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HERC3 binding to and regulation by ubiquitin.
Cruz C, Ventura F, Bartrons R, Rosa JL. Cruz C, et al. Among authors: rosa jl. FEBS Lett. 2001 Jan 12;488(1-2):74-80. doi: 10.1016/s0014-5793(00)02371-1. FEBS Lett. 2001. PMID: 11163799 Free article.
The RCC1 superfamily: from genes, to function, to disease.
Hadjebi O, Casas-Terradellas E, Garcia-Gonzalo FR, Rosa JL. Hadjebi O, et al. Among authors: rosa jl. Biochim Biophys Acta. 2008 Aug;1783(8):1467-79. doi: 10.1016/j.bbamcr.2008.03.015. Epub 2008 Apr 10. Biochim Biophys Acta. 2008. PMID: 18442486 Free article. Review.
Mutation of HERC2 causes developmental delay with Angelman-like features.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. Harlalka GV, et al. Among authors: rosa jl. J Med Genet. 2013 Feb;50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. J Med Genet. 2013. PMID: 23243086
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L. Nguyen LS, et al. Among authors: rosa jl. Eur J Hum Genet. 2016 Mar;24(3):455-8. doi: 10.1038/ejhg.2015.140. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153217 Free PMC article.
159 results