| dc.contributor.author |
Goulielmos, GN |
en |
| dc.contributor.author |
Petraki, E |
en |
| dc.contributor.author |
Vassou, D |
en |
| dc.contributor.author |
Eliopoulos, E |
en |
| dc.contributor.author |
Iliopoulos, D |
en |
| dc.contributor.author |
Sidiropoulos, P |
en |
| dc.contributor.author |
Aksentijevich, I |
en |
| dc.contributor.author |
Kardassis, D |
en |
| dc.contributor.author |
Boumpas, DT |
en |
| dc.date.accessioned |
2014-06-06T06:50:46Z |
|
| dc.date.available |
2014-06-06T06:50:46Z |
|
| dc.date.issued |
2010 |
en |
| dc.identifier.issn |
0006291X |
en |
| dc.identifier.uri |
http://dx.doi.org/10.1016/j.bbrc.2010.10.004 |
en |
| dc.identifier.uri |
http://62.217.125.90/xmlui/handle/123456789/5147 |
|
| dc.subject |
Familial Mediterranean fever (FMF) |
en |
| dc.subject |
Gene network |
en |
| dc.subject |
MEFV |
en |
| dc.subject |
Pyrin |
en |
| dc.subject |
Three-dimensional model |
en |
| dc.subject.other |
protein |
en |
| dc.subject.other |
protein Siva 1 |
en |
| dc.subject.other |
pyrindamycin A |
en |
| dc.subject.other |
unclassified drug |
en |
| dc.subject.other |
apoptosis |
en |
| dc.subject.other |
article |
en |
| dc.subject.other |
bone marrow cell |
en |
| dc.subject.other |
controlled study |
en |
| dc.subject.other |
familial Mediterranean fever |
en |
| dc.subject.other |
fluorescence activated cell sorting |
en |
| dc.subject.other |
gene mutation |
en |
| dc.subject.other |
genetic transfection |
en |
| dc.subject.other |
human |
en |
| dc.subject.other |
human cell |
en |
| dc.subject.other |
human cell culture |
en |
| dc.subject.other |
immunoprecipitation |
en |
| dc.subject.other |
inflammation |
en |
| dc.subject.other |
pathogenesis |
en |
| dc.subject.other |
priority journal |
en |
| dc.subject.other |
protein binding |
en |
| dc.subject.other |
tumor cell culture |
en |
| dc.subject.other |
Western blotting |
en |
| dc.subject.other |
Amino Acid Sequence |
en |
| dc.subject.other |
Apoptosis |
en |
| dc.subject.other |
Apoptosis Regulatory Proteins |
en |
| dc.subject.other |
Cell Line, Tumor |
en |
| dc.subject.other |
Cytoskeletal Proteins |
en |
| dc.subject.other |
Familial Mediterranean Fever |
en |
| dc.subject.other |
Gene Regulatory Networks |
en |
| dc.subject.other |
Humans |
en |
| dc.subject.other |
Molecular Sequence Data |
en |
| dc.subject.other |
Mutation |
en |
| dc.subject.other |
Protein Conformation |
en |
| dc.subject.other |
Protein Structure, Tertiary |
en |
| dc.title |
The role of the pro-apoptotic protein Siva in the pathogenesis of Familial Mediterranean fever: A structural and functional analysis |
en |
| heal.type |
journalArticle |
en |
| heal.identifier.primary |
10.1016/j.bbrc.2010.10.004 |
en |
| heal.publicationDate |
2010 |
en |
| heal.abstract |
Familial Mediterranean fever (FMF) is an autosomal, recessive disease, attributed to mutations in MEFV gene encoding pyrin, which is characterized by recurrent, acute and self-limiting attacks of fever as well as an increased neutrophil and monocyte apoptosis. Most disease-associated mutations in MEFV gene reside on the C-terminal PRYSPRY (B30.2) domain of pyrin, an area found to interact with the pro-apoptotic protein Siva. Because apoptotic events may be contributing to endogenous inflammation we hypothesized that mutations in pyrin may affect Siva-mediated apoptosis. The confirmation of this hypothesis would be of a great biological significance since it would be demonstrated a connection between apoptosis and inflammation. We used homology modeling to construct a 3-D model of Siva protein and the constructed model of Siva defined structural elements with potential of binding other proteins to induce apoptosis. Given that Siva protein binds pyrin as shown by transfection and immunoprecipitation experiments, apoptosis was assessed by FACS and Western blotting. No differences in rates of apoptosis in myeloid cells (THP-1) upon transfection with either wt pyrin or mutant forms of pyrin were found. Patients with FMF did not display any mutations in the Siva-1 (full length) gene. Siva-1 was not linked to pyrin in the major predicted FMF gene network constructed using a literature-curated gene signature for FMF. These results suggest that Siva-mediated unprovoked apoptosis is not likely to be involved in the pathogenesis of FMF. © 2010 Elsevier Inc. |
en |
| heal.journalName |
Biochemical and Biophysical Research Communications |
en |
| dc.identifier.issue |
1 |
en |
| dc.identifier.volume |
402 |
en |
| dc.identifier.doi |
10.1016/j.bbrc.2010.10.004 |
en |
| dc.identifier.spage |
141 |
en |
| dc.identifier.epage |
146 |
en |