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C9orf72 Degradome Foundation Atlas

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DataCite Commons2026-02-23 更新2026-05-07 收录
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https://rdr.ucl.ac.uk/articles/dataset/C9orf72_Degradome_Foundation_Atlas/31390111
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The <b>C9orf72 Degradome Foundation Atlas (v1)</b> is an open-access, curated peptide resource providing a comprehensive map of proteolytic fragments derived from C9orf72 protein species relevant to neurodegenerative disease research.Hexanucleotide repeat expansions in <i>C9orf72</i> represent the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In addition to the canonical protein, repeat-associated non-ATG (RAN) translation produces dipeptide repeat proteins (DPRs) that contribute to aggregation, toxicity, and neurodegeneration. This atlas captures C9orf72 as a dynamic degradome of peptide fragments generated through proteolytic processing and repeat-associated biology.Included in Version 1:Wild-type C9orf72C9orf72 point mutation K285QC9orf72 dipeptide repeat protein (DPR) GP<sub>6</sub>C9orf72 dipeptide repeat protein (DPR) GP<sub>100</sub>What This Dataset ProvidesThis atlas delivers a systematically enumerated and annotated reference set of C9orf72-derived proteolytic peptides, each enriched with biochemical and biophysical descriptors to support:Biomarker discoveryAssay developmentProteomics pipeline benchmarkingAI/ML model trainingTranslational neuroscience researchKey Features<b>Thermodynamic stability predictions</b> for each peptide, with stable candidates flagged for assay suitability<b>Hydrophobicity and net charge annotations</b> to guide solubility and experimental design<b>Proteolytic origin mapping</b>, including cleavage site informationStandardised, structured format for seamless integration into bioinformatics workflowsData FormatPeptide annotations provided as comma-delimited ASCII <code>.csv</code> filesDistributed as compressed <code>.tar.gz</code> archives for efficient storage and downloadFully compatible with Python, R, SAS, and machine-learning frameworksReproducibility and MethodsAll datasets are fully reproducible using open-source computational workflows. The repository includes complete, documented Python scripts enabling regeneration, validation, and expansion of the degradome. The framework is designed for iterative updates as new C9orf72 variants, DPRs, or cleavage sites are identified.ApplicationsIdentification of C9orf72-derived peptides for ALS and FTD biomarker discoverySelection of chemically stable and soluble targets for immunoassay developmentExploration of DPR proteolytic landscapes and aggregation biologyIntegration with multi-omics datasets for systems-level modellingTraining and benchmarking AI models for cleavage-site prediction and fragment classificationThis Atlas is particularly valuable for researchers in neurodegeneration, proteomics, molecular neuroscience, neuroimmunology, and computational biology who seek a structured, peptide-level understanding of C9orf72 processing and its role in disease.
提供机构:
University College London
创建时间:
2026-02-23
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