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List of works by Emanuele Buratti

"Structural characterization of the minimal segment of TDP-43 competent for aggregation".

scientific article published on 15 January 2014

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).

scientific article

A neutralizing monoclonal antibody previously mapped exclusively on human immunodeficiency virus type 1 gp41 recognizes an epitope in p17 sharing the core sequence IEEE.

scientific article

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

scientific article published on 11 March 2002

A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion.

scientific article published on 10 July 2012

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

scientific article

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

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

scholarly article

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

scientific article published on 24 July 2008

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

scientific article

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

scientific article

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

scientific article published on 15 January 2010

An Amyloid-Like Pathological Conformation of TDP-43 Is Stabilized by Hypercooperative Hydrogen Bonds

scientific article published on 17 November 2016

An age-related reduction of brain TBPH/TDP-43 levels precedes the onset of locomotion defects in a Drosophila ALS model.

scientific article published on 27 October 2015

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

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

scientific article published in October 1989

Another step forward for SELEXive splicing.

scientific article

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

scientific article published on 27 July 2017

Antibodies to a merozoite surface protein promote multiple invasion of red blood cells by malaria parasites

scientific article

Antibody against TDP-43 phosphorylated at serine 375 suggests conformational differences of TDP-43 aggregates among FTLD-TDP subtypes

scientific article published on 10 August 2020

Antinuclear antibodies in Frontotemporal Dementia: the tip's of autoimmunity iceberg?

scientific article published on 19 October 2018

Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology

scientific article published on 29 July 2019

Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72.

scientific article

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

scientific article

BRCA1 exon 11 a model of long exon splicing regulation

scientific article published on 18 March 2014

CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.

scientific article published on 14 July 2010

Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?

scientific article published in June 2003

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

scientific article published on 05 April 2022

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

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)

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

article

Characterizing TDP-43 interaction with its RNA targets

scientific article published on 21 March 2013

Chronological requirements of TDP-43 function in synaptic organization and locomotive control

scientific article published in August 2014

Clobetasol promotes neuromuscular plasticity in mice after motoneuronal loss via sonic hedgehog signaling, immunomodulation and metabolic rebalancing

scientific article published on 16 June 2021

Comparison of multiple forms of the high mobility group I proteins in rodent and human cells. Identification of the human high mobility group I-C protein

scientific article published on 23 May 1991

Complexities of 5'splice site definition: Implications in clinical analyses

scientific article published on 23 May 2012

Conformational display of two neutralizing epitopes of HIV-1 gp41 on the Flock House virus capsid protein

scientific article published in October 1996

Correction to: Antibody against TDP-43 phosphorylated at serine 369 suggests conformational differences of TDP-43 aggregates among FTLD-TDP subtypes

scientific article published on 03 November 2020

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

scientific article

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites ⬇️

scientific article published on October 6, 2010

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

scientific article published on 19 July 2006

Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

scientific article published on 20 November 2020

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

scientific article

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

scientific article published on 12 November 2016

Diagnostic performance of a colorimetric RT -LAMP for the identification of SARS-CoV-2: A multicenter prospective clinical evaluation in sub-Saharan Africa

scientific article published on 28 August 2021

Differential expression of a novel proline-rich homeobox gene (Prh) in human hematolymphopoietic cells

scientific article

Drosophila Answers to TDP-43 Proteinopathies

scientific article published on 18 April 2012

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

scientific article

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

scientific article published on 27 December 2018

Editorial: Role of RNA Modification in Disease

scientific article published on 23 October 2019

Electrostatic Repulsion Governs TDP-43 C-terminal Domain Aggregation

scientific article

Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43).

scientific article published on 03 February 2014

Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon

scientific article published in June 2011

Exon and intron definition in pre-mRNA splicing

scientific article published on 08 October 2012

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools

scientific article published on 21 February 2014

Exon skipping mutations in neurofibromatosis

scientific article published on January 2012

Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis

scientific article

Florbetapir F 18 for brain imaging of beta-amyloid plaques

scientific article published on March 1, 2013

From single splicing events to thousands: the ambiguous step forward in splicing research

scientific article

From transcriptomic to protein level changes in TDP-43 and FUS loss-of-function cell models.

scientific article published on 26 October 2015

Functional Significance of TDP-43 Mutations in Disease

scientific article published on 07 August 2015

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

scientific article published in December 1999

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

scientific article

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

scientific article published on 22 October 2013

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

scientific article published on 08 May 2009

Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12

scientific article

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology

scientific article published on 16 June 2017

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

scientific article published in April 2009

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

scientific article published on 17 July 2013

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

scientific article published on 18 July 2021

Human NDE1 splicing and mammalian brain development.

scientific article published on 7 March 2017

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

scientific article published in May 2005

Identification of a novel vertebrate homeobox gene expressed in haematopoietic cells ⬇️

scientific article published on November 11, 1992

Immunogenic and antigenic dominance of a nonneutralizing epitope over a highly conserved neutralizing epitope in the gp41 envelope glycoprotein of human immunodeficiency virus type 1: its deletion leads to a strong neutralizing response.

scientific article published in January 2000

Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders

scientific article published on 6 February 2018

Improved reactivity of hepatitis C virus core protein epitopes in a conformational antigen-presenting system

scientific article

Improving human interferon-beta production in mammalian cell lines by insertion of an intronic sequence within its naturally uninterrupted gene.

scientific article

In vivo translational efficiency of different hepatitis C virus 5'-UTRs

scientific article published on July 1997

InTRONs in biotech

scientific article published on July 2011

Induction of murine mucosal CCR5-reactive antibodies as an anti-human immunodeficiency virus strategy

scientific article

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

scientific article

Influence of correct secondary and tertiary RNA folding on the binding of cellular factors to the HCV IRES

scientific article

Keratin14 mRNA expression in human pneumocytes during quiescence, repair and disease

scientific article

Localization of the different hepatitis C virus core gene products expressed in COS-1 cells.

scientific article published on May 1998

Low U1 snRNP dependence at the NF1 exon 29 donor splice site

scientific article published in April 2009

Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells

scientific article published on 31 May 2017

Mammalian cell expression of malaria merozoite surface proteins and experimental DNA and RNA immunisation

scientific article

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

scientific article

Microglial and Neuronal TDP-43 Pathology in Anti-IgLON5-Related Tauopathy

scientific article

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

scientific article published on 23 April 2019

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

scientific article published on 10 December 2012

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

scientific article published on August 2009

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

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles

scientific article published on 29 August 2008

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

scientific article

Molluscan sperm proteins: Ensis minor

scientific article published in March 1992

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

scientific article published on January 2008

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

scientific article

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

scientific article published in November 2009

Mutational analysis of the different bulge regions of hepatitis C virus domain II and their influence on internal ribosome entry site translational ability

scientific article published on 9 August 2001

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

scientific article

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

scientific article published on 14 July 2006

NMR assignments for the C-terminal domain of human TDP-43

scientific article published on 08 January 2021

Neurodegeneration and RNA-binding proteins

scientific article published on 22 September 2016

Neurodegeneration: The emerging non-coding connections

scientific article published on 01 September 2019

Neurons don't appreciate FUSsing in the cytoplasm

scientific article published on August 2010

Neurotoxic effects of TDP-43 overexpression in C. elegans

scientific article

Novel roles of U1 snRNP in alternative splicing regulation

scientific article published on July 2010

Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.

scientific article published on 20 December 2016

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

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

Nuclear factor TDP-43 can affect selected microRNA levels

scientific article

Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex

scientific article

PRO-MINE: A bioinformatics repository and analytical tool for TARDBP mutations.

scientific article published on January 2011

Parkinson's disease-related gene variants influence pre-mRNA splicing processes.

scientific article published on 28 July 2016

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

scientific article published on July 2008

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

scientific article

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

scientific article published on 26 March 2016

Point mutations in the N-terminal domain of transactive response DNA-binding protein 43 kDa (TDP-43) compromise its stability, dimerization, and functions.

scientific article published on 31 May 2017

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

scientific article

Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease

scientific article published on 05 May 2020

Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation

scientific article published on 24 December 2013

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

scientific article

Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

scientific article published on 5 January 2018

RNA and splicing regulation in neurodegeneration.

scientific article published in September 2013

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

RNA splicing in human disease and in the clinic

scientific article published on March 2017

RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events

scientific article

Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene

scientific article published on 12 September 2002

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

scientific article

Regulation of gene expression by TDP-43 and FUS/TLS in frontotemporal lobar degeneration

scientific article published on May 2011

Review: Molecular pathology of frontotemporal lobar degenerations

scientific article published on 01 February 2019

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

scientific article published on August 2004

Role of pseudoexons and pseudointrons in human cancer.

scientific article published on 24 September 2013

Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation.

scientific article published on 22 February 2012

SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer

scientific article published on 18 June 2007

SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution

scientific article published on 14 August 2021

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

scientific article

Sirtuin-1 sensitive lysine-136 acetylation drives phase separation and pathological aggregation of TDP-43

scientific article published on 09 March 2022

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

scientific article published in Journal of Biological Chemistry

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

scientific article published on 22 December 2010

Structural Evidence of Amyloid Fibril Formation in the Putative Aggregation Domain of TDP-43.

scientific article

Structural and biochemical characterization of an RNA/DNA binding motif in the N-terminal domain of RecQ4 helicases

scientific article published on 18 February 2016

Structural and functional characterization of the 5' region of subgenomic RNA5 of cucumber mosaic virus.

scientific article

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

scientific article published on 28 October 2008

Succession of splicing regulatory elements determines cryptic 5΄ss functionality

scientific article published on 29 December 2016

Systematic Analysis of Gene Expression Profiles Controlled by hnRNP Q and hnRNP R, Two Closely Related Human RNA Binding Proteins Implicated in mRNA Processing Mechanisms

article

TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.

scientific article published on 20 July 2010

TBPH/TDP-43 modulates translation of Drosophila futsch mRNA through an UG-rich sequence within its 5'UTR.

scientific article published on 18 February 2016

TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways

scientific article published on 10 August 2015

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins

scientific article published on 26 September 2016

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

TDP-43 and FUS in ALS/FTLD: Will common pathways fit all?

scientific article published on 28 September 2011

TDP-43 autoregulation: implications for disease

scientific article published on 18 June 2011

TDP-43 high throughput screening analyses in neurodegeneration: advantages and pitfalls

scientific article published on 14 March 2013

TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis.

scientific article published in January 2010

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

scientific article

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

scientific article published on 23 February 2022

TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain

scientific article published on 13 August 2014

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article

TDP-43 post-translational modifications in health and disease

scientific article published on 10 February 2018

TDP-43 real-time quaking induced conversion reaction optimization and detection of seeding activity in CSF of amyotrophic lateral sclerosis and frontotemporal dementia patients

scientific article published on 14 September 2020

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

scientific article

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

scientific article

TDP-43: Overview of the series

scientific article published on 06 September 2011

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

scientific article published on 24 April 2012

TDP-43: new aspects of autoregulation mechanisms in RNA binding proteins and their connection with human disease

scientific article published on 24 August 2011

Targeting RNA Binding Proteins Involved in Neurodegeneration ⬇️

scientific article published on August 16, 2013

Targeting TDP-43 in neurodegenerative diseases

scientific article published on 20 March 2014

Targeting TDP-43 proteinopathy with drugs and drug-like small molecules

scientific article published on 29 May 2020

The TDP-43 N-terminal domain structure at high resolution

scientific article

The intronic splicing code: multiple factors involved in ATM pseudoexon definition

scientific article

The minor spliceosome could be the major key for FUS/TLS mutants in ALS

scientific article published on 10 June 2016

The molecular links between TDP-43 dysfunction and neurodegeneration

scientific article published on January 2009

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

scientific article published on July 2010

The neutralizing antibody response against a conserved region of human immunodeficiency virus type 1 gp41 (amino acid residues 731-752) is uniquely directed against a conformational epitope

scientific article published in November 1998

The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors

scientific article

The role of TDP-43 in the pathogenesis of ALS and FTLD.

scientific article published on December 2013

The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function

scientific article published on January 2015

Toward a Glutamate Hypothesis of Frontotemporal Dementia

scientific article published on 29 March 2019

UG Repeats/TDP-43 Interactions near 5′ Splice Sites Exert Unpredictable Effects on Splicing Modulation

scientific article published on 09 November 2011

V3 loop core region serotyping of HIV-1 infected patients using the FHV epitope presenting system

scientific article published in January 1997

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

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