HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Human Molecular Genetics

ISSN

0964-6906

e-ISSN

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Svazek periodika

24

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

11

Strana od-do

1918-1928

Kód UT WoS článku

000353065300010

EID výsledku v databázi Scopus

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