Article
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
American journal of human genetics - 2 Apr 2020
Mao Dongxue, Reuter Chloe M, Ruzhnikov Maura R Z, Beck Anita E, Farrow Emily G, Emrick Lisa T, Rosenfeld Jill A, Mackenzie Katherine M, Robak Laurie, Wheeler Matthew T, Burrage Lindsay C, Jain Mahim, Liu Pengfei, Calame Daniel, Küry Sébastien, Sillesen Martin, Schmitz-Abe Klaus, Tonduti Davide, Spaccini Luigina, Iascone Maria, Genetti Casie A, Koenig Mary K, Graf Madeline, Tran Alyssa, Alejandro Mercedes, Lee Brendan H, Thiffault Isabelle, Agrawal Pankaj B, Bernstein Jonathan A, Bellen Hugo J, Chao Hsiao-Tuan
Abstract excerpt
EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants...
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