Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function

Autor: Catherine M. Abbott, Laura Kaminioti-Dumont, Colin Smith, Josephine MacDonald, Faith C. J. Davies, Jilly E Hope, Francis Nunez, Grant F. Marshall, Fiona McLachlan, Owen Dando, Oliver Hardt, Vesa Qarkaxhija, Emma R. Wood

Publikováno v: Davies, F C J, Hope, J E, McLachlan, F, Marshall, G F, Kaminioti-Dumont, L, Qarkaxhija, V, Nunez, F, Dando, O, Smith, C, Wood, E, MacDonald, J, Hardt, O & Abbott, C M 2020, ' Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function ', Human Molecular Genetics, vol. 29, no. 10, pp. 1592–1606 . https://doi.org/10.1093/hmg/ddaa042

Heterozygous de novo mutations in EEF1A2, encoding the tissue-specific translation elongation factor eEF1A2, have been shown to cause neurodevelopmental disorders including often severe epilepsy and intellectual disability. The mutational profile is

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https://www.pure.ed.ac.uk/ws/files/138719673/D252H_paper_clean_manuscript_plus_figs.pdf