DeCure for Syndromic X-linked intellectual disability 5
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for syndromic X-linked intellectual disability 5 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSyndromic X-linked intellectual disability 5 maps to a 2-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 syndromic x-linked intellectual disability 5 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
cullin 4B (CUL4B) — CUL4B 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4A0C · 3.8 Å · ligand none (apo structure). 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.
Journal of Medical Genetics · 2002 · 43 citations · open access
A novel 2 bp deletion in the <i>TM4SF2</i> gene is associated with MRX58
AbstractX linked mental retardation (XLMR) represents around 5% of all MR, with a prevalence of 1 in 600 males.1,2 Fifteen to twenty percent of the total XLMR is the result of the fragile X syndrome.3 Non-fragile X mental retardation was subdivided into syndromal and non-syndromal conditions by Neri et al 4 in 1991. The syndromal XLMR entities (MRXS) are those in which there is a specific pattern of physical, neurological, or metabolic abnormalities associated with the presence of mental retardation.5 Non-syndromic XLMR (MRX) are conditions in which a gene mutation causes mental retardation in the absence of other distinctive dysmorphic, metabolic, or neurological features.6 At present, XLMR conditions consist of 136 MRXS7 and 75 MRX8 entities. To date, 35 genes have been cloned. However, so far only nine non-syndromic XLMR genes have been identified: TM4SF2 , FMR2 , OPHN1 (MRX60), GDI1 (MRX41, MRX48), PAK3 (MRX30, MRX47), RSK2 (MRX19), IL1RAPL (MRX34), ARHGEF6 (MRX46), and MECP2 (MRX16).9–18
TM4SF2 , a member of the transmembrane 4 superfamily, maps to Xp11.4 and is one of the genes associated with non-syndromic XLMR.9 Mutations in TM4SF2 have been previously described in two families (L28 and T15) with non-syndromic XLMR. As a part of our XLMR candidate gene testing, we have screened probands from 14 XLMR families (10 linked to Xp11 and four small families with no linkage data) for mutations in the TM4SF2 gene. Here we report a novel 2 bp deletion (564delGT), which segregates with mental retardation in the MRX58 family. The deletion causes a frameshift and a subsequent stop codon six amino acids downstream (stop codon 192). This finding supports the hypothesis that different XLMR conditions, especially non-syndromic XLMR, result from mutations in the same gene.
### Patients
Probands from 14 XLMR families (three MRXS and …
ACS Chemical Neuroscience · 2011 · 19 citations · open access
Fragile X Syndrome: An Update on Developing Treatment Modalities
AbstractIntellectual disability (ID; mental retardation) is considered an immutable condition. Current medical practices are aimed at relieving symptoms and not at altering the underlying cognitive deficits. Scientific advancements from the past decade have led to the exciting possibility that ID may now be treatable. Moreover, pharmaceutical therapies targeting the most common form of inherited ID, Fragile X syndrome (FXS), may become the new benchmark for central nervous system (CNS) drug discovery: seeking cures for neurodevelopmental disorders.
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.
