Article
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
American journal of human genetics - 6 Nov 2025
Planas-Serra Laura, Rodríguez-Ruiz Mar, Anderson Eric Nathaniel, Rodríguez-Palmero Agustí, Vélez-Santamaria Valentina, Schlüter Agatha, Verdura Edgard, Gereñu Gorka, Jiménez-Zúñiga Andrés, Iñañez Alejandro, Casas Josefina, Bech Joan Josep, De La Torre Carolina, Martínez Juan José, Ruiz Montserrat, Fourcade Stéphane, Iascone Maria, Tenconi Romano, Meier Kolja, Diegmann Susann, Lee Reagan H C, Beland Bakht, Mir Asif, Darvish Hossein, Chung Wendy, Karimiani Ehsan Ghayoor, Leal Suzanne M, Schrauwen Isabelle, Öhman Susanna, Järvelä Irma, Granvik Johanna, Reinson Karit, Kurvinen Elvira, Õunap Katrin, Schwan Annemarie, Platzer Konrad, Kalayci Tuğba, Sharifi Shahrashoub, Korenke G Christoph, Houlden Henry, Maroofian Reza, López de Munaín Adolfo, Casasnovas Carlos, Pandey Udai Bhan, Pujol Aurora
Abstract excerpt
The ribosomal protein S6 kinase family members play essential biological functions in disease, from cancer to intellectual disability. Little is known about ribosomal proteins S6 kinase C1 (RPS6KC1), aside from its lack of phosphorylation capacity and its roles in sphingosine-1-phosphate signaling and peroxiredoxin-3 (PRDX3) transport to mitochondria. Through whole-exome sequencing, we identified bi-allelic...
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