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Xavier Roca
Researcher at Nanyang Technological University
Publications - 78
Citations - 2366
Xavier Roca is an academic researcher from Nanyang Technological University. The author has contributed to research in topics: Exon & RNA splicing. The author has an hindex of 22, co-authored 73 publications receiving 2095 citations. Previous affiliations of Xavier Roca include Autonomous University of Barcelona & Cold Spring Harbor Laboratory.
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Journal ArticleDOI
Comprehensive splice-site analysis using comparative genomics
Nihar U. Sheth,Xavier Roca,Michelle L. Hastings,Ted Roeder,Adrian R. Krainer,Ravi Sachidanandam +5 more
TL;DR: This study proves that the identification of broad patterns in naturally-occurring splice sites, through the analysis of genomic datasets, provides mechanistic and evolutionary insights into pre-mRNA splicing.
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A dysfunctional desmin mutation in a patient with severe generalized myopathy
Ana M. Muñoz-Mármol,Geraldine Strasser,Marcos Isamat,Pierre A. Coulombe,Yanmin Yang,Xavier Roca,Elena Vela,Jose Luis Mate,Jaume Coll,María Teresa Fernández-Figueras,José J. Navas-Palacios,Aurelio Ariza,Elaine Fuchs +12 more
TL;DR: It is shown that recombinant desmin harboring a deletion within the coiled-coil segment of the protein cannot form proper desmin intermediate filament networks in cultured cells, nor is it able to assemble into 10-nm filaments in vitro.
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Pick one, but be quick: 5′ splice sites and the problems of too many choices
TL;DR: The history of research on 5' Splice sites selection is reviewed, highlighting the difficulties of establishing how base-pairing strength determines splicing outcomes and proposed that protein complexes propagate along the exon, thereby changing its physical behavior so as to affect 5'ss selection.
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Intrinsic differences between authentic and cryptic 5′ splice sites
TL;DR: It is found that the sequences of the beta-globin authentic and cryptic 5' splice sites, but not their surrounding context, determine the correct 5'ss choice, although their respective scores do not reflect this functional difference.
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Determinants of the inherent strength of human 5′ splice sites
TL;DR: The results indicate that extensive complementarity to U1 snRNA exerts a dominant effect for 5's selection, but in the case of competing 5'ss with similarly modest complementarityto U1, the role of other 5'sS features is more prominent.