Article
Loss of Snord116 alters cortical neuronal activity in mice: a preclinical investigation of Prader-Willi syndrome.
Human molecular genetics - 29 Jul 2020
Pace Marta, Colombi Ilaria, Falappa Matteo, Freschi Andrea, Bandarabadi Mojtaba, Armirotti Andrea, Encarnación Blanco María, Adamantidis Antoine R, Amici Roberto, Cerri Matteo, Chiappalone Michela, Tucci Valter
Abstract excerpt
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder that is characterized by metabolic alteration and sleep abnormalities mostly related to rapid eye movement (REM) sleep disturbances. The disease is caused by genomic imprinting defects that are inherited through the paternal line. Among the genes located in the PWS region on chromosome 15 (15q11-q13), small nucleolar RNA 116 (Snord116) has been...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
