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Wilson’s Disease
Loss of Function

Wilson’s Disease

  • Genotype

    Atp7b KO

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Motor coordination, Tremors, Involuntary jerky movements, Anxiety, Cognitive deficits, Sensorimotor impairment

  • Biomarker

    ALT, AST, Billirubin, NfL

  • Gene Expression Markers

    CTR1, MT1, MT2, SOD1, CAT, CASP3,TGF-β, COL1A1

  • Physiology Changes

    Oxidative phosphorylation, Hepatic inflammation

  • Histology Grading Endpoint

    Hepatocyte ballooning and degeneration, Periportal fibrosis, Cirrhosis, Portal and lobular inflammatory infiltrates

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