LEPRE1
Reactivité: Humain
ELISA, IHC
Hôte: Lapin
Polyclonal
APC
Indications d'application
Optimal working dilution should be determined by the investigator.
Restrictions
For Research Use only
Buffer
In 1x PBS, pH 7.4
Conseil sur la manipulation
Aliquot to avoid repeated freezing and thawing.
Stock
-20 °C
Stockage commentaire
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
Huang, Mei, Lv, Li, Zhang, Pan, Tan, Guo, Luo, Chen, Liang, Wu: "Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII." dans: Clinica chimica acta; international journal of clinical chemistry, Vol. 464, pp. 170-175, (2016) (PubMed).
Cabral, Perdivara, Weis, Terajima, Blissett, Chang, Perosky, Makareeva, Mertz, Leikin, Tomer, Kozloff, Eyre, Yamauchi, Marini: "Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta." dans: PLoS genetics, Vol. 10, Issue 6, pp. e1004465, (2014) (PubMed).
Takagi, Ishii, Barnes, Weis, Amano, Tanaka, Fukuzawa, Nishimura, Eyre, Marini, Hasegawa: "A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta." dans: PLoS ONE, Vol. 7, Issue 5, pp. e36809, (2012) (PubMed).
Pyott, Schwarze, Christiansen, Pepin, Leistritz, Dineen, Harris, Burton, Angle, Kim, Sussman, Weis, Eyre, Russell, McCarthy, Steiner, Byers: "Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes." dans: Human molecular genetics, Vol. 20, Issue 8, pp. 1595-609, (2011) (PubMed).
Amor, Rauch, Gruenwald, Weis, Eyre, Roughley, Glorieux, Morello: "Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP." dans: American journal of medical genetics. Part A, Vol. 155A, Issue 11, pp. 2865-70, (2011) (PubMed).
Willaert, Malfait, Symoens, Gevaert, Kayserili, Megarbane, Mortier, Leroy, Coucke, De Paepe: "Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation." dans: Journal of medical genetics, Vol. 46, Issue 4, pp. 233-41, (2009) (PubMed).
van Dijk, Nesbitt, Zwikstra, Nikkels, Piersma, Fratantoni, Jimenez, Huizer, Morsman, Cobben, van Roij, Elting, Verbeke, Wijnaendts, Shaw, Högler, McKeown, Sistermans, Dalton, Meijers-Heijboer, Pals: "PPIB mutations cause severe osteogenesis imperfecta." dans: American journal of human genetics, Vol. 85, Issue 4, pp. 521-7, (2009) (PubMed).
Chang, Barnes, Cabral, Bodurtha, Marini: "Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex." dans: Human molecular genetics, Vol. 19, Issue 2, pp. 223-34, (2009) (PubMed).