| 1 | NME6, PREPL
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| Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression.
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| Kramer NJ, Prakash G, Isaac RS, Choquet K, Soto I, Petrova B, Merens HE, Kanarek N, Churchman LS.
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| Nat Cell Biol. Nov;25(11):1575-1589. doi: 10.1038/s41556-023-01244-3. Epub 2023 Sep 28. 2023
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| 2 | PREPL, PREPLDI
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| Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency.
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| Sayol-Torres L, Valenzuela MI, Tomasini R, Fernández-Alvarez P, Clemente M, Yeste D.
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| J Clin Res Pediatr Endocrinol. May 29;15(2):205-209. doi: 10.4274/jcrpe.galenos.2021.2021.0128. Epub 2021 Oct 25 2023
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| 3 | PREPL, PREPLDI
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| Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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| Rosier K, McDevitt MT, Smet J, Floyd BJ, Verschoore M, Marcaida MJ, Bingman CA, Lemmens I, Dal Peraro M, Tavernier J, Cravatt BF, Gounko NV, Vints K, Monnens Y, Bhalla K, Aerts L, Rashan EH, Vanlander AV, Van Coster R, Régal L, Pagliarini DJ, Creemers JWM.
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| iScience. Nov 14;24(12):103460. doi: 10.1016/j.isci.2021.103460. 2021
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| 4 | PREPL, PREPLDI
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| PREPL deficiency: delineation of the phenotype and development of a functional blood assay
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| Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM.
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| Genet Med. Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. 2018
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| 5 | HCYS, PREPL
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| PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
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| Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG.
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| Neurology. Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7. 2014
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| 6 | PREPL
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| Deletion of PREPl causes growth impairment and hypotonia in mice.
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| Lone AM, Leidl M, McFedries AK, Horner JW, Creemers J, Saghatelian A
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| PLoS One. Feb 28;9(2):e89160. doi: 10.1371/journal.pone.0089160 2014
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| 7 | PREP, PREPL
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| Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons
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| Morawski M, Nuytens K, Juhasz T, Zeitschel U, Seeger G, Waelkens E, Regal L, Schulz I, Arendt T, Szeltner Z, Creemers J, Rossner S.
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| Neuroscience. Jul 9;242:128-39. doi: 10.1016/j.neuroscience.2013.02.038. Epub 2013 Feb 26. 2013
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| 8 | PREPL
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| PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.
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| Boonen K, Régal L, Jaeken J, Creemers JW.
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| CNS Neurol Disord Drug Targets. May;10(3):355-60. doi: 10.2174/187152711794653760. 2011
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| 9 | HCYS, PREPL, SLC3A1, C2orf34
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| Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
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| Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.
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| J Med Genet 45(5):314-8. Epub 2008 Jan 30. 2008
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| 10 | SLC3A1, PREPL, HCYS
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| Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
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| 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.
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| Eur J Hum Genet 15(10):1029-1033. Epub 2007 Jun 20. 2007
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| 11 | PREPL, HCYS
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| Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome.
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| Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, Zegher F, Creemers JW, Matthijs G.
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| Am J Hum Genet 78(1):38-51. Epub 2005 Nov 23. 2006
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| 12 | PREPL
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| PREPL: a putative novel oligopeptidase propelled into the limelight.
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| Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW.
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| Biol Chem 387(7):879-83. Review. 2006
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| 13 | HCYS,PPM1B,PREPL,SLC3A1
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| The 2p21 deletion syndrome: characterization of the transcription content.
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| Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K, Hershkovitz E.
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| Genomics 86(2):195-211. 2005
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| 14 | ADCY6, AP5Z1, APAF1, ATG2A, ATMIN, BSN, CACNA1G, CCNA1, CCP110, CCP110, CHD5, DENND4B, FEM1B, FLRT2, GPRASP1, HISPPD1, HSPA12A, HSPG2, KIAA0408, LKAP, LRRTM2, MBNL1, MTSS1, NEDD4, NUP58, PJA2, PREPL, RNMT, RRP8, SEC14L5, SGSM2, SH3PXD2A, SMG1, SRGAP2, TOGARAM1, TTI1, ZBTB24, ZHX3, ZMYM4, ZNF264, ZSCAN12, ZZEF1
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| Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.
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| Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
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| DNA Res 4(5):307-13. 1997
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