| Gene Symbol | SKIN |
| Minimally invasive | Simple skin punch biopsy (3mm diameter) |
| Accessible | No lumbar puncture or PET imaging required |
| Cost-effective | Lower infrastructure requirements ($200-500 per biopsy) |
| Repeatable | Suitable for longitudinal monitoring |
| Peripheral access | May reflect CNS pathology through neural crest-derived cells |
| Primary skin biomarker | Phosphorylated tau (p-Tau181, p-Tau217) in skin tissue |
| Detection method | Immunohistochemistry for phosphorylated alpha-synuclein (p-Ser129) |
| Target proteins | Phosphorylated tau (p-Tau181, p-Tau217, p-Tau231) |
| Correlation | Fibroblast p-Tau181 correlates with CSF p-Tau181 levels |
| Sensitivity | Variable (50-80%), depends on disease stage and comorbidity |
| Specificity | 80-90% for distinguishing AD from other neurodegenerative conditions |
| Source | Patient-derived skin fibroblasts cultured for 2-4 weeks |
| Biomarker | Intracellular p-Tau181 levels measured by ELISA |
| Application | Potential for detecting tau dysregulation in AD |
| Research status | Experimental, showing promise in pilot cohorts |
| KG Connections | 1 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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