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Molecular regulatory mechanism of human myosin-7a.
Holló A, Billington N, Takagi Y, Kengyel A, Sellers JR, Liu R. Holló A, et al. J Biol Chem. 2023 Oct;299(10):105243. doi: 10.1016/j.jbc.2023.105243. Epub 2023 Sep 9. J Biol Chem. 2023. PMID: 37690683 Free PMC article.
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.
Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, Riazuddin S, Ahmed ZM, Hinshaw JE, Sellers J, Bartles JR, Hammer JA 3rd, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB. Kitajiri S, et al. Cell. 2010 May 28;141(5):786-98. doi: 10.1016/j.cell.2010.03.049. Cell. 2010. PMID: 20510926 Free PMC article.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Jenkinson EM, et al. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541340 Free PMC article.