Prolyl Endopeptidase Like Protein Proteine (PREPL)

Human Prolyl Endopeptidase Like Protein (PREPL) Interaktionspartner

1. 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.

2. Deletion of PREPL is associated with Hypotonia-cystinuria syndrome.

3. Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients.

4. description of L-leucine transport into bladder carcinoma cells

5. 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.

6. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

7. Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency

8. a deletion of PREPL causes atypical hypotonia-cystinuria syndrome

9. 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.

Mouse (Murine) Prolyl Endopeptidase Like Protein (PREPL) Interaktionspartner

1. The data demonstrate PREPL as an AP-1 effector that takes part in the regulation of AP-1 membrane binding. PREPL is highly expressed in brain and at lower levels in muscle and kidney.