Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

Cilia are highly specialized cellular organelles that serve multiple functions in human
development and health. Their central importance in the body is demonstrated by the …

Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis
pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non …

Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa, an untreatable form of
blindness. Gene therapy is a promising treatment for PRPF31-retinitis pigmentosa, however …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Abstract Proteins PRPF31, PRPF3 and PRPF8 (RP-PRPFs) are ubiquitously expressed
components of the spliceosome, a macromolecular complex that processes nearly all pre …

Over the last decade, huge progress has been made in the understanding of the molecular
mechanisms underlying inherited retinal dystrophy (IRD), as well as in the development and …

The spliceosome machinery is composed of multimeric protein complexes that generate a
diverse repertoire of mRNA through coordinated splicing of heteronuclear RNAs. While …

Retinitis pigmentosa (RP) is the most common inherited retinal disease characterized by
progressive degeneration of photoreceptors and/or retinal pigment epithelium that …

Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both
temporally and spatially. Genetic defects in several spliceosome components have been …