Works matching AU Baralle, Francisco E

Results: 62

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

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 12, p. 1443, doi. 10.1038/nsmb.2698

By:

Lukavsky, Peter J;
Daujotyte, Dalia;
Tollervey, James R;
Ule, Jernej;
Stuani, Cristiana;
Buratti, Emanuele;
Baralle, Francisco E;
Damberger, Fred F;
Allain, Frédéric H-T

Publication type:

Article

Genetic characterization of myeloperoxidase deficiency in Italy.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 496, doi. 10.1002/humu.20027

By:

Marchetti, Caterina;
Patriarca, Pierluigi;
Solero, G. Pietro;
Baralle, Francisco E.;
Romano, Maurizio

Publication type:

Article

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

Published in:

Nature Genetics, 2002, v. 30, n. 4, p. 426, doi. 10.1038/ng858

By:

Pagani, Franco;
Buratti, Emanuele;
Stuani, Cristiana;
Bendix, Regina;
Dörk, Thilo;
Baralle, Francisco E.

Publication type:

Article

THE STRUCTURAL ANALYSIS OF THE HUMAN EPSILON-GLOBIN GENE AND ITS PRODUCT.

Published in:

Annals of the New York Academy of Sciences, 1980, v. 344, n. 1, p. 76, doi. 10.1111/j.1749-6632.1980.tb33651.x

By:

Baralle, Francisco E.;
Proudfoot, Nicholas J.;
Clegg, John B.

Publication type:

Article

Exon First Nucleotide Mutations in Splicing: Evaluation of <i>In Silico</i> Prediction Tools.

Published in:

PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089570

By:

Grodecká, Lucie;
Lockerová, Pavla;
Ravčuková, Barbora;
Buratti, Emanuele;
Baralle, Francisco E.;
Dušek, Ladislav;
Freiberger, Tomáš

Publication type:

Article

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

Published in:

PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017808

By:

Godena, Vinay K.;
Romano, Giulia;
Romano, Maurizio;
Appocher, Chiara;
Klima, Raffaella;
Buratti, Emanuele;
Baralle, Francisco E.;
Feiguin, Fabian

Publication type:

Article

Glial TDP-43 regulates axon wrapping, GluRIIA clustering and fly motility by autonomous and non-autonomous mechanisms.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 21, p. 6134, doi. 10.1093/hmg/ddv330

By:

Romano, Giulia;
Appocher, Chiara;
Scorzeto, Michele;
Klima, Raffaella;
Baralle, Francisco E.;
Megighian, Aram;
Feiguin, Fabian

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 9, doi. 10.1093/hmg/ddu415

By:

Budini, Mauricio;
Romano, Valentina;
Quadri, Zainuddin;
Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

A novel anti-aldolase C antibody specifically interacts with residues 85-102 of the protein.

Published in:

mAbs (1942-0862), 2014, v. 6, n. 3, p. 708, doi. 10.4161/mabs.28191

By:

Langellotti, Simona;
Romano, Maurizio;
Guarnaccia, Corrado;
Granata, Vincenzo;
Orrù, Stefania;
Zagari, Adriana;
Baralle, Francisco E.;
Salvatore, Francesco

Publication type:

Article

An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 600, doi. 10.1002/ajmg.a.62530

By:

Gao, Shanshan;
Mumme‐Monheit, Abigail;
Chen, Suet Nee;
Spector, Elaine B.;
Slavov, Dobromir;
Baralle, Francisco E.;
Bristow, Michael R.;
Mestroni, Luisa;
Taylor, Matthew R. G.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2339, doi. 10.1093/hmg/8.13.2339

By:

Niksic, Martina;
Romano, Maurizio;
Buratti, Emanuele;
Pagani, Franco;
Baralle, Francisco E.

Publication type:

Article

1448C mutation linked to the Pv1. 1 genotype in Italian patients with Gaucher disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 6, p. 781

By:

Tuteja, Renu;
Bembi, Bruno;
Agosti, Eriberto;
Baralle, Francisco E.

Publication type:

Article

Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine β-synthase gene in great apes.

Published in:

FEBS Letters, 2008, v. 582, n. 3, p. 423, doi. 10.1016/j.febslet.2007.12.038

By:

Romano, Maurizio;
Bacalini, Maria Giulia;
Verschoor, Ernst J.;
Crovella, Sergio;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

FEBS Letters, 2006, v. 580, n. 18, p. 4449, doi. 10.1016/j.febslet.2006.07.018

By:

Baralle, Marco;
Skoko, Natasa;
Knezevich, Anna;
De Conti, Laura;
Motti, Dario;
Bhuvanagiri, Madhuri;
Baralle, Diana;
Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

TDP43 depletion rescues aberrant CFTR exon 9 skipping

Published in:

FEBS Letters, 2006, v. 580, n. 5, p. 1339, doi. 10.1016/j.febslet.2006.01.052

By:

Ayala, Youhna M.;
Pagani, Franco;
Baralle, Francisco E.

Publication type:

Article

The erythrocyte skeletons of β-adducin deficient mice have altered levels of tropomyosin, tropomodulin and EcapZ

Published in:

FEBS Letters, 2004, v. 576, n. 1/2, p. 36, doi. 10.1016/j.febslet.2004.08.057

By:

Porro, Fabiola;
Costessi, Luisa;
Marro, Martín L.;
Baralle, Francisco E.;
Muro, Andrés F.

Publication type:

Article

Alternative splicing and liver disease.

Published in:

Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2021, v. 26, p. 1, doi. 10.1016/j.aohep.2021.100534

By:

Baralle, Marco;
Baralle, Francisco. E.

Publication type:

Article

P1-140: Aggregation of phosphorylated and ubiquitinated TDP-43 in SH-SY5Y cells

Published in:

2008

By:

Nonaka, Takashi;
Arai, Tetsuaki;
Akiyama, Haruhiko;
Buratti, Emanuele;
Baralle, Francisco E.;
Hasegawa, Masato

Publication type:

Abstract

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders.

Published in:

Experimental & Molecular Medicine EMM, 2024, v. 56, n. 8, p. 1816, doi. 10.1038/s12276-024-01292-1

By:

Wai, Htoo A.;
Svobodova, Eliska;
Herrera, Natalia Romero;
Douglas, Andrew G. L.;
Holloway, John W.;
Baralle, Francisco E.;
Baralle, Marco;
Baralle, Diana

Publication type:

Article

Genomic variants in exons and introns: identifying the splicing spoilers.

Published in:

2004

By:

Pagani, Franco;
Baralle, Francisco E.

Publication type:

journal article

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1111, doi. 10.1093/hmg/ddg131

By:

Pagani, Franco;
Stuani, Cristiana;
Tzetis, Maria;
Kanavakis, Emmanuel;
Efthymiadou, Alexandra;
Doudounakis, Stavros;
Casals, Teresa;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Biochemical Society Transactions, 2013, v. 41, n. 6, p. 1536, doi. 10.1042/BST20130186

By:

Baralle, Marco;
Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

EMBO Journal, 2001, v. 20, n. 7, p. 1774, doi. 10.1093/emboj/20.7.1774

By:

Buratti, Emanuele;
Dörk, Thilo;
Zuccato, Elisabetta;
Pagani, Franco;
Romano, Maurizio;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

EMBO Journal, 2001, v. 20, n. 7, p. 1774, doi. 10.1093/emboj/20.7.1774

By:

Buratti, Emanuele;
Dörk, Thilo;
Zuccato, Elisabetta;
Pagani, Franco;
Romano, Maurizio;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Molecular & Cellular Biology, 2004, v. 24, n. 24, p. 10505, doi. 10.1128/MCB.24.24.10505-10514.2004

By:

Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Molecular & Cellular Biology, 2004, v. 24, n. 3, p. 1387, doi. 10.1128/MCB.24.3.1387-1400.2004

By:

Buratti, Emanuele;
Muro, Andrés F.;
Giombi, Maurizio;
Gherbassi, Daniel;
Iaconcig, Alessandra;
Baralle, Francisco E.

Publication type:

Article

Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior

Published in:

FEBS Letters, 2009, v. 583, n. 10, p. 1586, doi. 10.1016/j.febslet.2009.04.019

By:

Feiguin, Fabian;
Godena, Vinay K.;
Romano, Giulia;
D’Ambrogio, Andrea;
Klima, Raffaella;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

FEBS Letters, 2009, v. 583, n. 2, p. 394, doi. 10.1016/j.febslet.2008.12.031

By:

Nonaka, Takashi;
Arai, Tetsuaki;
Buratti, Emanuele;
Baralle, Francisco E.;
Akiyama, Haruhiko;
Hasegawa, Masato

Publication type:

Article

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

Published in:

FEBS Letters, 2008, v. 582, n. 19, p. 2899, doi. 10.1016/j.febslet.2008.07.027

By:

Inukai, Yuki;
Nonaka, Takashi;
Arai, Tetsuaki;
Yoshida, Mari;
Hashizume, Yoshio;
Beach, Thomas G.;
Buratti, Emanuele;
Baralle, Francisco E.;
Akiyama, Haruhiko;
Hisanaga, Shin-ichi;
Hasegawa, Masato

Publication type:

Article

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

Published in:

FEBS Letters, 2008, v. 582, n. 15, p. 2231, doi. 10.1016/j.febslet.2008.05.018

By:

Skoko, Natasa;
Baralle, Marco;
Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Briefings in Functional Genomics, 2013, v. 12, n. 1, p. 3, doi. 10.1093/bfgp/els048

By:

Buratti, Emanuele;
Baralle, Marco;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

RNA Biology, 2010, v. 7, n. 4, p. 420, doi. 10.4161/rna.7.4.12205

By:

Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Prion, 2015, v. 9, n. 1, p. 1, doi. 10.1080/19336896.2015.1011885

By:

Romano, Valentina;
Quadri, Zainuddin;
Baralle, Francisco E;
Buratti, Emanuele

Publication type:

Article

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

Published in:

FEBS Journal, 2016, v. 283, n. 7, p. 1242, doi. 10.1111/febs.13651

By:

Mompeán, Miguel;
Romano, Valentina;
Pantoja‐Uceda, David;
Stuani, Cristiana;
Baralle, Francisco E.;
Buratti, Emanuele;
Laurents, Douglas V.

Publication type:

Article

TDP-43: Overview of the series.

Published in:

FEBS Journal, 2011, v. 278, n. 19, p. 3529, doi. 10.1111/j.1742-4658.2011.08278.x

By:

Baralle, Francisco E.;
Buratti, Emanuele

Publication type:

Article

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

Published in:

FEBS Journal, 2011, v. 278, n. 19, p. 3530, doi. 10.1111/j.1742-4658.2011.08257.x

By:

Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

Italy leads the way in supporting African biotechnology.

Published in:

2009

By:

Baralle, Francisco E.

Publication type:

Letter

An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.

Published in:

Nature, 2007, v. 448, n. 7156, p. 934, doi. 10.1038/nature06066

By:

Giraud, Matthieu;
Taubert, Richard;
Vandiedonck, Claire;
Ke, Xiayi;
Lévi-Strauss, Matthieu;
Pagani, Franco;
Baralle, Francisco E.;
Eymard, Bruno;
Tranchant, Christine;
Gajdos, Philippe;
Vincent, Angela;
Willcox, Nick;
Beeson, David;
Kyewski, Bruno;
Garchon, Henri-Jean

Publication type:

Article

Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan.

Published in:

Journal of Cell Biology, 2003, v. 162, n. 1, p. 149, doi. 10.1083/jcb.200212079

By:

Muro, Andrés F.;
Chauhan, Anil K.;
Gajovic, Srecko;
Iaconcig, Alessandra;
Porro, Fabiola;
Stanta, Giorgio;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2004, v. 32, n. 14, p. 4224, doi. 10.1093/nar/gkh752

By:

Buratti, Emanuele;
Baralle, Marco;
De Conti, Laura;
Baralle, Diana;
Romano, Maurizio;
Ayala, Youhna M.;
Baralle, Francisco E.

Publication type:

Article

Splicing of constitutive upstream introns is essential for the recognition of intra-exonic suboptimal splice sites in the thrombopoietin gene.

Published in:

Nucleic Acids Research, 2001, v. 29, n. 4, p. 886, doi. 10.1093/nar/29.4.886

By:

Romano, Maurizio;
Marcucci, Roberto;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2014, v. 42, n. 5, p. 3362, doi. 10.1093/nar/gkt1343

By:

Bembich, Sara;
Herzog, Jeremias S.;
De Conti, Laura;
Stuani, Cristiana;
Avendaño-Vázquez, S. Eréndira;
Buratti, Emanuele;
Baralle, Marco;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2014, v. 42, n. 2, p. 1291, doi. 10.1093/nar/gkt987

By:

Dardis, Andrea;
Zanin, Irene;
Zampieri, Stefania;
Stuani, Cristiana;
Pianta, Annalisa;
Romanello, Milena;
Baralle, Francisco E.;
Bembi, Bruno;
Buratti, Emanuele

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2013, v. 41, n. 18, p. 8665, doi. 10.1093/nar/gkt579

By:

Bonomi, Serena;
di Matteo, Anna;
Buratti, Emanuele;
Cabianca, Daphne S.;
Baralle, Francisco E.;
Ghigna, Claudia;
Biamonti, Giuseppe

Publication type:

Article

Characterizing TDP-43 interaction with its RNA targets.

Published in:

Nucleic Acids Research, 2013, v. 41, n. 9, p. 5062, doi. 10.1093/nar/gkt189

By:

Bhardwaj, Amit;
Myers, Michael P.;
Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

Mutually exclusive splicing regulates the Nav 1.6 sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands.

Published in:

Nucleic Acids Research, 2012, v. 40, n. 13, p. 6255, doi. 10.1093/nar/gks249

By:

Zubović, Lorena;
Baralle, Marco;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2010, v. 38, n. 2, p. 647, doi. 10.1093/nar/gkp1040

By:

Haque, Ariful;
Buratti, Emanuele;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2009, v. 37, n. 12, p. 4116, doi. 10.1093/nar/gkp342

By:

D’Ambrogio, Andrea;
Buratti, Emanuele;
Stuani, Cristiana;
Guarnaccia, Corrado;
Romano, Maurizio;
Ayala, Youhna M.;
Baralle, Francisco E.

Publication type:

Article

Dissecting the splicing mechanism of the Drosophila editing enzyme; dADAR.

Published in:

Nucleic Acids Research, 2009, v. 37, n. 5, p. 1663, doi. 10.1093/nar/gkn1080

By:

Marcucci, Roberto;
Romano, Maurizio;
Feiguin, Fabian;
O'Connell, Mary A.;
Baralle, Francisco E.

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2007, v. 35, n. 13, p. 4369, doi. 10.1093/nar/gkm447

By:

Buratti, Emanuele;
Dhir, Ashish;
Lewandowska, Marzena A.;
Baralle, Francisco E.

Publication type:

Article