PathWhiz

PathWhiz ID	Pathway	Meta Data
PW121840 View Pathway	disease Ribose-5-phosphate Isomerase Deficiency Mus musculus Ribose-5-phosphate isomerase (RPI) deficiency, is a genetic disorder caused by mutations in the RPIA gene that codes for RPI. RPI is an enzyme that is involved in the pentose phosphate pathway as part of carbohydrate degradation. It reversibly converts D-ribulose 5-phosphate into D-ribose 5-phosphate. In the case of this disorder, RPI functions partially in tissues, because if the gene was simply non-functional, it would likely be lethal. This means that a specific type of mutation needs to occur for this disorder to occur, leading to it being the rarest disease in the world, with only three confirmed cases. In the first known case, the patient had one allele containing a frameshift mutation, which led to a truncated protein, while the other allele contained a missense mutation. This combination meant that activity of RPI was found to vary across tissues and cell types. Characteristics of the RPI deficiency include higher ribitol and arabitol levels in a metabolic profile, as well as differences in polyol profiles. There are other symptoms, including leukoencephalopathy and neuropathy, which may be caused by a toxic accumulation of ribitol and arabitol, or a potential lack of ribose-5-phosphate in RNA synthesis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW000495 View Pathway	disease Ribose-5-phosphate Isomerase Deficiency Homo sapiens Ribose-5-phosphate isomerase (RPI) deficiency, is a genetic disorder caused by mutations in the RPIA gene that codes for RPI. RPI is an enzyme that is involved in the pentose phosphate pathway as part of carbohydrate degradation. It reversibly converts D-ribulose 5-phosphate into D-ribose 5-phosphate. In the case of this disorder, RPI functions partially in tissues, because if the gene was simply non-functional, it would likely be lethal. This means that a specific type of mutation needs to occur for this disorder to occur, leading to it being the rarest disease in the world, with only three confirmed cases. In the first known case, the patient had one allele containing a frameshift mutation, which led to a truncated protein, while the other allele contained a missense mutation. This combination meant that activity of RPI was found to vary across tissues and cell types. Characteristics of the RPI deficiency include higher ribitol and arabitol levels in a metabolic profile, as well as differences in polyol profiles. There are other symptoms, including leukoencephalopathy and neuropathy, which may be caused by a toxic accumulation of ribitol and arabitol, or a potential lack of ribose-5-phosphate in RNA synthesis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW127878 View Pathway	drug action Ribostamycin Action Pathway Homo sapiens Ribostamycin is a broad-spectrum antibiotic on the list of WHO critical antimicrobials for human medicine. This drug is in the aminoglycosides antibiotic family. This is isolated from the bacteria called Streptomyces ribosidificus. Ribostamycin works by binding to the bacterial 30S ribosomal subunit, inhibiting the translocation of the peptidyl-tRNA from the A-site to the P-site and also causing misreading of mRNA. With this binding, the bacteria are unable to synthesize vital proteins for its growth. However, their exact mechanism of action is not fully known. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Daphnee Created On: June 14, 2023 at 12:21 Last Updated: June 14, 2023 at 12:21
PW145536 View Pathway	drug action Ribostamycin Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 16:01 Last Updated: October 07, 2023 at 16:01
PW124263 View Pathway	protein Rice Oryza sativa subsp. japonica BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: October 22, 2020 at 12:24 Last Updated: October 22, 2020 at 12:24
PW131001 View Pathway	metabolic Rice bran Drug Metabolism Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Selena Created On: September 14, 2023 at 23:38 Last Updated: September 14, 2023 at 23:38
PW144730 View Pathway	drug action Rifabutin Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 14:19 Last Updated: October 07, 2023 at 14:19
PW176401 View Pathway	metabolic Rifampicin Predicted Metabolism Pathway Homo sapiens Metabolites of Rifampicin are predicted with biotransformer. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Omolola Created On: December 07, 2023 at 16:51 Last Updated: December 07, 2023 at 16:51
PW147013 View Pathway	metabolic Rifampin Drug Metabolism Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 10, 2023 at 13:39 Last Updated: October 10, 2023 at 13:39
PW146444 View Pathway	drug action Rifamycin Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 18:13 Last Updated: October 07, 2023 at 18:13