Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
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DOI: 10.1111/cge.14290
Abstract: Protein translation is an essential cellular process and dysfunctional protein translation causes various neurodevelopmental disorders. The eukaryotic translation elongation factor 1A (eEF1A) delivers aminoacyl‐tRNA to the ribosome, while the eEF1B complex acts as a guanine… read more here.
Keywords: neurodevelopmental disorders; domain; eef1d; guanine exchange ... See more keywords
Enhanced cGMP Interactor Rap Guanine Exchange Factor 4 (EPAC2) Expression and Activity in Degenerating Photoreceptors: A Neuroprotective Response?
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DOI: 10.3390/ijms23094619
Abstract: The disease retinitis pigmentosa (RP) leads to photoreceptor degeneration by a yet undefined mechanism(s). In several RP mouse models (i.e., rd mice), a high cyclic GMP (cGMP) level within photoreceptors is detected, suggesting that cGMP… read more here.
Keywords: guanine exchange; epac2 expression; rap guanine; degeneration ... See more keywords