Works matching AU Stuani, Cristiana

Results: 30

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

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

Published in:

Biomolecular NMR Assignments, 2021, v. 15, n. 1, p. 177, doi. 10.1007/s12104-020-10002-7

By:

Pantoja-Uceda, David;
Stuani, Cristiana;
Laurents, Douglas V.;
McDermott, Ann E.;
Buratti, Emanuele;
Mompeán, Miguel

Publication type:

Article

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

Published in:

Brain Pathology, 2019, v. 29, n. 3, p. 397, doi. 10.1111/bpa.12680

By:

Newell, Kathy;
Paron, Francesca;
Mompean, Miguel;
Murrell, Jill;
Salis, Elisa;
Stuani, Cristiana;
Pattee, Gary;
Romano, Maurizio;
Laurents, Douglas;
Ghetti, Bernardino;
Buratti, Emanuele

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

Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.

Published in:

Molecular Medicine, 2025, v. 31, n. 1, p. 1, doi. 10.1186/s10020-025-01090-z

By:

Peruzzo, Paolo;
Bergamin, Natascha;
Bon, Martina;
Cappelli, Sara;
Longo, Alessandra;
Goina, Elisa;
Stuani, Cristiana;
Buratti, Emanuele;
Dardis, Andrea

Publication type:

Article

Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/7760556

By:

Sönmezler, Ece;
Stuani, Cristiana;
Kurul, Semra Hız;
Güngör, Serdal;
Buratti, Emanuele;
Oktay, Yavuz

Publication type:

Article

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

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059333

By:

Rimoldi, Valeria;
Soldà, Giulia;
Asselta, Rosanna;
Spena, Silvia;
Stuani, Cristiana;
Buratti, Emanuele;
Duga, Stefano

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 534, doi. 10.1093/hmg/ddv491

By:

Mohagheghi, Fatemeh;
Prudencio, Mercedes;
Stuani, Cristiana;
Cook, Casey;
Jansen-West, Karen;
Dickson, Dennis W.;
Petrucelli, Leonard;
Buratti, Emanuele

Publication type:

Article

Cross-seeding by prion protein inactivates TDP-43.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 240, doi. 10.1093/brain/awad289

By:

Polido, Stella A;
Stuani, Cristiana;
Voigt, Aaron;
Banik, Papiya;
Kamps, Janine;
Bader, Verian;
Grover, Prerna;
Krause, Laura J;
Zerr, Inga;
Matschke, Jakob;
Glatzel, Markus;
Winklhofer, Konstanze F;
Buratti, Emanuele;
Tatzelt, Jörg

Publication type:

Article

Expression of Lysosomal Acid Lipase Mutants Detected in Three Patients with Cholesteryl Ester Storage Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1611, doi. 10.1093/hmg/5.10.1611

By:

Pagani, Franco;
Garcia, Rodolfo;
Pariyarath, Rajalakshmi;
Stuani, Cristiana;
Gridelli, Bruno;
Paone, Giovanni;
BaraMe, Francisco E.

Publication type:

Article

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

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172130

By:

Confalonieri, Marco;
Buratti, Emanuele;
Grassi, Gabriele;
Bussani, Rossana;
Chilosi, Marco;
Farra, Rossella;
Abrami, Michela;
Stuani, Cristiana;
Salton, Francesco;
Ficial, Miriam;
Confalonieri, Paola;
Zandonà, Lorenzo;
Romano, Maurizio

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2011, v. 20, n. 12, p. 2356, doi. 10.1093/hmg/ddr128

By:

Hirschfeld, Marc;
Jaeger, Markus;
Buratti, Emanuele;
Stuani, Cristiana;
Grueneisen, Johannes;
Gitsch, Gerald;
Stickeler, Elmar

Publication type:

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

Author Correction: Location and function of TDP-43 in platelets, alterations in neurodegenerative diseases and arising considerations for current plasma biobank protocols.

Published in:

2024

By:

Luthi-Carter, Ruth;
Cappelli, Sara;
Le Roux-Bourdieu, Morgan;
Tentillier, Noemie;
Quinn, James P.;
Petrozziello, Tiziana;
Gopalakrishnan, Lathika;
Sethi, Purva;
Choudhary, Himanshi;
Bartolini, Giorgia;
Gebara, Elias;
Stuani, Cristiana;
Font, Laure;
An, Jiyan;
Ortega, Vanessa;
Sage, Jessica;
Kosa, Edina;
Trombetta, Bianca A.;
Simeone, Roberto;
Seredenina, Tamara

Publication type:

Correction Notice

Location and function of TDP-43 in platelets, alterations in neurodegenerative diseases and arising considerations for current plasma biobank protocols.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70822-8

By:

Luthi-Carter, Ruth;
Cappelli, Sara;
Le Roux-Bourdieu, Morgan;
Tentillier, Noemie;
Quinn, James P.;
Petrozziello, Tiziana;
Gopalakrishnan, Lathika;
Sethi, Purva;
Choudhary, Himanshi;
Bartolini, Giorgia;
Gebara, Elias;
Stuani, Cristiana;
Font, Laure;
An, Jiyan;
Ortega, Vanessa;
Sage, Jessica;
Kosa, Edina;
Trombetta, Bianca A.;
Simeone, Roberto;
Seredenina, Tamara

Publication type:

Article

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

Published in:

PLoS Biology, 2021, v. 19, n. 4, p. 1, doi. 10.1371/journal.pbio.3001198

By:

Pantoja-Uceda, David;
Stuani, Cristiana;
Laurents, Douglas V.;
McDermott, Ann E.;
Buratti, Emanuele;
Mompeán, Miguel

Publication type:

Article

BRCA1 exon 11 a model of long exon splicing regulation.

Published in:

RNA Biology, 2014, v. 11, n. 4, p. 1, doi. 10.4161/rna.28458

By:

Raponi, Michela;
Smith, Lindsay D.;
Silipo, Marco;
Stuani, Cristiana;
Buratti, Emanuele;
Baralle, Diana

Publication type:

Article

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants.

Published in:

Journal of Pathology, 2024, v. 262, n. 4, p. 395, doi. 10.1002/path.6243

By:

Sanoguera‐Miralles, Lara;
Llinares‐Burguet, Inés;
Bueno‐Martínez, Elena;
Ramadane‐Morchadi, Lobna;
Stuani, Cristiana;
Valenzuela‐Palomo, Alberto;
García‐Álvarez, Alicia;
Pérez‐Segura, Pedro;
Buratti, Emanuele;
de la Hoya, Miguel;
Velasco‐Sampedro, Eladio A

Publication type:

Article

Axon guidance genes are regulated by TDP‐43 and RGNEF through long‐intron removal.

Published in:

FASEB Journal, 2024, v. 38, n. 19, p. 1, doi. 10.1096/fj.202400743RR

By:

Abbassi, Yasmine;
Cappelli, Sara;
Spagnolo, Eugenio;
Gennari, Alice;
Visani, Giulia;
Barattucci, Simone;
Paron, Francesca;
Stuani, Cristiana;
Droppelmann, Cristian A.;
Strong, Michael J.;
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

Nuclear factor TDP-43 can affect selected microRNA levels.

Published in:

FEBS Journal, 2010, v. 277, n. 10, p. 2268, doi. 10.1111/j.1742-4658.2010.07643.x

By:

Buratti, Emanuele;
De Conti, Laura;
Stuani, Cristiana;
Romano, Maurizio;
Baralle, Marco;
Baralle, Francisco

Publication type:

Article

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

Published in:

FEBS Journal, 2008, v. 275, n. 24, p. 6101, doi. 10.1111/j.1742-4658.2008.06734.x

By:

Raponi, Michela;
Buratti, Emanuele;
Llorian, Miriam;
Stuani, Cristiana;
Smith, Christopher W. J.;
Baralle, Diana

Publication type:

Article

Assessing the Impact of Novel BRCA1 Exon 11 Variants on Pre-mRNA Splicing.

Published in:

Cells (2073-4409), 2024, v. 13, n. 10, p. 824, doi. 10.3390/cells13100824

By:

Elshwekh, Halla;
Alhudiri, Inas M.;
Elzagheid, Adam;
Enattah, Nabil;
Abbassi, Yasmine;
Abou Assali, Lubna;
Marino, Ilenia;
Stuani, Cristiana;
Buratti, Emanuele;
Romano, Maurizio

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6829, doi. 10.3390/ijms23126829

By:

Prtenjaca, Nikolina;
Rob, Matea;
Alam, Muhammad S.;
Markovinovic, Andrea;
Stuani, Cristiana;
Buratti, Emanuele;
Munitic, Ivana

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2017, v. 45, n. 13, p. 8026, doi. 10.1093/nar/gkx477

By:

Appocher, Chiara;
Mohagheghi, Fatemeh;
Cappelli, Sara;
Stuani, Cristiana;
Romano, Maurizio;
Feiguin, Fabian;
Buratti, Emanuele

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

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

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

Published in:

Nucleic Acids Research, 2007, v. 35, n. 13, p. 4359, doi. 10.1093/nar/gkm444

By:

Buratti, Emanuele;
Stuani, Cristiana;
De Prato, Greta;
Baralle, Francisco E.

Publication type:

Article

Functional studies on the ATM intronic splicing processing element.

Published in:

Nucleic Acids Research, 2005, v. 33, n. 13, p. 4007, doi. 10.1093/nar/gki710

By:

Lewandowska, Marzena A.;
Stuani, Cristiana;
Parvizpur, Alireza;
Baralle, Francisco E.;
Pagani, Franco

Publication type:

Article