Chaperoning osteogenesis: new protein-folding disease paradigms
- 31 March 2011
- journal article
- review article
- Published by Elsevier BV in Trends in Cell Biology
- Vol. 21 (3), 168-176
- https://doi.org/10.1016/j.tcb.2010.11.007
Abstract
No abstract availableKeywords
This publication has 86 references indexed in Scilit:
- Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndromeJournal of Bone and Mineral Research, 2010
- FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?American Journal of Human Genetics, 2010
- Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis ImperfectaAmerican Journal of Human Genetics, 2010
- Protein kinetic stabilityBiophysical Chemistry, 2010
- Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis ImperfectaAmerican Journal of Human Genetics, 2010
- Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis ImperfectaAmerican Journal of Human Genetics, 2010
- Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfectaCell and tissue research, 2009
- The unfolded protein response and its relevance to connective tissue diseasesCell and tissue research, 2009
- PPIB Mutations Cause Severe Osteogenesis ImperfectaAmerican Journal of Human Genetics, 2009
- Lrp5 Controls Bone Formation by Inhibiting Serotonin Synthesis in the DuodenumCell, 2008