HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F15%3A00082311" target="_blank" >RIV/00216224:14110/15:00082311 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1093/hmg/ddu608" target="_blank" >http://dx.doi.org/10.1093/hmg/ddu608</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/hmg/ddu608" target="_blank" >10.1093/hmg/ddu608</a>

Result language
angličtina
Original language name
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen
Original language description
Osteogenesis Imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified thatproduce autosomal recessive forms of the disease. Among these include mutations in the genes SERPINH1 and FKBP10 which encode the type I procollagen chaperones HSP47 and FKBP65, respectively, and predominantly produce a moderately severe form of OI. Little is known about the biochemical consequences of the mutations and how they produce OI. We have identified a new OI mutation in SERPINH1 that results in destabilization and mislocalization of HSP47, and secondarily has similar effects on FKBP65. We found evidence that HSP47 and FKBP65 act cooperatively during posttranslational maturation of type I procollagen and that FKBP65 and HSP47, but fail to properly interact in mutant HSP47 cells.
Czech name
—
Czech description
—

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
—

Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)