DeCure for Hypoxanthine guanine phosphoribosyltransferase partial deficiency
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hypoxanthine guanine phosphoribosyltransferase partial deficiency — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHypoxanthine guanine phosphoribosyltransferase partial deficiency maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for hypoxanthine guanine phosphoribosyltransferase partial deficiency is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
hypoxanthine phosphoribosyltransferase 1 (HPRT1) — HPRT1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet 3~{r},4~{r}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5HIA · 1.773 Å · ligand [3-[(3~{R},4~{R})-3-(2-azanyl-6-oxidanylidene-1~{H}-purin-9-yl)-4-[(2~{S})-2-oxidanyl-2-phosphono-ethoxy]pyrrolidin-1-y
l]-3-oxidanylidene-propyl]phosphonic acid (YPG). Experimental structure, not a prediction.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
PEDIATRICS · 1987 · 19 citations
Syndrome of Mild Mental Retardation, Spastic Gait, and Skeletal Malformations in a Family With Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase
AbstractA syndrome has been observed in a kindred with deficient activity of hypoxanthine-guanine phosphoribosyltransferase in which affected hemizygotes have had mild mental retardation, a spastic gait, pyramidal tract signs, shortness of stature, proximally placed thumbs and clinodactyly of the fifth fingers. Activity of the enzyme was virtually zero in lysates of erythrocytes or hair roots, but in intact fibroblasts, the level of activity was 7.5% of normal, placing this variant in a group distinct from any previously studied. Kinetic studies revealed a Michaelis constant for hypoxanthine that was also different from other enzymes studied. These observations indicate the presence in this kindred of a distinct variant of hypoxanthine-guanine phosphoribosyltransferase.
Internal Medicine · 1998 · 9 citations · open access
Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase Manifesting as Acute Renal Damage.
AbstractA 32-year-old man who had had frequent gouty arthritis over the past 17 years, was admitted for acute renal failure. Acute renal failure was improved rapidly after medication was resumed and the patient was sufficiently hydrated. The hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity in the patient had been reduced to about 30% of the normal control. Therefore we considered that this patient suffered from a partial deficiency of HPRT. A point mutation of HPRT gene 68G (guanine) to T (thymine) was detected. This is a mutation that has not been previously reported. Familial analysis indicated that his mother and sister were heterozygotes.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
