ArticleJournal of molecular medicine (Berlin, Germany)2010
The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.
Article in Journal of molecular medicine (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 29 citations in OpenAlex.
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- The C2H2 Zinc Finger Protein MaNCP1 Contributes to Conidiation through Governing the Nitrate Assimilation Pathway in the Entomopathogenic FungusJournal of fungi (Basel, Switzerland) · 2022Article
- Comparative transcriptomics and bioinformatics analysis of genes related to photosynthesis inPeerJ · 2022Article
- Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support.Orphanet journal of rare diseases · 2021Article
- Review
- Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.Journal of inherited metabolic disease · 2019Article
- The return of metabolism: biochemistry and physiology of the pentose phosphate pathway.Biological reviews of the Cambridge Philosophical Society · 2015Review
- Monitoring protein expression in whole-cell extracts by targeted label- and standard-free LC-MS/MS.Nature protocols · 2011Article
- Article
- Systems-level characterization of a host-microbe metabolic symbiosis in the mammalian gut.Gut microbesArticle
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 (RPI(Ala61Val)) allele. Here, we report that two patient-derived cell lines differ in RPI enzyme activity, enzyme concentration, and mRNA expression. Furthermore, we present a transgenic yeast model, which exhibits metabolite- and enzyme-activity changes that correspond to the human syndrome and show that the decrease in RPI activity in patient cells is not fully attributable to the residue exchange. Taken together, our results demonstrate that RPI deficiency is caused by the combination of a RPI null allele with an allele that encodes for a partially active enzyme which has, in addition, cell-type-dependent expression deficits. We speculate that a low probability for comparable traits accounts for the rareness of RPI deficiency.
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