Nicholas J Marini
Affiliation: University of California
- The prevalence of folate-remedial MTHFR enzyme variants in humansNicholas 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...
- The use of orthologous sequences to predict the impact of amino acid substitutions on protein functionNicholas 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...
- A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysisNicholas 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...
- Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitroDago 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....
- Comprehensive approach to analyzing rare genetic variantsThomas 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...
- DNA binding hairpin polyamides with antifungal activityNicholas 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...