Article
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Nature communications - 21 Nov 2024
Zanetti Andrea, Dujardin Gwendal, Fares-Taie Lucas, Amiel Jeanne, Roger Jérôme E, Audo Isabelle, Robert Matthieu P, David Pierre, Jung Vincent, Goudin Nicolas, Guerrera Ida Chiara, Moriceau Stéphanie, Amana Danielle, Assia Batzir Nurit, Bachar-Zipori Anat, Basel Salmon Lina, Boddaert Nathalie, Briault Sylvain, Bruel Ange-Line, Costet-Fighiera Christine, Coutinho Santos Luisa, Gitiaux Cyril, Kaminska Karolina, Kuentz Paul, Orenstein Naama, Philip-Sarles Nicole, Plutino Morgane, Quinodoz Mathieu, Santos Cristina, Sigaudy Sabine, Soeiro E Sá Mariana, Sofrin Efrat, Sousa Ana Berta, Sousa-Luis Rui, Thauvin-Robinet Christel, van Dijk Erwin L, Zaafrane-Khachnaoui Khaoula, Zur Dinah, Kaplan Josseline, Rivolta Carlo, Rozet Jean-Michel, Perrault Isabelle
Abstract excerpt
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the...
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