Leszek Lisowski

AAV8-PDE6B with 3’UTR provides rescue of photoreceptor structure and function in the rd10 mouse model of retinitis pigmentosa

Abstract Retinitis pigmentosa (RP), a leading cause of inherited blindness, results in a subset of cases from phosphodiesterase 6 (PDE6) deficiency. We evaluated a novel gene therapy construct, AAV8-RK- PDE6B -3′UTR, in the rd10 mouse model which has a homozygous missense variant...

Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

Glycosylphosphatidylinositol-anchored proteins (GPI-APs) are essential for neuronal development, synaptic organization and signaling. Defects in GPI-anchor biosynthesis or remodeling cause rare neurodevelopmental disorders, including post-GPI attachment to proteins 1 (PGAP1) defi...