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Frontiers in Immunology|August 21, 2023
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, et al.American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.Pageof 2