Article
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Human molecular genetics - 1 Jan 2013
Schwarze Ulrike, Cundy Tim, Pyott Shawna M, Christiansen Helena E, Hegde Madhuri R, Bank Ruud A, Pals Gerard, Ankala Arunkanth, Conneely Karen, Seaver Laurie, Yandow Suzanne M, Raney Ellen, Babovic-Vuksanovic Dusica, Stoler Joan, Ben-Neriah Ziva, Segel Reeval, Lieberman Sari, Siderius Liesbeth, Al-Aqeel Aida, Hannibal Mark, Hudgins Louanne, McPherson Elizabeth, Clemens Michele, Sussman Michael D, Steiner Robert D, Mahan John, Smith Rosemarie, Anyane-Yeboa Kwame, Wynn Julia, Chong Karen, Uster Tami, Aftimos Salim, Sutton V Reid, Davis Elaine C, Kim Lammy S, Weis Mary Ann, Eyre David, Byers Peter H
Abstract excerpt
Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has identified new pathways and potential interventions that could benefit even those with mutations in type I collagen genes. We identified mutations in FKBP10, which encodes the 65 kDa prolyl cis-trans isomerase, FKBP65, in 38 members of 21 families with OI. These...
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