Antonella De Jaco

Summary

Affiliation: University of Rome La Sapienza
Country: Italy

Publications

  1. doi request reprint Congenital hypothyroidism mutations affect common folding and trafficking in the α/β-hydrolase fold proteins
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, CA, USA
    FEBS J 279:4293-305. 2012
  2. ncbi request reprint Processing of cholinesterase-like α/β-hydrolase fold proteins: alterations associated with congenital disorders
    Antonella De Jaco
    Dipartimento di Biologia e Biotecnologie Charles Darwin, Universita di Roma La Sapienza, Italy
    Protein Pept Lett 19:173-9. 2012
  3. doi request reprint Folding anomalies of neuroligin3 caused by a mutation in the alpha/beta-hydrolase fold domain
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, CA 92093, United States
    Chem Biol Interact 187:56-8. 2010
  4. pmc Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, California 92093, USA
    J Biol Chem 285:28674-82. 2010
  5. pmc Contributions of selective knockout studies to understanding cholinesterase disposition and function
    Shelley Camp
    Department Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences 0657, University of California San Diego, La Jolla, CA 92093 0657, USA
    Chem Biol Interact 187:72-7. 2010
  6. ncbi request reprint A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family
    Antonella De Jaco
    Department of Pharmacology, University of California San Diego, La Jolla, California 92093 0636, USA
    J Biol Chem 281:9667-76. 2006
  7. pmc Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
    Giulia Falivelli
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA 92093, USA
    Hum Mol Genet 21:4761-73. 2012
  8. pmc Trafficking of cholinesterases and neuroligins mutant proteins. An association with autism
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA 92093 0657, USA
    Chem Biol Interact 175:349-51. 2008
  9. ncbi request reprint A single mutation near the C-terminus in alpha/beta hydrolase fold protein family causes a defect in protein processing
    Antonella De Jaco
    Department of Pharmacology and National Center for Microscopy and Imaging Research, University of California San Diego, La Jolla, CA 92093 0636, USA
    Chem Biol Interact 157:371-2. 2005
  10. pmc Acetylcholinesterase expression in muscle is specifically controlled by a promoter-selective enhancesome in the first intron
    Shelley Camp
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, California 92093 0650, USA
    J Neurosci 28:2459-70. 2008

Collaborators

Detail Information

Publications13

  1. doi request reprint Congenital hypothyroidism mutations affect common folding and trafficking in the α/β-hydrolase fold proteins
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, CA, USA
    FEBS J 279:4293-305. 2012
    ..More importantly, a similar assembly of the α/β-hydrolase fold domain tertiary structure among homologous members of the superfamily is required for correct trafficking of the proteins to their final destination...
  2. ncbi request reprint Processing of cholinesterase-like α/β-hydrolase fold proteins: alterations associated with congenital disorders
    Antonella De Jaco
    Dipartimento di Biologia e Biotecnologie Charles Darwin, Universita di Roma La Sapienza, Italy
    Protein Pept Lett 19:173-9. 2012
    ....
  3. doi request reprint Folding anomalies of neuroligin3 caused by a mutation in the alpha/beta-hydrolase fold domain
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, CA 92093, United States
    Chem Biol Interact 187:56-8. 2010
    ..These findings highlight the role of proper protein folding in protein processing and localization...
  4. pmc Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, California 92093, USA
    J Biol Chem 285:28674-82. 2010
    ..Our results suggest that disease-related mutations in the alpha/beta-hydrolase fold domain share common trafficking deficiencies yet lead to discrete congenital disorders of differing severity in the endocrine and nervous systems...
  5. pmc Contributions of selective knockout studies to understanding cholinesterase disposition and function
    Shelley Camp
    Department Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences 0657, University of California San Diego, La Jolla, CA 92093 0657, USA
    Chem Biol Interact 187:72-7. 2010
    ..The studies generated by these knockout mouse strains have yielded valuable insights into the function and localization of AChE in mammalian systems that cannot be approached in cell culture or in vitro...
  6. ncbi request reprint A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family
    Antonella De Jaco
    Department of Pharmacology, University of California San Diego, La Jolla, California 92093 0636, USA
    J Biol Chem 281:9667-76. 2006
    ..The mutation may alter the capacity of these proteins to dissociate from their chaperone prior to oligomerization and processing for export...
  7. pmc Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
    Giulia Falivelli
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA 92093, USA
    Hum Mol Genet 21:4761-73. 2012
    ..Our data support a complex genetic architecture in which multiple distinct risk factors interact with others to shape autism risk and presentation...
  8. pmc Trafficking of cholinesterases and neuroligins mutant proteins. An association with autism
    Antonella De Jaco
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA 92093 0657, USA
    Chem Biol Interact 175:349-51. 2008
    ..We identified several proteins belonging to distinct ER resident chaperones families, including calnexin, responsible for playing a role in the folding steps of the AChE and NLs...
  9. ncbi request reprint A single mutation near the C-terminus in alpha/beta hydrolase fold protein family causes a defect in protein processing
    Antonella De Jaco
    Department of Pharmacology and National Center for Microscopy and Imaging Research, University of California San Diego, La Jolla, CA 92093 0636, USA
    Chem Biol Interact 157:371-2. 2005
    ....
  10. pmc Acetylcholinesterase expression in muscle is specifically controlled by a promoter-selective enhancesome in the first intron
    Shelley Camp
    Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, La Jolla, California 92093 0650, USA
    J Neurosci 28:2459-70. 2008
    ....
  11. pmc Cholinesterase confabs and cousins: Approaching forty years
    Palmer Taylor
    Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, 9500 Gilman Drive, Mail Code 0657, La Jolla, CA 92093, United States Electronic address
    Chem Biol Interact 203:10-3. 2013
    ....
  12. ncbi request reprint The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing
    Davide Comoletti
    Department of Pharmacology, University of California, San Diego, La Jolla, California 92093 0636, USA
    J Neurosci 24:4889-93. 2004
    ..Other substitutions for Arg451 allow for normal cellular expression but diminished affinity for NX1beta. Our findings reveal a cellular phenotype and loss of function for a congenital mutation associated with autistic spectrum disorders...
  13. ncbi request reprint Influence of the 5' intron in the control of acetylcholinesterase gene expression during myogenesis
    Antonella De Jaco
    Department of Pharmacology, University of California San Diego, La Jolla, CA 92093 0636, USA
    Chem Biol Interact 157:372-3. 2005
    ..Marquez, B. de La Torre, J.M. Long, G. Bucht, P. Taylor, Acetylcholinesterase (AChE) gene modification in transgenic animals: functional consequences of selected exon and regulatory region deletion, VIII IMC Proceedings]...