8RFB
Cryo-EM structure of the R243C mutant of human Prolyl Endopeptidase-Like (PREPL) protein involved in Congenital myasthenic syndrome-22 (CMS22)
Summary for 8RFB
| Entry DOI | 10.2210/pdb8rfb/pdb |
| Related | 7OBM |
| EMDB information | 19117 |
| Descriptor | Prolyl endopeptidase-like (1 entity in total) |
| Functional Keywords | thio-esterase, hydrolase |
| Biological source | Homo sapiens (human) |
| Total number of polymer chains | 1 |
| Total formula weight | 73477.40 |
| Authors | Theodoropoulou, A.,Cavani, E.,Antanasijevic, A.,Marcaida, M.J.,Dal Peraro, M. (deposition date: 2023-12-12, release date: 2024-09-04, Last modification date: 2024-10-09) |
| Primary citation | Monnens, Y.,Theodoropoulou, A.,Rosier, K.,Bhalla, K.,Mahy, A.,Vanhoutte, R.,Meulemans, S.,Cavani, E.,Antanasijevic, A.,Lemmens, I.,Lee, J.A.,Spellicy, C.J.,Schroer, R.J.,Maselli, R.A.,Laverty, C.G.,Agostinis, P.,Pagliarini, D.J.,Verhelst, S.,Marcaida, M.J.,Rochtus, A.,Dal Peraro, M.,Creemers, J.W. Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions. JCI Insight, 9:-, 2024 Cited by PubMed: 39078710DOI: 10.1172/jci.insight.179276 PDB entries with the same primary citation |
| Experimental method | ELECTRON MICROSCOPY (4.01 Å) |
Structure validation
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