PDE6B


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AcronymDefinition
PDE6BPhosphodiesterase 6B
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References in periodicals archive ?
The company, which specialises in gene therapy for the treatment of rare, inherited retinal diseases, said that the main objective will be to establish the safety and efficacy of a unilateral subretinal injection of the product in patients with a retinitis pigmentosa caused by biallelic mutations in the PDE6B gene, which can lead to a defective expression of the PDE6B protein (PDE6beta).
Next-generation sequencing (NGS) was then applied to two affected family members with RP (III:9 and IV:1), who did not have CYP4V2 mutations, then to identify disease-causing variants in 47 RP-related genes including the PRPF31, CRB1, PRPF8, CA4, TULP1, PRPF3, ABCA4, RPE65, EYS, CERKL, NRL, FAM161A, FSCN2, TOPORS, SNRNP200, SEMA4A, PRCD, NR2E3, MERTK, USH2A, PDE6B, PROM1, KLHL7, PDE6A, RGR, CNGB1, IDH3B, SAG, GUCA1B, CNGA1, BEST1, TTC8, C2orf71, ARL6, IMPG2, PDE6G, ZNF513, DHDDS, PRPF6, CLRN1, MAK, CDHR1, FLVCR1, RLBP1, SPATA7, AIPL1, and LRAT genes.
These mice were homozygous for the retinal degeneration 1 mutation (Pde6b rd1), which caused blindness by weaning age.