| 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 |
| Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254 |
| Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG |
| Ref : Neurology , 82 :1254 , 2014 |
| Abstract : |
| PubMedSearch : Regal_2014_Neurology_82_1254 |
| PubMedID: 24610330 |
| Gene_locus related to this paper: human-PREPL |
| Title : Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit 1A - Radhakrishnan_2013_J.Cell.Sci_126_1155 |
| Author(s) : Radhakrishnan K , Baltes J , Creemers JW , Schu P |
| Ref : Journal of Cell Science , 126 :1155 , 2013 |
| Abstract : |
| PubMedSearch : Radhakrishnan_2013_J.Cell.Sci_126_1155 |
| PubMedID: 23321636 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients - Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| Author(s) : Boonen K , Regal L , Jaeken J , Creemers JW |
| Ref : CNS Neurol Disord Drug Targets , 10 :355 , 2011 |
| Abstract : |
| PubMedSearch : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
| PubMedID: 21222627 |
| Gene_locus related to this paper: human-PREPL |
| Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2009_BMJ.Case.Rep_2009_ |
| Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
| Ref : BMJ Case Rep , 2009 : , 2009 |
| Abstract : |
| PubMedSearch : Chabrol_2009_BMJ.Case.Rep_2009_ |
| PubMedID: 21686663 |
| Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314 |
| Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
| Ref : Journal of Medical Genetics , 45 :314 , 2008 |
| Abstract : |
| PubMedSearch : Chabrol_2008_J.Med.Genet_45_314 |
| PubMedID: 18234729 |
| Gene_locus related to this paper: human-PREPL |
| Title : Multi-system disorder syndromes associated with cystinuria type I - Martens_2008_Curr.Mol.Med_8_544 |
| Author(s) : Martens K , Jaeken J , Matthijs G , Creemers JW |
| Ref : Curr Mol Med , 8 :544 , 2008 |
| Abstract : |
| PubMedSearch : Martens_2008_Curr.Mol.Med_8_544 |
| PubMedID: 18781961 |
| Gene_locus related to this paper: human-PREPL |
| Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029 |
| Author(s) : Martens K , Heulens I , Meulemans S , Zaffanello M , Tilstra D , Hes FJ , Rooman R , Francois I , de Zegher F , Jaeken J , Matthijs G , Creemers JW |
| Ref : Eur J Hum Genet , 15 :1029 , 2007 |
| Abstract : |
| PubMedSearch : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| PubMedID: 17579669 |
| Gene_locus related to this paper: human-PREPL |
| Title : Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome - Jaeken_2006_Am.J.Hum.Genet_78_38 |
| Author(s) : Jaeken J , Martens K , Francois I , Eyskens F , Lecointre C , Derua R , Meulemans S , Slootstra JW , Waelkens E , de Zegher F , Creemers JW , Matthijs G |
| Ref : American Journal of Human Genetics , 78 :38 , 2006 |
| Abstract : |
| PubMedSearch : Jaeken_2006_Am.J.Hum.Genet_78_38 |
| PubMedID: 16385448 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL: a putative novel oligopeptidase propelled into the limelight - Martens_2006_Biol.Chem_387_879 |
| Author(s) : Martens K , Derua R , Meulemans S , Waelkens E , Jaeken J , Matthijs G , Creemers JW |
| Ref : Biol Chem , 387 :879 , 2006 |
| Abstract : |
| PubMedSearch : Martens_2006_Biol.Chem_387_879 |
| PubMedID: 16913837 |
| Gene_locus related to this paper: human-PREPL |