| Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis. | Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.
Duarte ML, Wang M, Gomes I, Liu C, Sharma A, Fakira AK, Gupta A, Mack SM, Zhang B, Devi LA., Free PMC Article | 07/6/2023 |
| A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. | A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A., Free PMC Article | 03/20/2021 |
| we report the first homozygous PREPL point mutation in a girl with typical PREPL deficiency. This syndrome should be considered in the differential diagnosis of hypotonic neonates exhibiting myasthenic symptoms, hyperphagia, and various degrees of ID. | The second point mutation in PREPL: a case report and literature review.
Silva S, Miyake N, Tapia C, Matsumoto N. | 09/22/2018 |
| Deletion of PREPL is associated with Hypotonia-cystinuria syndrome. | Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A. | 10/19/2013 |
| Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients. | Two novel deletions in hypotonia-cystinuria syndrome.
Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J. | 03/30/2013 |
| Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner. | Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.
Huang CC, Chang WS., Free PMC Article | 01/21/2010 |
| a deletion of PREPL causes atypical hypotonia-cystinuria syndrome | Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. | 01/21/2010 |
| Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. | Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
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., Free PMC Article | 01/21/2010 |
| Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency | PREPL: a putative novel oligopeptidase propelled into the limelight.
Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW. | 01/21/2010 |
| description of L-leucine transport into bladder carcinoma cells | Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells.
Kim DK, Kanai Y, Choi HW, Tangtrongsup S, Chairoungdua A, Babu E, Tachampa K, Anzai N, Iribe Y, Endou H. | 01/21/2010 |
| A 638-residue variant of PREPL, PREPL A, was identifiied, expressed in Escherichia coli and purified; its secondary structure was similar to that of oligopeptidase B. | The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity.
Szeltner Z, Alshafee I, Juhász T, Parvari R, Polgár L. | 01/21/2010 |