E. Buratti

发表

RNA splicing in human disease and in the clinic.

D. Baralle, E. Buratti, 2017, Clinical science.

Exon skipping mutations in neurofibromatosis.

D. Baralle, E. Buratti, 2012, Methods in molecular biology.

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

E. Buratti, M. Baralle, F. Baralle, 2006, Nucleic acids research.

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

D. Baralle, E. Buratti, M. Baralle, 2004, Nucleic acids research.

Influence of RNA Secondary Structure on the Pre-mRNA Splicing Process

E. Buratti, F. Baralle, 2004, Molecular and Cellular Biology.

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

E. Buratti, F. Baralle, M. Romano, 1999, Human molecular genetics.

Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator ofCFTR Exon 9*

Francisco E. Baralle, E. Buratti, F. Baralle, 2001, The Journal of Biological Chemistry.

Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9*

E. Buratti, F. Baralle, F. Pagani, 2003, Journal of Biological Chemistry.

Role of Pseudoexons and Pseudointrons in Human Cancer

D. Baralle, E. Buratti, M. Romano, 2013, International journal of cell biology.

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

E. Buratti, F. Baralle, M. Lewandowska, 2007, Nucleic acids research.

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

R. Lührmann, E. Buratti, F. Baralle, 2010, The EMBO journal.

Exon and intron definition in pre‐mRNA splicing

E. Buratti, M. Baralle, L. De Conti, 2013, Wiley interdisciplinary reviews. RNA.

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.

E. Buratti, S. Spena, M. Tenchini, 2006, RNA.

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

Petr Divina, Igor Vorechovsky, P. Divina, 2009, European Journal of Human Genetics.

Regulation of Fibronectin EDA Exon Alternative Splicing: Possible Role of RNA Secondary Structure for Enhancer Display

Francisco E. Baralle, Massimo Caputi, E. Buratti, 1999, Molecular and Cellular Biology.

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

B. Bembi, E. Buratti, Elisa Goina, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

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

E. Buratti, C. Gloeckner, M. Neumann, 2022, Nature Communications.

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

E. Buratti, C. Gloeckner, R. Feederle, 2020, Nature Communications.

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

Y. Hayashi, I. Nishino, A. Pichiecchio, 2018, European journal of neurology.

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.

L. Petrucelli, D. Dickson, E. Buratti, 2016, Human molecular genetics.

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

D. Laurents, E. Buratti, M. Baralle, 2016, Front. Mol. Neurosci..

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

E. Buratti, A. Ratti, Emanuele Buratti, 2016, Journal of neurochemistry.

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

E. Buratti, F. Baralle, A. Ratti, 2015, Biochimica et biophysica acta.

Targeting RNA Binding Proteins Involved in Neurodegeneration

E. Buratti, M. Romano, 2013, Journal of biomolecular screening.

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

Marco Baralle, E. Buratti, M. Baralle, 2013, Briefings in functional genomics.

Cellular Model of TAR DNA-binding Protein 43 (TDP-43) Aggregation Based on Its C-terminal Gln/Asn-rich Region*

E. Buratti, F. Baralle, L. De Conti, 2012, The Journal of Biological Chemistry.

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

E. Buratti, F. Baralle, S. Avendaño-Vázquez, 2012, Brain Research.

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*

Vincenzo Silani, A. Pizzuti, E. Buratti, 2012, The Journal of Biological Chemistry.

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

E. Buratti, F. Baralle, Francisco E Baralle, 2008, Frontiers in bioscience : a journal and virtual library.

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

Jernej Ule, Andrea D'Ambrogio, Marco Baralle, 2011, The EMBO journal.

Progranulin Mediates Caspase-Dependent Cleavage of TAR DNA Binding Protein-43

L. Petrucelli, D. Dickson, E. Buratti, 2007, The Journal of Neuroscience.

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

T. Beach, H. Akiyama, M. Hasegawa, 2008, FEBS letters.

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

L. Petrucelli, D. Dickson, C. Link, 2009, Proceedings of the National Academy of Sciences.

RNA Folding Affects the Recruitment of SR Proteins by Mouse and Human Polypurinic Enhancer Elements in the Fibronectin EDA Exon

E. Buratti, F. Baralle, A. Iaconcig, 2004, Molecular and Cellular Biology.

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

J. Královičová, I. Vořechovský, E. Buratti, 2014, Nucleic acids research.

Parkin beyond Parkinson’s Disease—A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

E. Buratti, E. Sitek, K. Gaweda-Walerych, 2021, Cells.

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

M. Luca, B. Borroni, A. Padovani, 2017, Scientific Reports.

From basic research to the clinic: innovative therapies for ALS and FTD in the pipeline

N. Cairns, E. Buratti, M. Romano, 2020, Molecular Neurodegeneration.

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

B. Ghetti, K. Newell, B. Bembi, 2016, Acta neuropathologica communications.

Functional Significance of TDP-43 Mutations in Disease.

E. Buratti, 2015, Advances in genetics.

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

C. Angelini, E. Buratti, F. Baralle, 2010, Amyotrophic Lateral Sclerosis.

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

G. Comi, B. Borroni, A. Padovani, 2010, Rejuvenation research.

Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease

M. Luca, B. Borroni, A. Padovani, 2009, Human mutation.

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

E. Buratti, Elisa Goina, E. Velasco, 2019, The Journal of pathology.

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

M. Giacca, E. Buratti, M. Romano, 2020, Molecular therapy. Methods & clinical development.

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

E. Buratti, Markus Weber, C. Fallini, 2009, Journal of neurochemistry.

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

E. Buratti, A. Dardis, 2018, Genes.

In vivo translational efficiency of different hepatitis C virus 5′‐UTRs

A. Alberti, P. Pontisso, E. Buratti, 1997, FEBS letters.

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

R. Parenti, R. Zorec, E. Buratti, 2021, Cell Death & Disease.

Phosphorylated TDP-43 in frontotemporal lobar degeneration and ALS

M. Morita, T. Beach, H. Akiyama, 2009 .

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

E. Buratti, C. Żekanowski, F. Mohagheghi, 2016, Neurobiology of Aging.

Somatic TARDBP variants as a cause of semantic dementia

A. Uitterlinden, J. V. van Meurs, A. Smit, 2020, Brain : a journal of neurology.

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

D. Baralle, M. Raponi, J. Blaydes, 2017, International journal of cancer.

TDP-43 Regulates Drosophila Neuromuscular Junctions Growth by Modulating Futsch/MAP1B Levels and Synaptic Microtubules Organization

E. Buratti, F. Baralle, M. Romano, 2011, PloS one.

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

L. Petrucelli, D. Dickson, J. Gass, 2012, Proceedings of the National Academy of Sciences.

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

A. Rustighi, E. Buratti, A. Pinto, 1995, Blood.

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

E. Buratti, G. Manfioletti, G. Goodwin, 1992, Nucleic acids research.

Unraveling the toxic effects mediated by the neurodegenerative disease–associated S375G mutation of TDP-43 and its S375E phosphomimetic variant

D. Laurents, E. Buratti, M. Romano, 2022, The Journal of biological chemistry.

Drosophila Answers to TDP-43 Proteinopathies

E. Buratti, M. Romano, F. Feiguin, 2012, Journal of amino acids.

Novel roles of U1 snRNP in alternative splicing regulation

D. Baralle, E. Buratti, 2010, RNA biology.

Small Nuclear RNA

E. Buratti, 2020, Definitions.

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

T. Dörk, E. Buratti, F. Baralle, 2001, The EMBO journal.

Distinguishing post‐translational modifications in dominantly inherited frontotemporal dementias: FTLD‐TDP Type A (GRN) vs Type B (C9orf72)

B. Ghetti, K. Newell, E. Buratti, 2022, Neuropathology and applied neurobiology.

The Cellular Prion Protein Increases the Uptake and Toxicity of TDP-43 Fibrils

G. Legname, E. Buratti, C. Scialò, 2021, Viruses.

SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution

E. Buratti, A. Ratti, V. Silani, 2021, Molecular Neurobiology.

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

E. Buratti, F. Baralle, Valentina Romano, 2015, Prion.

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

H. Akiyama, M. Hasegawa, E. Buratti, 2009, FEBS letters.

Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator of CFTR Exon 9*

E. Buratti, F. Baralle, 2001 .

Review: Molecular pathology of frontotemporal lobar degenerations

B. Borroni, E. Buratti, A. Alberici, 2019, Neuropathology and applied neurobiology.

RNA and splicing regulation in neurodegeneration

E. Buratti, F. Baralle, 2013, Molecular and Cellular Neuroscience.

Neurons don't appreciate FUSsing in the cytoplasm

E. Buratti, F. Baralle, 2010, The EMBO journal.

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

E. Buratti, F. Baralle, M. Budini, 2014, Human molecular genetics.

TDP-43 and FUS in ALS/FTLD

E. Buratti, 2011, Neurology.

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

I. Mackenzie, E. Buratti, M. Neumann, 2020, Acta Neuropathologica.

Small Cytoplasmic Ribonucleoproteins

E. Buratti, M. Romano, 2013 .

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

P. Verstreken, E. Buratti, F. Baralle, 2014, Neurobiology of Disease.

Nuclear factor TDP‐43 can affect selected microRNA levels

E. Buratti, M. Baralle, F. Baralle, 2010, The FEBS journal.

Optineurin Deficiency and Insufficiency Lead to Higher Microglial TDP-43 Protein Levels

E. Buratti, C. Stuani, I. Munitic, 2022, International journal of molecular sciences.

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

B. Bembi, E. Buratti, M. Filocamo, 2006, Human mutation.

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

B. Bembi, E. Buratti, M. Baralle, 2006, Human mutation.

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

E. Buratti, V. Venturi, M. Ševo, 2004, Journal of Bacteriology.

NOS1AP is a novel molecular target and critical factor in TDP-43 pathology

E. Buratti, M. Romano, H. Phatnani, 2022, Brain communications.

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

E. Buratti, F. Baralle, M. Di Michele, 1997, Clinical and diagnostic laboratory immunology.

Cerebrospinal fluid from frontotemporal dementia patients is toxic to neurons.

B. Borroni, E. Buratti, A. Alberici, 2021, Biochimica et biophysica acta. Molecular basis of disease.

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

E. Buratti, F. Baralle, R. Ramasamy, 1999, Biochimica et biophysica acta.

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

B. Bembi, E. Buratti, F. Baralle, 2013, Nucleic acids research.

Induction of Murine Mucosal CCR5-Reactive Antibodies as an Anti-Human Immunodeficiency Virus Strategy

L. Lopalco, A. Lazzarin, R. Longhi, 2005, Journal of Virology.

From basic research to the clinic: innovative therapies for ALS and FTD in the pipeline

N. Cairns, E. Buratti, M. Romano, 2020, Molecular Neurodegeneration.

Reviewing the Potential Links between Viral Infections and TDP-43 Proteinopathies

E. Buratti, S. Cappelli, Zerina Rahic, 2023, International journal of molecular sciences.

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

P. Manganotti, A. Chiò, A. Calvo, 2020, Brain communications.

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.

E. Buratti, F. Baralle, N. Dimmock, 2000, Virology.

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

E. Buratti, A. Dardis, F. Paron, 2020, Journal of biotechnology.

Characterizing TDP-43 interaction with its RNA targets

M. Myers, E. Buratti, F. Baralle, 2013, Nucleic acids research.

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

N. Proudfoot, E. Buratti, F. Baralle, 2012, Genes & development.

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

E. Buratti, F. Baralle, 2011, The FEBS journal.

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

A. Balmain, A. Fusco, E. Buratti, 1989, Experimental cell research.

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

C. Ghigna, G. Biamonti, E. Buratti, 2010, The Journal of cell biology.

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

E. Buratti, F. Baralle, 2010, RNA biology.

Succession of splicing regulatory elements determines cryptic 5΄ss functionality

E. Buratti, K. Stühler, G. Poschmann, 2016, Nucleic acids research.

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

C. Ghigna, G. Biamonti, E. Buratti, 2013, Nucleic acids research.

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

E. Morselli, A. Criollo, E. Buratti, 2017, Front. Mol. Neurosci..

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

D. Baralle, E. Buratti, M. Baralle, 2006, FEBS letters.

cDNA cloning of the HMGI-C phosphoprotein, a nuclear protein associated with neoplastic and undifferentiated phenotypes.

P. Cary, E. Buratti, P. Sautière, 1991, Nucleic acids research.

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.

A. Fusco, R. Marzari, E. Buratti, 1991, European journal of biochemistry.

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

Marco Baralle, E. Buratti, M. Baralle, 2008, FEBS letters.

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

E. Buratti, M. Baralle, F. Baralle, 2013, Biochemical Society transactions.

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

E. Buratti, F. Baralle, M. Romano, 2013, Molecular and Cellular Neuroscience.

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.

E. Buratti, F. Baralle, F. Pagani, 2004, American journal of human genetics.

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

Anna L. Brown, G. Meola, E. Buratti, 2021, Communications Biology.

Neurotoxic effects of TDP-43 overexpression in C. elegans.

H. Hutter, L. Petrucelli, C. Link, 2010, Human molecular genetics.

Trends in Understanding the Pathological Roles of TDP-43 and FUS Proteins.

E. Buratti, 2021, Advances in experimental medicine and biology.

Targeting TDP-43 in neurodegenerative diseases

E. Buratti, F. Baralle, M. Budini, 2014, Expert opinion on therapeutic targets.

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

E. Buratti, F. Baralle, 2012, Trends in biochemical sciences.

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Xun Hu, Kelly L. Williams, Christopher E. Shaw, 2008, Science.

TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal Tail

E. Buratti, F. Baralle, Y. Ayala, 2005, Journal of Biological Chemistry.

Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools

Ladislav Dušek, Francisco E. Baralle, L. Dušek, 2014, PloS one.

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

E. Buratti, F. Baralle, C. Stuani, 2011, Journal of molecular biology.

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

Anna L. Brown, T. Raj, E. Buratti, 2021, Acta Neuropathologica.

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

E. Buratti, F. Baralle, C. Stuani, 2007, Nucleic acids research.

TDP-43 Proteinopathy Specific Biomarker Development

E. Buratti, M. Polymenidou, P. Lingor, 2023, Cells.

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

E. Buratti, M. Romano, S. Cappelli, 2018, Front. Mol. Biosci..

The molecular links between TDP-43 dysfunction and neurodegeneration.

E. Buratti, F. Baralle, 2009, Advances in genetics.

InTRONs in Biotech

E. Buratti, M. Baralle, N. Skoko, 2011, Molecular biotechnology.

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

Anna L. Brown, J. Ule, O. Rozenblatt-Rosen, 2022, Nature.

Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalization

Anna L. Brown, J. Ule, T. Raj, 2021, bioRxiv.

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

Eric T. Wang, Nicolas L. Fawzi, E. Wang, 2018, The EMBO journal.

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

E. Buratti, M. Romano, C. Stuani, 2017, Nucleic acids research.

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

E. Buratti, M. Baralle, B. Rogelj, 2016, Scientific Reports.

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

E. Buratti, M. Romano, F. Feiguin, 2016, Brain Research.

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

E. Buratti, M. Baralle, L. De Conti, 2015, Nucleic acids research.

Evolutionarily Conserved Heterogeneous Nuclear Ribonucleoprotein (hnRNP) A/B Proteins Functionally Interact with Human and Drosophila TAR DNA-binding Protein 43 (TDP-43)*

E. Buratti, F. Baralle, M. Romano, 2014, The Journal of Biological Chemistry.

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

J. Ule, F. Damberger, E. Buratti, 2013, Nature Structural &Molecular Biology.

UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation.

E. Buratti, M. Baralle, L. De Conti, 2012, Journal of molecular biology.

TDP-43 Autoregulation: Implications for Disease

E. Buratti, M. Budini, 2011, Journal of Molecular Neuroscience.

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

D. Baralle, M. Raponi, E. Buratti, 2009, The FEBS journal.

A new type of mutation causes a splicing defect in ATM

T. Dörk, R. Bendix, E. Buratti, 2002, Nature Genetics.

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

E. Buratti, M. Baralle, L. De Conti, 2012, RNA biology.

Splicing in the RNA World

E. Buratti, F. Baralle, M. Romano, 2012 .

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

E. Buratti, A. Dhir, 2010, The FEBS journal.

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

E. Buratti, F. Baralle, M. Romano, 2000, The Journal of Biological Chemistry.

Neurodegeneration and RNA‐binding proteins

E. Buratti, M. Baralle, L. De Conti, 2017, Wiley interdisciplinary reviews. RNA.

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

Adrian R. Krainer, Martin Chivers, Marco Baralle, 2007, Nucleic acids research.

mutation pattern, nucleotide structure and comparison of computational tools that predict

A. Krainer, E. Buratti, M. Baralle, 2007 .

An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing*

E. Buratti, F. Baralle, F. Pagani, 2004, Journal of Biological Chemistry.

Exon Enhancer Elements in the Fibronectin EDA Proteins by Mouse and Human Polypurinic RNA Folding Affects the Recruitment of SR

E. Buratti, F. Baralle, A. Iaconcig, 2004 .

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

E. Buratti, L. Grodecká, T. Freiberger, 2017, International journal of molecular sciences.

Splicing and Disease

E. Buratti, F. Baralle, 2012 .

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

E. Buratti, F. Baralle, M. Romano, 2005, Nucleic acids research.

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

Emanuele Buratti, Sergio Tisminetzky, Michela Zotti, 1998, Nucleic Acids Res..

Phosphorylated TDP‐43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

M. Morita, H. Akiyama, F. Kametani, 2008, Annals of neurology.

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

B. Bembi, E. Buratti, M. G. Pittis, 2011, European Journal of Human Genetics.

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

E. Buratti, Elisa Goina, A. Dardis, 2019, Human mutation.

Missed threads

D. Baralle, E. Buratti, A. Lucassen, 2009, EMBO reports.

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

D. Baralle, Christopher W. J. Smith, M. Llorian, 2008, The FEBS journal.

Another step forward for SELEXive splicing.

E. Buratti, F. Baralle, 2005, Trends in molecular medicine.

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

E. Buratti, 2016, EMBO Journal.

BRCA1 exon 11 a model of long exon splicing regulation

D. Baralle, M. Raponi, E. Buratti, 2014, RNA biology.

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

E. Buratti, F. Baralle, F. Pagani, 2003, Trends in molecular medicine.

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

Emanuele Buratti, Martin Chivers, Igor Vorechovsky, 2010, Nucleic Acids Res..

DBASS3 and DBASS5: databases of aberrant 3 0 - and 5 0 -splice sites

I. Vořechovský, E. Buratti, M. Chivers, 2010 .

1 Splicing in the RNA World

E. Buratti, M. Romano, 2011 .

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

S. Pantano, A. D’Ambrogio, E. Buratti, 2005, Journal of molecular biology.

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

S. Seneca, E. Buratti, W. Lissens, 2017, Journal of Molecular Medicine.

Baralle the Pre-mRNA Splicing Process Influence of RNA Secondary Structure on

E. Buratti, F. Baralle, 2004 .

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript

V. Rimoldi, E. Buratti, C. Stuani, 2013, PloS one.

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

K. Vlahovicek, B. Bembi, E. Buratti, 2009, neurogenetics.

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

E. Buratti, F. Baralle, S. Tisminetzky, 1996, Journal of immunological methods.

Identification of Proteins Bound to RNA

E. Buratti, 2012 .

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

E. Buratti, F. Baralle, A. Haque, 2009, Nucleic acids research.

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

E. Buratti, F. Baralle, M. Budini, 2011, Current Alzheimer research.

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

A. D’Ambrogio, E. Buratti, F. Baralle, 2009, Nucleic acids research.

TDP-43 post-translational modifications in health and disease

E. Buratti, 2018, Expert opinion on therapeutic targets.

Toward a Glutamate Hypothesis of Frontotemporal Dementia

B. Borroni, A. Padovani, M. di Luca, 2019, Front. Neurosci..

State-of-the-Art Methods and Emerging Fluid Biomarkers in the Diagnostics of Dementia—A Short Review and Diagnostic Algorithm

B. Borroni, E. Buratti, A. Remes, 2021, Diagnostics.

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

B. Borroni, A. Padovani, M. di Luca, 2017, Scientific Reports.

Regulation of 3′ Splice Site Selection in the 844ins68 Polymorphism of the Cystathionine β-Synthase Gene*

E. Buratti, F. Baralle, M. Romano, 2002, The Journal of Biological Chemistry.

The Secondary Structure of the Human Immunodeficiency Virus Type 1 Transcript Modulates Viral Splicing and Infectivity

E. Buratti, C. Stuani, M. Caputi, 2008, Journal of Virology.

Human NDE1 splicing and mammalian brain development

D. Baralle, C. Woods, M. Raponi, 2017, Scientific Reports.

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

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2016, The FEBS journal.

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

E. Buratti, 2020, British journal of pharmacology.

Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study

M. Freedman, J. Dukart, R. Keren, 2023, Neurobiology of Disease.

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)

M. Claustres, E. Buratti, A. Harris, 2005, Human mutation.

THEME 2 GENETICS AND GENOMICS GEN-01 Genetic analysis using a gene panel in a cohort of 282 Spanish patients with ALS

J. Ule, T. Raj, J. Newcombe, 2022 .

Phe-Gly motifs drive fibrillization of TDP-43’s prion-like domain condensates

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2021, PLoS biology.

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

Andrea D'Ambrogio, Leonard Petrucelli, L. Petrucelli, 2008, Journal of Cell Science.

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

Gary L. Pattee, D. Laurents, B. Ghetti, 2019, Brain pathology.

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

E. Buratti, L. De Conti, C. Stuani, 2021, EClinicalMedicine.

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

E. Buratti, M. Tepfer, Mélissanne de Wispelaere, 2008, The Journal of general virology.

Structural and functional characterization of the 5 9 region of subgenomic RNA 5 of cucumber mosaic virus

E. Buratti, M. Tepfer, J. Thompson, 2008 .

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

B. Castellotti, C. Gellera, E. Buratti, 2009, Human mutation.

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

D. Laurents, T. Tran, L. Tong, 2015, The journal of physical chemistry letters.

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

E. Buratti, A. Bhardwaj, G. Musco, 2016, Scientific Reports.

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency

D. Walerych, E. Buratti, C. Żekanowski, 2021, Frontiers in Molecular Neuroscience.

OP-BRCM200142 1..14

P. Manganotti, A. Chiò, A. Calvo, 2020 .

PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations

K. Vlahovicek, E. Buratti, Sofia Pinto, 2011, Human mutation.

“Deciphering the amyloid foldome of TDP-43”

D. Laurents, E. Buratti, M. Mompeán, 2019, bioRxiv.

Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder

F. Agosta, G. Apic, J. Julien, 2023, Biomedicines.

Improving human interferon‐β production in mammalian cell lines by insertion of an intronic sequence within its naturally uninterrupted gene

E. Buratti, M. Baralle, Y. Ayala, 2009, Biotechnology and applied biochemistry.

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

M. Chilosi, E. Buratti, M. Romano, 2017, PloS one.

Molluscan sperm proteins: Ensis minor.

E. Buratti, V. Giancotti, C. Crane-Robinson, 1992, Biochimica et biophysica acta.

Mutational Analysis of the Different Bulge Regions of Hepatitis C Virus Domain II and Their Influence on Internal Ribosome Entry Site Translational Ability*

E. Buratti, F. Baralle, F. Odreman-Macchioli, 2001, The Journal of Biological Chemistry.

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

E. Buratti, F. Baralle, P. D’Agaro, 1997, Journal of virology.

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.

E. Buratti, F. Baralle, N. Dimmock, 1998, The Journal of general virology.

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

D. Laurents, E. Buratti, F. Baralle, 2014, Archives of biochemistry and biophysics.

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

E. Stickeler, M. Hirschfeld, E. Buratti, 2011, Human molecular genetics.

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

L. Corcos, C. Férec, E. Buratti, 2010, Nucleic acids research.

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

E. Buratti, F. Baralle, S. Tisminetzky, 2000, Nucleic acids research.

Phe-Gly motifs drive fibrillization of TDP-43’s prion-like domain droplets

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2020, bioRxiv.

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

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2017, The Journal of Biological Chemistry.

Point mutations in transactive response DNA-binding protein 43 ( TDP-43 ) ’ s N-terminal domain compromise its stability , dimerization and functions

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2017 .

Electrostatic Repulsion Governs TDP-43 C-terminal Domain Aggregation

D. Laurents, E. Buratti, A. Chakrabartty, 2016, PLoS biology.

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

E. Buratti, M. Baralle, F. Baralle, 2013, Nucleic acids research.

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

E. Buratti, F. Baralle, P. D’Agaro, 1997, Journal of virological methods.

Aromatic and aliphatic residues of the disordered region of TDP-43 are on a fast track for self-assembly.

D. Laurents, D. Pantoja-Uceda, E. Buratti, 2021, Biochemical and biophysical research communications.

E. Buratti, M. Baralle, F. Baralle, 2015, Neuroscience.

Theme 08 - Clinical Imaging and Electrophysiology

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

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

A. Cagnin, E. Buratti, G. Zanusso, 2017, Journal of Alzheimer's disease : JAD.

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

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2021, Biomolecular NMR Assignments.

HMG chromosomal proteins in transformed cells

E. Buratti, G. Manfioletti, G. Goodwin, 1991 .

Circulating Plasma MicroRNAs As Diagnostic Markers for NSCLC

E. Buratti, W. Cho, L. Chan, 2016, Front. Genet..

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

E. Buratti, S. Zanlungo, A. Dardis, 2023, NPJ genomic medicine.

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

D. Laurents, A. McDermott, D. Pantoja-Uceda, 2021, Biomolecular NMR Assignments.

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

Ramasamy, Buratti, Baralle, 1999, Parasite immunology.

hnRNP A1 induces aberrant CFTR exon 9 splicing via a newly discovered Exonic Splicing Silencer element

E. Buratti, C. Stuani, M. Chou, 2023, bioRxiv.

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

C. Ghigna, G. Biamonti, E. Buratti, 2010, The Journal of cell biology.

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

I. Mackenzie, E. Buratti, M. Neumann, 2020, Acta Neuropathologica.

TDP-43 Epigenetic Facets and Their Neurodegenerative Implications

V. Orlando, E. Buratti, J. Gimenez, 2023, International journal of molecular sciences.

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

L. Petrucelli, D. Dickson, C. Link, 2009, Proceedings of the National Academy of Sciences.

Overlapping Neuroimmune Mechanisms and Therapeutic Targets in Neurodegenerative Disorders

E. Buratti, I. Jurak, F. De Marchi, 2023, Biomedicines.

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

B. Ghetti, B. Bembi, E. Buratti, 2016, Acta Neuropathologica Communications.

RNA Folding Affects the Recruitment of SR Proteins by Mouse and Human Polypurinic Enhancer Elements in the Fibronectin EDA Exon

E. Buratti, F. Baralle, A. Iaconcig, 2004, Molecular and Cellular Biology.

Theme 02 - GENETICS AND GENOMICS

J. Ule, T. Raj, J. Newcombe, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Mitigation of TDP-43-induced toxic phenotype by expression of RGNEF N-terminal fragment in ALS models

E. Buratti, C. Droppelmann, D. Campos-Melo, 2023, bioRxiv.

Sirtuin-1 Sensitive Lysine-136 Acetylation Drives Phase Separation and Pathological Aggregation of TDP-43

Gloeckner, E. Buratti, C. Gloeckner, 2020, bioRxiv.

Detection of TDP‐43 seeding activity in the olfactory mucosa from patients with frontotemporal dementia

B. Ghetti, B. Borroni, A. Cagnin, 2023, Alzheimer's & Dementia.