| DURAN, Ivan, Lisette NEVAREZ, Anna SARUKHANOV, Sulin WU, Katrina LEE, Pavel KREJČÍ, Maryann WEIS, David EYRE, Deborah KRAKOW and Daniel H. COHN. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. Human Molecular Genetics. Oxford: Oxford Univ Press, 2015, vol. 24, No 7, p. 1918-1928. ISSN 0964-6906. Available from: https://dx.doi.org/10.1093/hmg/ddu608. |
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@article{1218862,
author = {Duran, Ivan and Nevarez, Lisette and Sarukhanov, Anna and Wu, Sulin and Lee, Katrina and Krejčí, Pavel and Weis, Maryann and Eyre, David and Krakow, Deborah and Cohn, Daniel H.},
article_location = {Oxford},
article_number = {7},
doi = {http://dx.doi.org/10.1093/hmg/ddu608},
keywords = {MOLECULAR CHAPERONE HSP47; RECESSIVE OSTEOGENESIS IMPERFECTA; COLLAGEN TRIPLE-HELIX; BRUCK SYNDROME; PROXIMITY LIGATION; BONE-FORMATION; PROTEIN; EXPRESSION; MUTATIONS; PATIENT},
language = {eng},
issn = {0964-6906},
journal = {Human Molecular Genetics},
title = {HSP47 and FKBP65 cooperate in the synthesis of type I procollagen},
volume = {24},
year = {2015}
}
TY - JOUR
ID - 1218862
AU - Duran, Ivan - Nevarez, Lisette - Sarukhanov, Anna - Wu, Sulin - Lee, Katrina - Krejčí, Pavel - Weis, Maryann - Eyre, David - Krakow, Deborah - Cohn, Daniel H.
PY - 2015
TI - HSP47 and FKBP65 cooperate in the synthesis of type I procollagen
JF - Human Molecular Genetics
VL - 24
IS - 7
SP - 1918-1928
EP - 1918-1928
PB - Oxford Univ Press
SN - 09646906
KW - MOLECULAR CHAPERONE HSP47
KW - RECESSIVE OSTEOGENESIS IMPERFECTA
KW - COLLAGEN TRIPLE-HELIX
KW - BRUCK SYNDROME
KW - PROXIMITY LIGATION
KW - BONE-FORMATION
KW - PROTEIN
KW - EXPRESSION
KW - MUTATIONS
KW - PATIENT
N2 - 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 that produce 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. These results thus reveal a common cellular pathway in cases of OI caused by HSP47 and FKBP65 deficiency.
ER -
DURAN, Ivan, Lisette NEVAREZ, Anna SARUKHANOV, Sulin WU, Katrina LEE, Pavel KREJČÍ, Maryann WEIS, David EYRE, Deborah KRAKOW and Daniel H. COHN. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. \textit{Human Molecular Genetics}. Oxford: Oxford Univ Press, 2015, vol.~24, No~7, p.~1918-1928. ISSN~0964-6906. Available from: https://dx.doi.org/10.1093/hmg/ddu608.
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