Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer

Abstract excerpt

Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder caused by mutations in the LIPA gene, which results in lipid accumulation leading to multi-organ failure. If left untreated, the severe form of LAL-D results in premature death within the first year of life due to failure to thrive and hepatic insufficiency. Enzyme replacement therapy is the only available supportive treatment consisting...

Topics

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• Adaptive Immunity
• Disease Models, Animal
• Gene Transfer Techniques
• Genetic Therapy
• Genetic Vectors
• Immunity, Innate
• Lysosomal Storage Diseases
• Mutation

Identifiers and source

Literature Corpus work

8a4feecd-c1e5-5acd-afad-0768c6ffbaa1

DOI

10.1101/2024.04.26.591270