PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
Wallid Deb(Centre National de la Recherche Scientifique), Frédéric Ebstein(Centre National de la Recherche Scientifique)
Cited by 8
Related Papers
Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis
|Frontiers in Molecular Neuroscience|2021|48
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
|Science Translational Medicine|2023|36
<i>ALG13</i> X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
|Journal of Inherited Metabolic Disease|2021|29
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
|The American Journal of Human Genetics|2025|5