Article
PSD3 downregulation confers protection against fatty liver disease.
Nature metabolism - 1 Jan 2022
Mancina Rosellina M, Sasidharan Kavitha, Lindblom Anna, Wei Ying, Ciociola Ester, Jamialahmadi Oveis, Pingitore Piero, Andréasson Anne-Christine, Pellegrini Giovanni, Baselli Guido, Männistö Ville, Pihlajamäki Jussi, Kärjä Vesa, Grimaudo Stefania, Marini Ilaria, Maggioni Marco, Becattini Barbara, Tavaglione Federica, Dix Carly, Castaldo Marie, Klein Stephanie, Perelis Mark, Pattou Francois, Thuillier Dorothée, Raverdy Violeta, Dongiovanni Paola, Fracanzani Anna Ludovica, Stickel Felix, Hampe Jochen, Buch Stephan, Luukkonen Panu K, Prati Daniele, Yki-Järvinen Hannele, Petta Salvatore, Xing Chao, Schafmayer Clemens, Aigner Elmar, Datz Christian, Lee Richard G, Valenti Luca, Lindén Daniel, Romeo Stefano
Abstract excerpt
Fatty liver disease (FLD) is a growing health issue with burdening unmet clinical needs. FLD has a genetic component but, despite the common variants already identified, there is still a missing heritability component. Using a candidate gene approach, we identify a locus (rs71519934) at the Pleckstrin and Sec7 domain-containing 3 (PSD3) gene resulting in a leucine to threonine substitution at position 186 of the...
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