Patient-derived iPSC modeling of Prader-Willi syndrome
Simone Alberti, Irina Cutei, Edoardo Bellini, Roberta Pajno, Graziano Barera, Mirko Luoni, Gaia Colasante, Angelo Iannielli, Monica Zanussi, Paola Carrera, Alicia Rubio, Vania Broccoli · FENS Forum 2024
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder, characterized by hyperphagia, developmental delay and cognitive deficits. The PWS genomic locus (15q11-q13) is maternally imprinted and the pathology arises when the paternal genome copy is deleted, with maternal uniparental disomy of chromosome 15 or imprinting defects. This genomic locus harbors different C/D box small nucleolar RNAs (SNORDs) that feature short transcripts usually involved in post-transcriptional modifications of rRNA. In particular, SNORD116 is included in the majority of the disease-causing chromosomal deletions
ePoster · Neuroscience