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Topic: whole-exome sequencing

ePoster
1 ePoster

In Neuroscience

A comprehensive functional and omics approach in patient-derived dopaminergic neurons identified a specific molecular signature associated with novel Parkinson’s disease candidate genes

Giorgio Fortunato, Federica Carrillo, Katiuscia Martinello, Laura Ianiro, Nicole Piera Palomba, Antonietta Di Lorenzo, Nicola Modugno, Sara Pietracupa, Alessandro Fiorenzano, Annalisa Fico, Danilo Licastro, Marcello Manfredi, Sergio Fucile, Teresa Esposito · FENS Forum 2024

Genetic understanding of Parkinson’s disease (PD) is quickly increasing with the emerge of the next-generation sequencing (NGS). Using whole-exome sequencing analyses we recently discovered a polygenic model of inheritance associated with familial and sporadic PD. The aim of this study was to explore the functional role of the most promising genetic variants in a large set of human iPSC-derived dopaminergic neurons.We investigated the presence of alterations at molecular level by an integrated omics (transcriptomic, proteomic and lipidomic) approach in mesencephalic dopaminergic (mdDA) neurons

ePoster · Neuroscience