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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: crosby ah. Oncotarget. 2016 Aug 30;7(35):56083-56106. doi: 10.18632/oncotarget.11270. Oncotarget. 2016. PMID: 27528230 Free PMC article.
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: crosby ah. 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
PCNA mutation affects DNA repair not replication.
Green CM, Baple EL, Crosby AH. Green CM, et al. Among authors: crosby ah. Cell Cycle. 2014;13(20):3157-8. doi: 10.4161/15384101.2014.969994. Cell Cycle. 2014. PMID: 25485490 Free PMC article. No abstract available.
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH. Alakbarzade V, et al. Among authors: crosby ah. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005865
146 results