Article
N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells.
Neurobiology of learning and memory - 1 May 2020
Venkatasubramani Janani Priya, Subramanyam Prakash, Pal Rakhi, Reddy Bharath K, Srinivasan Durga Jeyalakshmi, Chattarji Sumantra, Iossifov Ivan, Klann Eric, Bhattacharya Aditi
Abstract excerpt
The ribosomal p70 S6 Kinase 1 (S6K1) has been implicated in the etiology of complex neurological diseases including autism, depression and dementia. Though no major gene disruption has been reported in humans in RPS6KB1, single nucleotide variants (SNVs) causing missense mutations have been identified, which have not been assessed for their impact on protein function. These S6K1 mutations have the potential to...
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