miniUSH2A

**miniUSH2A** is a minigene-based gene therapy construct designed for gene augmentation therapy to treat Usher syndrome type 2A (USH2A) and USH2A-associated non-syndromic retinitis pigmentosa (NSRP). It encodes truncated versions of the USH2A protein (ushrin), such as MiniUSH2A-1 (encoding SEQ ID NO: 39, ~6786 bp), MiniUSH2A-2 (~4125 bp), MiniUSH2A-5 (993 bp), and MiniUSH2A-6 (1305 bp), incorporating key functional domains including a signal sequence, laminin N-terminal (LamNT), laminin G-like (LamGL), multiple laminin-type EGF-like (EGF Lam, e.g., 4-10 copies), laminin G (LamG), fibronectin type III (FN3, e.g., 7 copies), transmembrane (TM), and PDZ-binding motif (PBM) domains to restore photoreceptor function. Delivered via viral vectors (e.g., AAV) under promoters like 3xPRE-1_-1.2ZOP for photoreceptor-specific expression, preclinical studies in ush2a mutant zebrafish demonstrated restoration of whrna labeling at the photoreceptor periciliary region and physiological rescue potential[1].

Other names

MiniUSH2A-1MiniUSH-2A-1MiniUSH 2A-1MiniUSH2A-2MiniUSH-2A-2MiniUSH 2A-2MiniUSH2A-5MiniUSH-2A-5MiniUSH 2A-5MiniUSH2A-6MiniUSH-2A-6MiniUSH 2A-6