Publications by authors named "Genesis Lung"
Article Synopsis
- * The huR83C mouse model replicates the disease phenotype and has been used to test the effectiveness of BEAM-301, a treatment that utilizes lipid nanoparticles and adenine base editing to correct the harmful G6PC1-R83C variant.
- * BEAM-301 has shown the ability to correct about 60% of the variant in liver cells, restore blood sugar control, improve overall health, and increase survival rates in mice, indicating its potential as a therapeutic option for patients with this specific genetic mutation
Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal codominant disease caused by mutations within the SERPINA1 gene. The most prevalent variant in patients is PiZ SERPINA1, containing a single G > A transition mutation. PiZ alpha-1 antitrypsin (AAT) is prone to misfolding, leading to the accumulation of toxic aggregates within hepatocytes.
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