Alessandra Pontillo

Summary

Affiliation: University of Trieste
Country: Italy

Publications

  1. ncbi request reprint Gene symbol: GJA1. Disease: oculodentodigital dysplasia
    A Pontillo
    Medical Genetics Service, I R C C S
    Hum Genet 116:235. 2005
  2. doi request reprint A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection
    Alessandra Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste, Italy
    J Acquir Immune Defic Syndr 54:236-40. 2010
  3. doi request reprint NALP1/NLRP1 genetic variants are associated with Alzheimer disease
    Alessandra Pontillo
    Institute for Maternal and Child Health IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
    Alzheimer Dis Assoc Disord 26:277-81. 2012
  4. pmc The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency
    Alessandra Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy
    Eur J Hum Genet 18:844-7. 2010
  5. doi request reprint The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease
    Alessandra Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
    Am J Gastroenterol 106:539-44. 2011
  6. doi request reprint Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil
    A Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
    Autoimmunity 43:583-9. 2010
  7. doi request reprint The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency
    Annalisa Marcuzzi
    Medical Genetic Service, Institute for Maternal and Child Health Burlo Garofolo, Trieste 34134, Italy
    Pediatr Res 70:78-82. 2011
  8. doi request reprint Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency
    Annalisa Marcuzzi
    Paediatric Division, Institute of Child Health, IRCCS Burlo Garofolo, Via dell Istria 65 1, 34137, Trieste, Italy
    Inflamm Res 59:335-8. 2010
  9. doi request reprint Targeting farnesyl-transferase as a novel therapeutic strategy for mevalonate kinase deficiency: in vitro and in vivo approaches
    Luigina De Leo
    Department of Reproductive and Developmental Sciences, and Public Healthcare, University of Trieste, Italy
    Pharmacol Res 61:506-10. 2010
  10. ncbi request reprint Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency
    Annalisa Marcuzzi
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
    In Vivo 25:87-92. 2011

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Gene symbol: GJA1. Disease: oculodentodigital dysplasia
    A Pontillo
    Medical Genetics Service, I R C C S
    Hum Genet 116:235. 2005
  2. doi request reprint A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection
    Alessandra Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste, Italy
    J Acquir Immune Defic Syndr 54:236-40. 2010
    ....
  3. doi request reprint NALP1/NLRP1 genetic variants are associated with Alzheimer disease
    Alessandra Pontillo
    Institute for Maternal and Child Health IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
    Alzheimer Dis Assoc Disord 26:277-81. 2012
    ..These findings seem to support the previously reported role of NALP1 in neuronal damage, and provide evidence of an association between single nucleotide variations in the NLRP1 gene and AD...
  4. pmc The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency
    Alessandra Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy
    Eur J Hum Genet 18:844-7. 2010
    ..This is the first time that the involvement of the inflammasome complexes was shown in MKD pathogenesis...
  5. doi request reprint The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease
    Alessandra Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
    Am J Gastroenterol 106:539-44. 2011
    ..We hypothesized that polymorphisms in these genes, due to their role in innate immunity and inflammatory processes, may affect susceptibility to CD...
  6. doi request reprint Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil
    A Pontillo
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
    Autoimmunity 43:583-9. 2010
    ....
  7. doi request reprint The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency
    Annalisa Marcuzzi
    Medical Genetic Service, Institute for Maternal and Child Health Burlo Garofolo, Trieste 34134, Italy
    Pediatr Res 70:78-82. 2011
    ..The effect of GOH and Tip was successfully replicated in MKD patients' monocytes. Tip and Lon showed a dramatic anti-inflammatory effect in monocytes where mevalonate pathway was chemically or genetically impaired...
  8. doi request reprint Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency
    Annalisa Marcuzzi
    Paediatric Division, Institute of Child Health, IRCCS Burlo Garofolo, Via dell Istria 65 1, 34137, Trieste, Italy
    Inflamm Res 59:335-8. 2010
    ..The aim of this study was to evaluate, in a mouse model of mevalonate kinase deficiency (MKD), the possible link between inflammatory symptoms and serum cholesterol levels...
  9. doi request reprint Targeting farnesyl-transferase as a novel therapeutic strategy for mevalonate kinase deficiency: in vitro and in vivo approaches
    Luigina De Leo
    Department of Reproductive and Developmental Sciences, and Public Healthcare, University of Trieste, Italy
    Pharmacol Res 61:506-10. 2010
    ....
  10. ncbi request reprint Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency
    Annalisa Marcuzzi
    Medical Genetic Service, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
    In Vivo 25:87-92. 2011
    ....
  11. ncbi request reprint DEFB1 gene polymorphisms and increased risk of HIV-1 infection in Brazilian children
    Michele Milanese
    Department of Developmental and Reproductive Sciences, University of Trieste, Trieste, Italy
    AIDS 20:1673-5. 2006
    ..Our results allowed us to hypothesize that the SNPs located in the 5' UTR of the DEFB1 gene can be employed as a marker of risk for HIV-1 infection...
  12. ncbi request reprint Defect in mevalonate pathway induces pyroptosis in Raw 264.7 murine monocytes
    Annalisa Marcuzzi
    Medical Genetic Service, Institute for Maternal and Child Health Burlo Garofolo, Trieste, Italy
    Apoptosis 16:882-8. 2011
    ..The involvement of pyroptosis is a novel hit in our cell model and opens discussions about its role in inflammatory cells with chemical or genetic inhibition of mevalonate pathway...
  13. pmc Evolution of the hepcidin gene in primates
    Ludovica Segat
    Genetic Unit, IRCCS Burlo Garofolo and Department of Reproductive and Developmental Sciences, University of Trieste, Trieste, Italy
    BMC Genomics 9:120. 2008
    ..As part of a systematic analysis of the evolution of host defense peptides in primates, we have sequenced the orthologous gene from 14 species of non-human primates...
  14. doi request reprint Natural isoprenoids inhibit LPS-induced-production of cytokines and nitric oxide in aminobisphosphonate-treated monocytes
    Annalisa Marcuzzi
    Department of Reproductive and Developmental Sciences, University of Trieste, Italy
    Int Immunopharmacol 10:639-42. 2010
    ..These natural isoprenoids could be proposed as novel therapeutic approach for the still orphan drug MKD, but also considered for the evaluation of possible inflammatory side effects of aminobisphosphonates...
  15. ncbi request reprint Evolution of the primate cathelicidin. Correlation between structural variations and antimicrobial activity
    Igor Zelezetsky
    Department of Biochemistry, University of Trieste, Trieste, I 34127, Italy
    J Biol Chem 281:19861-71. 2006
    ..The evolution of these peptides has thus resulted in distinct mechanisms of action that affect the direct antimicrobial activity and may also modulate accessory antimicrobial functions due to interactions with host cells...
  16. doi request reprint Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency
    Annalisa Marcuzzi
    Department of Reproductive and Developmental Sciences, University of Trieste, Trieste, Italy
    Pediatr Res 64:177-82. 2008
    ..All these compounds were effective in preventing the inflammation induced by alendronate-muramyldipeptide, suggesting a possible role for these compounds in the treatment of MKD in humans...
  17. doi request reprint HIV-1 induces NALP3-inflammasome expression and interleukin-1β secretion in dendritic cells from healthy individuals but not from HIV-positive patients
    Alessandra Pontillo
    Laboratory of Medical Investigation in Dermatology and Immunodeficiency, Faculty of Medicine, University of Sao Paulo, Brazil
    AIDS 26:11-8. 2012
    ..Moreover, inflammasome response to HIV was evaluated in HIV-infected individuals...
  18. doi request reprint Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment
    Ludovica Segat
    Laboratory of Immunopathology Keizo Asami LIKA, Federal University of Pernambuco, Recife, Brazil
    Vaccine 28:2201-6. 2010
    ..Our findings suggest that, independently and/or in addition to other variables, the host's genome could significantly contribute to the modulation of the response to the DC vaccine...
  19. ncbi request reprint A single-nucleotide polymorphism in the human beta-defensin 1 gene is associated with HIV-1 infection in Italian children
    Laura Braida
    Dipartimento di Scienze delle Riproduzione e dello Sviluppo, University of Trieste, Italy
    AIDS 18:1598-600. 2004
    ....
  20. doi request reprint Genetic predictors of glucocorticoid response in pediatric patients with inflammatory bowel diseases
    Sara De Iudicibus
    Department of Life Sciences, University of Trieste, Trieste, Italy
    J Clin Gastroenterol 45:e1-7. 2011
    ..Glucocorticoids (GCs) are used in moderate-to-severe inflammatory bowel diseases (IBD) but their effect is often unpredictable...
  21. ncbi request reprint Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency
    Marco Nevyjel
    Institute of Child Health IRCCS Burlo Garofolo, University of Trieste, Via dell Istria 65 1, 34137 Trieste, Italy
    Pediatrics 119:e523-7. 2007
    ....
  22. pmc Anti-α-enolase Antibodies in Serum from Pediatric Patients Affected by Inflammatory Diseases: Diagnostic and Pathogenetic Insights
    Alessandra Pontillo
    Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Via dell Istria 65 1, 34137 Trieste, Italy
    Int J Rheumatol 2011:870214. 2011
    ..These findings suggested that the genetic dysfunction of inflammasome associated with HPF could lead to the formation of AAE Abs that could be used for an early and easy diagnosis...