| Autor: |
Boudko Sergei P, Ishikawa Yoshihiro, Lerch Thomas F, Nix Jay, Chapman Michael S, Bächinger Hans |
| Jazyk: |
angličtina |
| Rok vydání: |
2012 |
| Předmět: |
|
| Zdroj: |
BMC Research Notes, Vol 5, Iss 1, p 626 (2012) |
| Druh dokumentu: |
article |
| ISSN: |
1756-0500 |
| DOI: |
10.1186/1756-0500-5-626 |
| Popis: |
Abstract Background Hyperelastosis cutis is an inherited autosomal recessive connective tissue disorder. Affected horses are characterized by hyperextensible skin, scarring, and severe lesions along the back. The disorder is caused by a mutation in cyclophilin B. Results The crystal structures of both wild-type and mutated (Gly6->Arg) horse cyclophilin B are presented. The mutation neither affects the overall fold of the enzyme nor impairs the catalytic site structure. Instead, it locally rearranges the flexible N-terminal end of the polypeptide chain and also makes it more rigid. Conclusions Interactions of the mutated cyclophilin B with a set of endoplasmic reticulum-resident proteins must be affected. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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