| 1 | FBXL4, MTDPS13
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| Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance.
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| Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW.
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| Am J Hum Genet 93(3):471-81. doi: 10.1016/j.ajhg.2013.07.017. Epub 2013 Aug 29.
2013
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| 2 | FBXL4, MTDPS13
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| Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy.
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| Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M.
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| Am J Hum Genet m J Hum Genet. 2013 2013
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| 3 | CUL1, FBXL4, KDM4A
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| The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein.
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| Van Rechem C, Black JC, Abbas T, Allen A, Rinehart CA, Yuan GC, Dutta A, Whetstine JR.
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| J Biol Chem 286(35):30462-70. Epub 2011 Jul 8.
2011
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| 4 | BTRC, FBXL2, FBXO16, FBXW5, FBXL3, FBXL21, FBXL4, FBXL5, FBXL6, FBXL7, LRRC29, FBXO10, FBXO11, LMO7, FBXO21, FBXO22, FBXO24, FBXO25, FBXO3, FBXO4, FBXO5, FBXO6, FBXO7, FBXO8, FBXO9, FBXW11, SHFM3P1, FBXW8
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| Identification of a family of human F-box proteins.
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| Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M, Pagano M.
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| Curr Biol 9(20):1177-9. 1999
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