 exon 29 donor splice site. FEBS J 2009 0.78
62 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
63 PRO-MINE: A bioinformatics repository and analytical tool for TARDBP mutations. Hum Mutat 2011 0.77
64 Structural and functional characterization of the 5' region of subgenomic RNA5 of cucumber mosaic virus. J Gen Virol 2008 0.77
65 Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon. J Mol Biol 2011 0.76
66 Targeting TDP-43 in neurodegenerative diseases. Expert Opin Ther Targets 2014 0.76
67 TDP-43 and FUS in ALS/FTLD: will common pathways fit all? Neurology 2011 0.75
68 TDP-43: Overview of the series. FEBS J 2011 0.75
69 RNA and splicing regulation in neurodegeneration. Mol Cell Neurosci 2013 0.75
70 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