De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons
Tomoki T. Nomakuchi, Alyssa L. Rippert, Sabrina A. Santos De Leon…·Elizabeth J. K. Bhoj
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Radboud University Medical CenterORCID 0000-0003-4350-8106Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
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Tomoki T. Nomakuchi, Alyssa L. Rippert, Sabrina A. Santos De Leon…·Elizabeth J. K. Bhoj
Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh…·Tianyun Wang
The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.
Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt…·Christian Gilissen
This study identifies 10 novel candidate genes for intellectual disability through a meta-analysis of de novo mutations from 2,104 trios.