Novel Method to Treat PACS1 and PACS2 Syndromes
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- Enables direct in vivo investigation of neurodevelopmental deficits associated with PACS1 Syndrome. The technology features a mouse model designed with a megamer-based CRISPR/Cas9 genome editing strategy that replicates a human de novo missense mutation associated with a neurodevelopmental disorder. This model precisely introduces the analogous R201W mutation in mice, allowing direct in vivo analysis of neurodevelopmental deficits.
Targeted degradation of Nef with Nef-directed PROTACs is anticipated to reverse all HIV-1 Nef functions, thereby restoring immune responses against HIV-1 reservoir cells. • Human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS).
University of Pittsburgh researchers have developed a novel in vitro model of metabolic dysfunction-associated steatotic liver disease (MASLD) in patients with genetic mutations (TM6SF2-167K). Mutations to the transmembrane 6 superfamily 2 gene, TM6SF2 (rs58542926) at position 167 are associated with an increased risk of liver-related death. These hepatocytes can accurately model MASLD in humans with TM6SF2-167K mutations, improving the understanding of ESLD and development of treatments for chronic liver disease.