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EMD-19117

Single-particle
4.01 Å
EMD-19117
3D View Gallery
Deposition: 12/12/2023
Map released: 04/09/2024
Last modified: 09/10/2024
Overview 3D View Sample Experiment Validation Additional data Links
Overview 3D View Sample Experiment Validation Additional data Links

EMD-19117
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3D volume (map.gz) Experimental metadata (xml) Experimental Metadata (cif.gz)
Map-only Validation report (pdf.gz) Map-only Validation report (cif.gz) Map-only Validation report (xml.gz)
Map and PDB model 8rfb summary report (pdf.gz) Map and 8rfb FULL report (pdf.gz)
EMICSS annotations (xml)

Cryo-EM structure of the R243C mutant of human Prolyl Endopeptidase-Like (PREPL) protein involved in Congenital myasthenic syndrome-22 (CMS22)

EMD-19117

Single-particle
4.01 Å
EMD-19117
3D View Gallery
Deposition: 12/12/2023
Map released: 04/09/2024
Last modified: 09/10/2024
Overview 3D View Sample Experiment Validation Additional data Links
Sample Organism: Homo sapiens
Sample: cryoEM structure of the R243C mutant of prolyl endopeptidase-like (PREPL) protein
Fitted models: 8rfb

Deposition Authors: Theodoropoulou A, Cavani E, Antanasijevic A, Marcaida MJ, Dal Peraro M
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
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
(2024) JCI Insight , 9
PUBMED: 39078710
DOI: doi:10.1172/jci.insight.179276
ISSN: 2379-3708
Grant Support: