Article
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain : a journal of neurology - 14 Sept 2022
Scala Marcello, Nishikawa Masashi, Ito Hidenori, Tabata Hidenori, Khan Tayyaba, Accogli Andrea, Davids Laura, Ruiz Anna, Chiurazzi Pietro, Cericola Gabriella, Schulte Björn, Monaghan Kristin G, Begtrup Amber, Torella Annalaura, Pinelli Michele, Denommé-Pichon Anne Sophie, Vitobello Antonio, Racine Caroline, Mancardi Maria Margherita, Kiss Courtney, Guerin Andrea, Wu Wendy, Gabau Vila Elisabeth, Mak Bryan C, Martinez-Agosto Julian A, Gorin Michael B, Duz Bugrahan, Bayram Yavuz, Carvalho Claudia M B, Vengoechea Jaime E, Chitayat David, Tan Tiong Yang, Callewaert Bert, Kruse Bernd, Bird Lynne M, Faivre Laurence, Zollino Marcella, Biskup Saskia, Striano Pasquale, Nigro Vincenzo, Severino Mariasavina, Capra Valeria, Costain Gregory, Nagata Koh Ichi
Abstract excerpt
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements,...
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