Makings of a brittle bone: Unexpected lessons from a low protein diet study of a mouse OI model

2014, 555 Tosi, 2015, Mechanistic and therapeutic insights gained from studying rare skeletal diseases, Bone, 76, 67, 10.1016/j.bone.2015.03.016 Marini, 2014, Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation, Curr. Opin. Pediatr., 26, 500, 10.1097/MOP.0000000000000117 Glorieux, 2013, Osteogenesis imperfecta, an ever-expanding conundrum, J. Bone Miner. Res., 28, 1519, 10.1002/jbmr.1982 Marini, 2007, Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans, Hum. Mutat., 28, 209, 10.1002/humu.20429 Daley, 2010, Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model, J. Bone Miner. Res., 25, 247, 10.1359/jbmr.090720 Mirigian, 2016, Osteoblast malfunction caused by cell stress response to procollagen misfolding in a2(I)-G610C mouse model of osteogenesis imperfecta, J. Bone Miner. Res., 10.1002/jbmr.2824 Jacobsen, 2014, Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta, J. Bone Miner. Res., 29, 2297, 10.1002/jbmr.2198 Grafe, 2014, Excessive transforming growth factor-beta signaling is a common mechanism in osteogenesis imperfecta, Nat. Med., 20, 670, 10.1038/nm.3544 Jeong, 2015, Hindlimb skeletal muscle function and skeletal quality and strength in +/G610C mice with and without weight-bearing exercise, J. Bone Miner. Res., 30, 1874, 10.1002/jbmr.2518 Makareeva, 2014, Collagen structure, folding and function, 71 Grumati, 2010, Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration, Nat. Med., 16, 1313, 10.1038/nm.2247 Gioia, 2012, Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy, Stem Cells, 30, 1465, 10.1002/stem.1107 Ishida, 2009, Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection, Mol. Biol. Cell, 20, 2744, 10.1091/mbc.e08-11-1092 Martin, 1998, 395 Pritchard, 1956, General anatomy and histology of bone, 1 Currey, 2003, The many adaptations of bone, J. Biomech., 36, 1487, 10.1016/S0021-9290(03)00124-6 Wagermaier, 2015, Fragility of bone material controlled by internal interfaces, Calcif. Tissue Int., 97, 201, 10.1007/s00223-015-9978-4 Carriero, 2014, How tough is brittle bone? Investigating osteogenesis imperfecta in mouse bone, J. Bone Miner. Res., 29, 1392, 10.1002/jbmr.2172 Sinder, 2015, Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment, Bone, 71, 115, 10.1016/j.bone.2014.10.012 Boyde, 1999, The mineralization density of iliac crest bone from children with osteogenesis imperfecta, Calcif. Tissue Int., 64, 185, 10.1007/s002239900600 Forlino, 1999, Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice, J. Biol. Chem., 274, 37923, 10.1074/jbc.274.53.37923 Fratzl-Zelman, 2015, Bone mass and mineralization in osteogenesis imperfecta, Wien. Med. Wochenschr., 165, 271, 10.1007/s10354-015-0369-2 Kozloff, 2004, Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength, J. Bone Miner. Res., 19, 614, 10.1359/JBMR.040111 Reilly, 1975, The elastic and ultimate properties of compact bone tissue, J. Biomech., 8, 393, 10.1016/0021-9290(75)90075-5 Burstein, 1975, Contribution of collagen and mineral to the elastic–plastic properties of bone, J. Bone Joint Surg. Am., 57, 956, 10.2106/00004623-197557070-00013 Fedarko, 1992, Extracellular matrix formation by osteoblasts from patients with osteogenesis imperfecta, J. Bone Miner. Res., 7, 921, 10.1002/jbmr.5650070809 Coleman, 2012, Comparison of bone tissue properties in mouse models with collagenous and non-collagenous genetic mutations using FTIRI, Bone, 51, 920, 10.1016/j.bone.2012.08.110 Rauch, 2000, Static and dynamic bone histomorphometry in children with osteogenesis imperfecta, Bone, 26, 581, 10.1016/S8756-3282(00)00269-6 Frost, 2003, On the pathogenesis of osteogenesis imperfecta: some insights of the Utah paradigm of skeletal physiology, J. Musculoskelet. Neuronal Interact., 3, 1 Forlino, 2007, Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI, Matrix Biol., 26, 604, 10.1016/j.matbio.2007.06.005 Forlino, 2007, Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta, Proteomics, 7, 1877, 10.1002/pmic.200600919 Dandekar, 2015, Cross talk between ER stress, oxidative stress, and inflammation in health and disease, Methods Mol. Biol., 1292, 205, 10.1007/978-1-4939-2522-3_15 Suire, 2012, Isolation of the stromal–vascular fraction of mouse bone marrow markedly enhances the yield of clonogenic stromal progenitors, Blood, 119, e86, 10.1182/blood-2011-08-372334 Aaron, 1987, Rapid preparation of fresh-frozen undecalcified bone for histological and histochemical analysis, J. Histochem. Cytochem., 35, 361, 10.1177/35.3.2434557 Mertz, 2012, Matrix disruptions, growth, and degradation of cartilage with impaired sulfation, J. Biol. Chem., 287, 22030, 10.1074/jbc.M110.116467 Panaroni, 2009, In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta, Blood, 114, 459, 10.1182/blood-2008-12-195859 Balooch, 2005, TGF-beta regulates the mechanical properties and composition of bone matrix, Proc. Natl. Acad. Sci. U. S. A., 102, 18813, 10.1073/pnas.0507417102