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Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112
The genetic and biochemical basis of FANCD2 monoubiquitination.
Rajendra E, Oestergaard VH, Langevin F, Wang M, Dornan GL, Patel KJ, Passmore LA. Rajendra E, et al. Among authors: passmore la. Mol Cell. 2014 Jun 5;54(5):858-69. doi: 10.1016/j.molcel.2014.05.001. Mol Cell. 2014. PMID: 24905007 Free PMC article.
Activation of the Endonuclease that Defines mRNA 3' Ends Requires Incorporation into an 8-Subunit Core Cleavage and Polyadenylation Factor Complex.
Hill CH, Boreikaitė V, Kumar A, Casañal A, Kubík P, Degliesposti G, Maslen S, Mariani A, von Loeffelholz O, Girbig M, Skehel M, Passmore LA. Hill CH, et al. Among authors: passmore la. Mol Cell. 2019 Mar 21;73(6):1217-1231.e11. doi: 10.1016/j.molcel.2018.12.023. Epub 2019 Feb 5. Mol Cell. 2019. PMID: 30737185 Free PMC article.
Structure of the Fanconi anaemia monoubiquitin ligase complex.
Shakeel S, Rajendra E, Alcón P, O'Reilly F, Chorev DS, Maslen S, Degliesposti G, Russo CJ, He S, Hill CH, Skehel JM, Scheres SHW, Patel KJ, Rappsilber J, Robinson CV, Passmore LA. Shakeel S, et al. Among authors: passmore la. Nature. 2019 Nov;575(7781):234-237. doi: 10.1038/s41586-019-1703-4. Epub 2019 Oct 30. Nature. 2019. PMID: 31666700 Free PMC article.
69 results