PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

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 homeostasi...

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Bibliographic Details
Published in:	American journal of human genetics Vol. 111; no. 7; p. 1352
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	United States 11.07.2024
Subjects:	Adolescent Animals Child Child, Preschool Drosophila melanogaster - genetics Female Humans Intellectual Disability - genetics Interferons - genetics Interferons - metabolism Loss of Function Mutation Male Neurodevelopmental Disorders - genetics Obesity - genetics Phenotype Proteasome Endopeptidase Complex - genetics Proteasome Endopeptidase Complex - metabolism
ISSN:	1537-6605, 1537-6605
Online Access:	Get more information
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