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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
Syx D, Ishikawa Y, Gebauer J, Boudko SP, Guillemyn B, Van Damme T, D'hondt S, Symoens S, Nampoothiri S, Gould DB, Baumann U, Bächinger HP, Malfait F. Syx D, et al. Among authors: bachinger hp. PLoS Genet. 2021 Feb 1;17(2):e1009339. doi: 10.1371/journal.pgen.1009339. eCollection 2021 Feb. PLoS Genet. 2021. PMID: 33524049 Free PMC article.
The crucial role of trimerization domains in collagen folding.
Boudko SP, Engel J, Bächinger HP. Boudko SP, et al. Among authors: bachinger hp. Int J Biochem Cell Biol. 2012 Jan;44(1):21-32. doi: 10.1016/j.biocel.2011.09.009. Epub 2011 Oct 5. Int J Biochem Cell Biol. 2012. PMID: 22001560 Review.
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
D'hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, Toussaint W, Lambrecht BN, De Paepe A, Keene DR, Ishikawa Y, Bächinger HP, Janssens S, Bertrand MJM, Malfait F. D'hondt S, et al. Among authors: bachinger hp. Matrix Biol. 2018 Sep;70:72-83. doi: 10.1016/j.matbio.2018.03.008. Epub 2018 Mar 15. Matrix Biol. 2018. PMID: 29551664
159 results