Topic
Hyperprolinemia
About: Hyperprolinemia is a research topic. Over the lifetime, 133 publications have been published within this topic receiving 3785 citations. The topic is also known as: hyperprolinemia.
Papers published on a yearly basis
Papers
TL;DR: The role of three isozymic versions of PYCR was addressed in human melanoma cells by tracking the fate of 13C-labeled precursors, providing the first clarification of the role of PyCRs to proline biosynthesis.
Abstract: Proline metabolism is linked to hyperprolinemia, schizophrenia, cutis laxa, and cancer. In the latter case, tumor cells tend to rely on proline biosynthesis rather than salvage. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). Here, the role of three isozymic versions of PYCR was addressed in human melanoma cells by tracking the fate of 13C-labeled precursors. Based on these studies we conclude that PYCR1 and PYCR2, which are localized in the mitochondria, are primarily involved in conversion of glutamate to proline. PYCRL, localized in the cytosol, is exclusively linked to the conversion of ornithine to proline. This analysis provides the first clarification of the role of PYCRs to proline biosynthesis.
143 citations
TL;DR: Clinical, genetic and biochemical studies of a family with cerebral dysfunction, congenital renal anomalies and a defect in the metabolism of the amino acid L-proline are presented.
Abstract: This report presents clinical, genetic and biochemical studies of a family with cerebral dysfunction, congenital renal anomalies and a defect in the metabolism of the amino acid L-proline. In addit...
136 citations
122 citations
TL;DR: The results suggest that endogenous extracellular proline regulates the basal function of some glutamate synapses by maintaining them in a partially potentiated state, and may facilitate understanding of the seizures and/or mental retardation associated with genetic disorders of proline metabolism.
108 citations
TL;DR: Delta1-pyrroline 5-carboxylate dehydrogenase genes from four patients with hyperprolinemia type II are surveyed using RT-PCR amplification, genomic PCR amplification and direct sequencing for the first description of the molecular basis for this inborn error.
Abstract: We surveyed Delta1-pyrroline 5-carboxylate dehydrogenase genes from four patients with hyperprolinemia type II using RT-PCR amplification, genomic PCR amplification and direct sequencing. We found four mutant alleles, two with frameshift mutations [A7fs(-1) and G521fs(+1)] and two with missense mutations (S352L and P16L). To test the functional consequences of three of these, we expressed them in a P5CDh-deficient strain of Saccharomyces cerevisiae . In contrast to wild-type human P5CDh, yeast expressing S352L and G521fs(+1) failed to grow on proline and had no detectable P5CDh activity. The P16L allele, however, produced fully functional P5CDh and subsequent analysis suggests that it is polymorphic in the relevant (Spanish) population. Interestingly, the G521fs(+1) allele segregates in the large Irish Traveller pedigree used to define the HPII phenotype. To our knowledge, this is the first description of the molecular basis for this inborn error.
100 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2021 | 6 |
| 2018 | 5 |
| 2017 | 5 |
| 2016 | 1 |
| 2015 | 2 |
| 2014 | 5 |