List of works - Emanuele Buratti

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

scientific article (publication date: 28 September 2001)

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

scientific article

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

scholarly article

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

scientific article published on July 2008

TDP-43 regulates its mRNA levels through a negative feedback loop

scientific article

Structural determinants of the cellular localization and shuttling of TDP-43.

scientific article published on 28 October 2008

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

scientific article published on January 2008

TDP-43 is recruited to stress granules in conditions of oxidative insult.

scientific article

Influence of RNA secondary structure on the pre-mRNA splicing process

scientific article

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

scientific article

Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

scientific article published in May 2005

Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.

scientific article

A new type of mutation causes a splicing defect in ATM.

scientific article published on 11 March 2002

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.

scientific article

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

scientific article published on July 2010

Nuclear factor TDP-43 can affect selected microRNA levels

scientific article

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

scientific article published in November 2009

Neurotoxic effects of TDP-43 overexpression in C. elegans

scientific article

Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene.

scientific article

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

scientific article published on June 2004

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

scientific article published on 08 May 2009

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

scientific article published in Journal of Biological Chemistry

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

scientific article published in April 2009

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

scientific article

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

scientific article published on 19 July 2006

Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS.

scientific article published on 24 July 2008

Exon and intron definition in pre-mRNA splicing

scientific article published on 08 October 2012

Identification of a novel vertebrate homeobox gene expressed in haematopoietic cells

scientific article published on November 11, 1992

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

scientific article published on 5 May 2003

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

scientific article published on 18 June 2007

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection.

scientific article

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

scientific article published on 26 March 2016

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

scientific article

Functional analysis of the interaction between HCV 5'UTR and putative subunits of eukaryotic translation initiation factor eIF3

scientific article

RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon

scientific article published on February 2004

TDP-43: gumming up neurons through protein-protein and protein-RNA interactions

scientific article published on 24 April 2012

Analysis of the HMGI nuclear proteins in mouse neoplastic cells induced by different procedures

scientific article published in October 1989

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

scientific article published on August 2009

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

scientific article published on 13 February 2004

The molecular links between TDP-43 dysfunction and neurodegeneration

scientific article published on January 2009

TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization

scientific article

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

scientific article published in December 1999

Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells

scientific article

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

scientific article

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

scientific article published on 15 January 2010

Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region

scientific article published on 10 January 2012

HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition

scientific article published on 17 July 2013

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

scientific article

Functional Significance of TDP-43 Mutations in Disease

scientific article published on 07 August 2015

List of works by Emanuele Buratti

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

TDP-43 regulates its mRNA levels through a negative feedback loop

Structural determinants of the cellular localization and shuttling of TDP-43.

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

TDP-43 is recruited to stress granules in conditions of oxidative insult.

Influence of RNA secondary structure on the pre-mRNA splicing process

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.

A new type of mutation causes a splicing defect in ATM.

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.

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

Nuclear factor TDP-43 can affect selected microRNA levels

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

Neurotoxic effects of TDP-43 overexpression in C. elegans

Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene.

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

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS.

Exon and intron definition in pre-mRNA splicing

Identification of a novel vertebrate homeobox gene expressed in haematopoietic cells

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection.

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

Functional analysis of the interaction between HCV 5'UTR and putative subunits of eukaryotic translation initiation factor eIF3

RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon

TDP-43: gumming up neurons through protein-protein and protein-RNA interactions

Analysis of the HMGI nuclear proteins in mouse neoplastic cells induced by different procedures

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

The molecular links between TDP-43 dysfunction and neurodegeneration

TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region

HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

Functional Significance of TDP-43 Mutations in Disease