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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.
The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination.
Cubillos-Rojas M, Schneider T, Hadjebi O, Pedrazza L, de Oliveira JR, Langa F, Guénet JL, Duran J, de Anta JM, Alcántara S, Ruiz R, Pérez-Villegas EM, Aguilar-Montilla FJ, Carrión ÁM, Armengol JA, Baple E, Crosby AH, Bartrons R, Ventura F, Rosa JL. Cubillos-Rojas M, et al. Among authors: rosa jl. Oncotarget. 2016 Aug 30;7(35):56083-56106. doi: 10.18632/oncotarget.11270. Oncotarget. 2016. PMID: 27528230 Free PMC article.
HERC Ubiquitin Ligases in Cancer.
Sala-Gaston J, Martinez-Martinez A, Pedrazza L, Lorenzo-Martín LF, Caloto R, Bustelo XR, Ventura F, Rosa JL. Sala-Gaston J, et al. Among authors: rosa jl. Cancers (Basel). 2020 Jun 22;12(6):1653. doi: 10.3390/cancers12061653. Cancers (Basel). 2020. PMID: 32580485 Free PMC article. Review.
159 results