Name : Cryo-EM structure of the R243C mutant of human Prolyl Endopeptidase-Like (PREPL) protein involved in Congenital myasthenic syndrome-22 (CMS22)
Revelation date : 04-Sep-2024
Family : S9N_PREPL_Peptidase_S9
Gene_locus : human-PREPL
PDB file : ESTHER: header of PDB entry RCSB: Full entry
Comment
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. The reconstructed map of PREPL Arg243C has been deposited to the Electron Microscopy Data Bank (EMDB) with the accession number EMD-19117
Ligand : Ligand in structure: Ligplot
Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
Ref : JCI Insight , : , 2024 |
Abstract : |
PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
PubMedID: 39078710 |
Gene_locus related to this paper: human-PREPL |
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