The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency

@article{Wamelink2010TheDB,
  title={The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency},
  author={M. Wamelink and Nana-Maria Gr{\"u}ning and E. Jansen and K. Bluemlein and H. Lehrach and C. Jakobs and M. Ralser},
  journal={Journal of Molecular Medicine},
  year={2010},
  volume={88},
  pages={931-939}
}
Ribose 5-phosphate isomerase (RPI) deficiency is an enzymopathy of the pentose phosphate pathway. It manifests with progressive leukoencephalopathy and peripheral neuropathy and belongs, with one sole diagnosed case, to the rarest human disorders. The single patient was found compound heterozygous for a RPI frameshift and a missense (RPIAla61Val) allele. Here, we report that two patient-derived cell lines differ in RPI enzyme activity, enzyme concentration, and mRNA expression. Furthermore, we… Expand
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References

SHOWING 1-10 OF 23 REFERENCES
Triosephosphate isomerase deficiency: historical perspectives and molecular aspects.
  • A. S. Schneider
  • Biology, Medicine
  • Bailliere's best practice & research. Clinical haematology
  • 2000
  • 102
Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans
  • 13
  • PDF
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
  • 88
  • PDF
Triosephosphate isomerase deficiency: new insights into an enigmatic disease.
  • 102
  • PDF
Transaldolase deficiency in two new patients with a relative mild phenotype.
  • 25
Glucose-6-phosphate dehydrogenase deficiency
  • 758
  • PDF
Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
  • 93
  • PDF
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A review
  • 223
  • PDF
...
1
2
3
...