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Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim mice.
Roberts-Pilgrim AM, Makareeva E, Myles MH, Besch-Williford CL, Brodeur AC, Walker AL, Leikin S, Franklin CL, Phillips CL. Roberts-Pilgrim AM, et al. Among authors: makareeva e. Mol Genet Metab. 2011 Nov;104(3):373-82. doi: 10.1016/j.ymgme.2011.07.025. Epub 2011 Jul 31. Mol Genet Metab. 2011. PMID: 21855382 Free PMC article.
Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.
Cabral WA, Mertts MV, Makareeva E, Colige A, Tekin M, Pandya A, Leikin S, Marini JC. Cabral WA, et al. Among authors: makareeva e. J Biol Chem. 2003 Mar 21;278(12):10006-12. doi: 10.1074/jbc.M212523200. Epub 2003 Jan 20. J Biol Chem. 2003. PMID: 12538651 Free article.
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC. Barnes AM, et al. Among authors: makareeva e. N Engl J Med. 2010 Feb 11;362(6):521-8. doi: 10.1056/NEJMoa0907705. Epub 2010 Jan 20. N Engl J Med. 2010. PMID: 20089953 Free PMC article.
41 results