| 1 | IDOD, PSMD12 |
| De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. | |
| Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceńo I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. | |
| Am J Hum Genet 100(2):352-363. doi: 10.1016/j.ajhg.2017.01.003. 2017 | |
| 2 | FUS, PSMD12, SFPQ, UBA1, VCP |
| Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. | |
| Wang T, Jiang X, Chen G, Xu J. | |
| Neurobiol Aging 36(1):527-35. doi: 10.1016/j.neurobiolaging.2014.07.044. 2015 | |
| 3 | PSMD11, PSMD12 |
| cDNA cloning and functional analysis of p44.5 and p55, two regulatory subunits of the 26S proteasome | |
| Saito A, Watanabe TK, Shimada Y, Fujiwara T, Slaughter CA, DeMartino GN, Tanahashi N, Tanaka K. | |
| Gene 203(2):241-50. 1997 | |