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Lista de obras de Emanuele Buratti

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

artículo científico

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).

artículo científico publicado en 2005

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

artículo científico publicado en 1997

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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 1989

Another step forward for SELEXive splicing.

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 1999

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

BRCA1 exon 11 a model of long exon splicing regulation

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2022

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 1991

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado el 6 de octubre de 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2021

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

artículo científico publicado en 1995

Drosophila Answers to TDP-43 Proteinopathies

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Editorial: Role of RNA Modification in Disease

scientific article published on 23 October 2019

Electrostatic Repulsion Governs TDP-43 C-terminal Domain Aggregation

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Exon and intron definition in pre-mRNA splicing

artículo científico

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

artículo científico publicado en 2014

Exon skipping mutations in neurofibromatosis

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Florbetapir F 18 for brain imaging of β-amyloid plaques

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Functional Significance of TDP-43 Mutations in Disease

artículo científico

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

artículo científico publicado en 1999

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

artículo científico publicado en 1998

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2021

Human NDE1 splicing and mammalian brain development.

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado el 11 de noviembre de 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.

artículo científico publicado en 2000

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

artículo científico publicado en 2018

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

artículo científico publicado en 1997

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

artículo científico publicado en 2009

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

artículo científico publicado en 1997

InTRONs in biotech

scientific article published on July 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2017

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

artículo científico publicado en 1998

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 1999

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Molluscan sperm proteins: Ensis minor

artículo científico publicado en 1992

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2001

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2021

Neurodegeneration and RNA-binding proteins

artículo científico publicado en 2016

Neurodegeneration: The emerging non-coding connections

artículo científico publicado en 2019

Neurons don't appreciate FUSsing in the cytoplasm

artículo científico publicado en 2010

Neurotoxic effects of TDP-43 overexpression in C. elegans

artículo científico publicado en 2010

Novel roles of U1 snRNP in alternative splicing regulation

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2001

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

artículo científico publicado en 2004

Nuclear factor TDP-43 can affect selected microRNA levels

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

RNA and splicing regulation in neurodegeneration.

artículo científico publicado en 2013

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

artículo científico publicado en 2004

RNA splicing in human disease and in the clinic

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 2004

Role of pseudoexons and pseudointrons in human cancer.

artículo científico

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

artículo científico publicado en 2012

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

artículo científico

SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution

artículo científico publicado en 2021

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

artículo científico publicado en 2010

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

artículo científico publicado en 2022

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

artículo científico publicado en 2000

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Succession of splicing regulatory elements determines cryptic 5΄ss functionality

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2008

TDP-43 post-translational modifications in health and disease

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

TDP-43: Overview of the series

artículo científico publicado en 2011

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

artículo científico

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

artículo científico publicado en 2011

Targeting TDP-43 in neurodegenerative diseases

artículo científico

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

The molecular links between TDP-43 dysfunction and neurodegeneration

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 2008

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

artículo científico

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

artículo científico publicado en 2015

Toward a Glutamate Hypothesis of Frontotemporal Dementia

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2004

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