Article
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Acta neuropathologica - 31 Mar 2024
Correa-da-Silva Felipe, Carter Jenny, Wang Xin-Yuan, Sun Rui, Pathak Ekta, Kuhn José Manuel Monroy, Schriever Sonja C, Maya-Monteiro Clarissa M, Jiao Han, Kalsbeek Martin J, Moraes-Vieira Pedro M M, Gille Johan J P, Sinnema Margje, Stumpel Constance T R M, Curfs Leopold M G, Stenvers Dirk Jan, Pfluger Paul T, Lutter Dominik, Pereira Alberto M, Kalsbeek Andries, Fliers Eric, Swaab Dick F, Wilkinson Lawrence, Gao Yuanqing, Yi Chun-Xia
Abstract excerpt
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder of genetic etiology, characterized by paternal deletion of genes located at chromosome 15 in 70% of cases. Two distinct genetic subtypes of PWS deletions are characterized, where type I (PWS T1) carries four extra haploinsufficient genes compared to type II (PWS T2). PWS T1 individuals display more pronounced physiological and cognitive...
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