Article
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
American journal of human genetics - 11 Jul 2024
Deb Wallid, Rosenfelt Cory, Vignard Virginie, Papendorf Jonas Johannes, Möller Sophie, Wendlandt Martin, Studencka-Turski Maja, Cogné Benjamin, Besnard Thomas, Ruffier Léa, Toutain Bérénice, Poirier Léa, Cuinat Silvestre, Kritzer Amy, Crunk Amy, diMonda Janette, Vengoechea Jaime, Mercier Sandra, Kleinendorst Lotte, van Haelst Mieke M, Zuurbier Linda, Sulem Telma, Katrínardóttir Hildigunnur, Friðriksdóttir Rún, Sulem Patrick, Stefansson Kari, Jonsdottir Berglind, Zeidler Shimriet, Sinnema Margje, Stegmann Alexander P A, Naveh Natali, Skraban Cara M, Gray Christopher, Murrell Jill R, Isikay Sedat, Pehlivan Davut, Calame Daniel G, Posey Jennifer E, Nizon Mathilde, McWalter Kirsty, Lupski James R, Isidor Bertrand, Bolduc François V, Bézieau Stéphane, Krüger Elke, Küry Sébastien, Ebstein Frédéric
Abstract excerpt
Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are large multi-subunit protein complexes that maintain cellular protein homeostasis by clearing ubiquitin-tagged damaged, misfolded, or unnecessary proteins. In this study, we have identified PSMD11...
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