Ilkka Lappalainen

24.9.2004
Department of Biological and Environmental Sciences, Division of Biochemistry, University of Helsinki, Helsinki

Human Pathogenic Mutations in Protein Domains

Reviewers:

Docent Jari Ylänne, Biocenter Oulu and Department of Biochemistry, University of Oulu, Oulu

Docent Heikki Lehväslaiho, EMBL Outstation, European Bioinformatics Institute, Hinxton, United Kingdom

Opponent:

Rudy W. Hendriks, Department of Immunology, Erasmus MC Rotterdam, Rotterdam, The Netherlands

Custos:

Professor Carl G. Gahmberg, Department of Biosciences, Division of Biochemistry, University of Helsinki, Helsinki

Publications:

  1. Ollila J, Lappalainen I, Vihinen M. (1996) Sequence specificity in CpG mutation hotspots. FEBS Lett 396:119-22.
  2. Vihinen M, Brandau O, Branden LJ, Kwan SP, Lappalainen I, Lester T, Noordzij JG, Ochs HD, Ollila J, Pienaar SM, Riikonen P, Saha BK, Smith CI.(1998) BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Nucleic Acids Res 26:242-7.
  3. Mattsson PT, Lappalainen I, Backesjo CM, Brockmann E, Lauren S, Vihinen M, Smith CI. (2000) Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis. J Immunol 164:4170-7.
  4. Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M. (2000) Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. Biochem Biophys Res Commun 269:124-30.
  5. Lappalainen I, Vihinen M.(2002) Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B. Protein Eng 15:1005-14.
  6. Lappalainen I, Shen B, Vihinen M. Predicting the effects of pathogenic mutations in SH2 domain structures, manuscript.