Roca, Francesc Xavier

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Selected Publications

  1. Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, and Takahashi MP (2011). A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia. Human Mutation, 32, 773-782.
  2. Bernard Cher TH, Chan HS, Klein GF, Jabkowski J, Schadenböck-Kranzl G, Zach O, Roca X, Law SK (2011). A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1. Biochemical and Biophysical Research Communications, 404, 1099-1104.
  3. Roca X, Krainer AR (2009). Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA. Nature Structural and Molecular Biology, 16, 176-182.
  4. Roca X, Olson AJ, Rao AR, Enerly E, Kristensen VN, Børresen-Dale AL, Andresen BS, Krainer AR, Sachidanandam R (2008). Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Research, 18, 77-87.
  5. Sheth N*, Roca X*, Hastings ML, Roeder T, Krainer AR, and Sachidanandam R (2006). Comprehensive splice-site analysis using comparative genomics. Nucleic Acids Research, 34, 3955-3967. *: equal contribution.
  6. Roca X, Sachidanandam R, and Krainer AR (2005). Determinants of the inherent strength of human 5' splice sites. RNA, 11, 683-698.
  7. Roca X, Sachidanandam R, and Krainer AR (2003). Intrinsic differences between authentic and cryptic 5' splice sites. Nucleic Acids Research, 31, 6321-6333.