Nicholas J Marini

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc The prevalence of folate-remedial MTHFR enzyme variants in humans
    Nicholas J Marini
    Department of Molecular and Cellular Biology, California Institute for Quantitative Biosciences, Stanley Hall, University of California, Berkeley, CA 94720 3220, USA
    Proc Natl Acad Sci U S A 105:8055-60. 2008
  2. pmc The use of orthologous sequences to predict the impact of amino acid substitutions on protein function
    Nicholas J Marini
    California Institute for Quantitative Biosciences, Department of Molecular and Cellular Biology, University of California Berkeley, Berkeley, California, United States of America
    PLoS Genet 6:e1000968. 2010
  3. pmc A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis
    Nicholas J Marini
    Department of Molecular and Cellular Biology, California Institute for Quantitative Biosciences, University of California, Berkeley, California, United States of America
    PLoS ONE 6:e28408. 2011
  4. pmc Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro
    Dago Dimster-Denk
    The California Institute for Quantitative Biosciences, Department of Molecular and Cellular Biology, University of California, Berkeley, California 94720
    G3 (Bethesda) 3:1619-28. 2013
  5. pmc Comprehensive approach to analyzing rare genetic variants
    Thomas J Hoffmann
    Department of Epidemiology and Biostatistics and Institute of Human Genetics, University of California San Francisco, San Francisco, California, United States of America
    PLoS ONE 5:e13584. 2010
  6. ncbi request reprint DNA binding hairpin polyamides with antifungal activity
    Nicholas J Marini
    Department of Microbial Genomics, GeneSoft, Inc, South San Francisco, CA 94080, USA
    Chem Biol 10:635-44. 2003

Collaborators

Detail Information

Publications6

  1. pmc The prevalence of folate-remedial MTHFR enzyme variants in humans
    Nicholas J Marini
    Department of Molecular and Cellular Biology, California Institute for Quantitative Biosciences, Stanley Hall, University of California, Berkeley, CA 94720 3220, USA
    Proc Natl Acad Sci U S A 105:8055-60. 2008
    ..Furthermore, vitamin remediation of mutant enzymes may be a common phenomenon in certain domains of proteins...
  2. pmc The use of orthologous sequences to predict the impact of amino acid substitutions on protein function
    Nicholas J Marini
    California Institute for Quantitative Biosciences, Department of Molecular and Cellular Biology, University of California Berkeley, Berkeley, California, United States of America
    PLoS Genet 6:e1000968. 2010
    ..We show that such an "ancestral site preservation" measure outperforms other prediction methods, not only in our selected set for MTHFR, but also in an exhaustive set of E. coli LacI mutants...
  3. pmc A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis
    Nicholas J Marini
    Department of Molecular and Cellular Biology, California Institute for Quantitative Biosciences, University of California, Berkeley, California, United States of America
    PLoS ONE 6:e28408. 2011
    ..Furthermore, the identification of ethnic-specific risk signatures for spina bifida resonated with epidemiological data suggesting that the underlying pathogenesis may differ between Hispanic and non-Hispanic groups...
  4. pmc Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro
    Dago Dimster-Denk
    The California Institute for Quantitative Biosciences, Department of Molecular and Cellular Biology, University of California, Berkeley, California 94720
    G3 (Bethesda) 3:1619-28. 2013
    ....
  5. pmc Comprehensive approach to analyzing rare genetic variants
    Thomas J Hoffmann
    Department of Epidemiology and Biostatistics and Institute of Human Genetics, University of California San Francisco, San Francisco, California, United States of America
    PLoS ONE 5:e13584. 2010
    ..This agnostic approach allows one to efficiently analyze the association between rare variants and disease while avoiding assumptions required by other approaches for grouping such variants...
  6. ncbi request reprint DNA binding hairpin polyamides with antifungal activity
    Nicholas J Marini
    Department of Microbial Genomics, GeneSoft, Inc, South San Francisco, CA 94080, USA
    Chem Biol 10:635-44. 2003
    ..Transcriptional interference is proposed as the likely explanation for fungal cytotoxicity. Experiments with sensitized yeast strains indicate the potential for discrete sites of action rather than global effects...