E. Buratti

Publications202
h-index57
Citations12,508
Highly Influential Citations633
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Phosphorylated TDP‐43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
TAR DNA‐binding protein of 43kDa (TDP‐43) is deposited as cytoplasmic and intranuclear inclusions in brains of patients with frontotemporal lobar degeneration with ubiquitinated inclusions (FTLD‐U)… Expand
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TDP‐43 is recruited to stress granules in conditions of oxidative insult
Transactive response DNA‐binding protein 43 (TDP‐43) forms abnormal ubiquitinated and phosphorylated inclusions in brain tissues from patients with amyotrophic lateral sclerosis (ALS) and… Expand
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TDP‐43 regulates its mRNA levels through a negative feedback loop
TAR DNA‐binding protein (TDP‐43) is an evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) involved in RNA processing, whose abnormal cellular distribution and post‐translational… Expand
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Structural determinants of the cellular localization and shuttling of TDP-43
TDP-43 (also known as TARDBP) regulates different processes of gene expression, including transcription and splicing, through RNA and DNA binding. Moreover, recent reports have shown that the protein… Expand
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Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity
Inclusions of TAR DNA-binding protein-43 (TDP-43), a nuclear protein that regulates transcription and RNA splicing, are the defining histopathological feature of frontotemporal lobar degeneration… Expand
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Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
Alternative splicing of human cystic fibrosis transmembrane conductance regulator (CFTR) exon 9 is regulated by a combination of cis‐acting elements distributed through the exon and both flanking… Expand
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High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis
Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in the TARDBP gene encoding TAR DNA binding protein (TDP)‐43, the major protein of the ubiquitinated… Expand
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Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator ofCFTR Exon 9*
Variations in a polymorphic (TG)m sequence near exon 9 of the human CFTR gene have been associated with variable proportions of exon skipping and occurrence of disease. We have recently identified… Expand
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Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function.
TAR DNA binding protein (TDP43), a highly conserved heterogeneous nuclear ribonucleoprotein, was found to down-regulate splicing of the exon 9 cystic fibrosis transmembrane conductance regulator… Expand
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Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease
It has been recently demonstrated that the 43‐kDa transactive response (TAR)‐DNA‐binding protein (TARDBP) is the neuropathological hallmark of Frontotemporal Dementia (FTD) with ubiquitin‐positive… Expand
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