| 1 | CUL3, KBTBD13
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| KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
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| Sambuughin N, Swietnicki W, Techtmann S, Matrosova V, Wallace T, Goldfarb L, Maynard E.
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| Biochem Biophys Res Commun 421(4):743-9. doi: 10.1016/j.bbrc.2012.04.074. Epub 2012 Apr 20.
2012
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| 2 | KBTBD13, NEM6
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| Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
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| Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG.
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| Am J Hum Genet 87(6):842-7. Epub 2010 Nov 25.PMID: 21109227 2010
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| 3 | KBTBD13, NEM6
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| Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
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| Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG.
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| Am J Hum Genet 87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Erratum in: Am J Hum Genet. 2011 Jan 7;88(1):122.
2010
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