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

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

[1]  F. Marongiu,et al.  Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency , 2014, Thrombosis and Haemostasis.

[2]  F. dall’Olio,et al.  Transcriptional control of the B3GALT5 gene by a retroviral promoter and methylation of distant regulatory elements , 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[3]  D. Kelsell,et al.  Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α , 2012, Gut.

[4]  A. Fiser,et al.  Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption. , 2012, American journal of physiology. Cell physiology.

[5]  D. Brenner,et al.  Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction. , 2008, The Journal of clinical investigation.

[6]  R. Korona,et al.  Molecular chaperones and selection against mutations , 2008, Biology Direct.

[7]  S. Antonarakis,et al.  Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. , 2003, Blood.

[8]  S. Sirchia,et al.  DNA methylation and histone modifications modulate the β1,3 galactosyltransferase β3Gal-T5 native promoter in cancer cells. , 2012, The international journal of biochemistry & cell biology.