Francisco Baralle

Affiliations: 
University of Oxford, Oxford, United Kingdom 
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"Francisco Baralle"
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Fratta P, Sivakumar P, Humphrey J, et al. (2018) Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. The Embo Journal
Esposito MV, Nunziato M, Starnone F, et al. (2016) A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA. International Journal of Molecular Sciences. 17
Romano M, Buratti E, Romano G, et al. (2014) Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43). The Journal of Biological Chemistry. 289: 7121-30
De Oliveira H, Ricketts T, Fisher E, et al. (2013) A missense mutation in the mouse TDP-43 gene leads to a gain of TDP-43 mediated splicing function: Implications for neurodegeneration Journal of the Neurological Sciences. 333: e438-e439
Becker K, Braune M, Benderska N, et al. (2012) A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion. The Journal of Biological Chemistry. 287: 31185-94
Zago P, Buratti E, Stuani C, et al. (2011) Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon. Journal of Molecular Biology. 411: 1-15
Zhang YJ, Xu YF, Cook C, et al. (2009) Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proceedings of the National Academy of Sciences of the United States of America. 106: 7607-12
Buratti E, Baralle FE. (2008) Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Frontiers in Bioscience : a Journal and Virtual Library. 13: 867-78
Zhang YJ, Xu YF, Dickey CA, et al. (2007) Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 10530-4
Buratti E, Stuani C, De Prato G, et al. (2007) SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer. Nucleic Acids Research. 35: 4359-68
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