Thromb Haemost 2015; 114(01): 208-210
DOI: 10.1160/TH14-11-0926
Letters to the Editor
Schattauer GmbH

Instability of cytosolic phospholipase A2α variant upon cellular expression as a basis for its clinical presentation

Aida Zulueta
1   Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy
,
Cristina Razzari
2   Medicina 3, Azienda Ospedaliera San Paolo, and Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy
,
Gessica Fontana
2   Medicina 3, Azienda Ospedaliera San Paolo, and Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy
,
Eti A. Femia
2   Medicina 3, Azienda Ospedaliera San Paolo, and Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy
,
Elena M. Faioni
2   Medicina 3, Azienda Ospedaliera San Paolo, and Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy
,
Marco Cattaneo
2   Medicina 3, Azienda Ospedaliera San Paolo, and Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy
,
Marco Trinchera
3   Dipartimento di Medicina Clinica e Sperimentale, Università dell’Insubria, Varese, Italy
› Author Affiliations
Further Information

Publication History

Received: 10 November 2014

Accepted after minor revision: 24 February 2015

Publication Date:
22 November 2017 (online)

 

 
  • References

  • 1 Faioni EM, Razzari C, Zulueta A. et al. Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency. Thromb Haemost 2014; 112: 1182-1189.
  • 2 Adler DH, Cogan JD, Phillips JA 3rd et al.. Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction. J Clin Invest 2008; 118: 2121-2131.
  • 3 Brooke MA, Longhurst HJ, Plagnol V. et al. Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2a. Gut 2014; 63: 96-104.
  • 4 Zulueta A, Caretti A, Signorelli P, Dall’Olio F, Trinchera M. Transcriptional control of the B3GALT5 gene by a retroviral promoter and methylation of distant regulatory elements. FASEB J 2014; 28: 946-955.
  • 5 Deutsch S, Rideau A, Bochaton-Piallat ML. et al. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Blood 2003; 102: 529-534.
  • 6 Shin DS, Zhao R, Fiser A. et al. Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption. Am J Physiol Cell Physiol 2012; 303: C834-842.
  • 7 Tomala K, Korona R. Molecular chaperones and selection against mutations. Biology Direct 2008; 03: 5.
  • 8 Caretti A, Sirchia SM, Tabano S. et al. DNA methylation and histone modifications modulate the 1,3 galactosyltransferase 3Gal-T5 native promoter in cancer cells. Int J Biochem Cell Biol 2012; 44: 84-90.