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Intravenous AAV9- ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse model

29 Aug 2025

Abstract excerpt

Menkes disease is an X-linked recessive condition characterized by seizures, failure to thrive, and rapid, progressive neurodegeneration beginning within weeks after birth. Death usually occurs by 3 years of age. The disorder is caused by genetic variants in ATP7A , an evolutionarily conserved copper transporter that is crucial for normal brain development. The mottled-brindled mouse recapitulates salient...

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PMID: 40880469
DOI: 10.1126/sciadv.adw5612

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Intravenous AAV9- ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse modelPMID 40880469Read ↗

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