Catherine M. Abbott
Affiliations: | Neuroscience | University of Edinburgh, Edinburgh, Scotland, United Kingdom |
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Publications
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Davies FCJ, Hope JE, McLachlan F, et al. (2020) Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function. Human Molecular Genetics |
Idigo NJ, Soares DC, Abbott CM. (2020) Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish. Bioscience Reports. 40 |
McLachlan F, Sires AM, Abbott CM. (2018) The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders. Human Mutation |
Davies FC, Hope JE, McLachlan F, et al. (2017) Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. Scientific Reports. 7: 46019 |
Lam WW, Millichap JJ, Soares DC, et al. (2016) Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Molecular Genetics & Genomic Medicine. 4: 465-74 |
Cao Y, Portela M, Janikiewicz J, et al. (2014) Characterisation of translation elongation factor eEF1B subunit expression in mammalian cells and tissues and co-localisation with eEF1A2. Plos One. 9: e114117 |
Doig J, Griffiths LA, Peberdy D, et al. (2013) In vivo characterization of the role of tissue-specific translation elongation factor 1A2 in protein synthesis reveals insights into muscle atrophy. The Febs Journal. 280: 6528-40 |
Griffiths LA, Doig J, Churchhouse AM, et al. (2012) Haploinsufficiency for translation elongation factor eEF1A2 in aged mouse muscle and neurons is compatible with normal function. Plos One. 7: e41917 |
Newbery HJ, Stancheva I, Zimmerman LB, et al. (2011) Evolutionary importance of translation elongation factor eEF1A variant switching: eEF1A1 down-regulation in muscle is conserved in Xenopus but is controlled at a post-transcriptional level. Biochemical and Biophysical Research Communications. 411: 19-24 |
Li Z, Qi CF, Shin DM, et al. (2010) Eef1a2 promotes cell growth, inhibits apoptosis and activates JAK/STAT and AKT signaling in mouse plasmacytomas. Plos One. 5: e10755 |