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UnknownDeletion of PREPl causes growth impairment and hypotonia in mice.
Not available
S-EPMC3938459 | biostudies-literature
ProteomicsRegulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression
Mitochondrial oxidative phosphorylation (OXPHOS) complexes are assembled from proteins encoded by both nuclear and mitochondrial DNA. These dual-origin enzymes pose a complex gene regulatory challenge for cells requiring coordinated gene expression across organelles. To identify genes involved in du...
ORGANISM(S): Homo sapiens (Human) 
2023-08-23 | PXD044812 | Pride
Ip-massspec K562 Prepl Nme6 
UnknownPREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.
Not available
S-EPMC4001208 | biostudies-literature
UnknownMissense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
Not available
S-EPMC11385081 | biostudies-literature
UnknownDeletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
Not available
S-EPMC1380222 | biostudies-literature
UnknownProlyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.
Not available
S-EPMC8634043 | biostudies-literature
TranscriptomicsSimilar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, feeding problems, growth retardation, and hyperphagia leading to r...
ORGANISM(S): Mus musculus 
2025-03-10 | GSE261165 | GEO
UnknownMultiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis.
Not available
S-EPMC10289242 | biostudies-literature
UnknownProlyl Endopeptidase-Like Facilitates the α-Synuclein Aggregation Seeding, and This Effect Is Reverted by Serine Peptidase Inhibitor PMSF.
Not available
S-EPMC7355856 | biostudies-literature
UnknownProlyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency
Not available
S-EPMC10234053 | biostudies-literature
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