title: A-to-I RNA editing and human disease.
abstract: The post-transcriptional modification of mammalian transcripts by A-to-I RNA editing has been recognized as an important mechanism for the generation of molecular diversity and also regulates protein function through recoding of genomic information. As the molecular players of editing are characterized and an increasing number of genes become identified that are subject to A-to-I modification, the potential impact of editing on the etiology or progression of human diseases is realized. Here we review the recent knowledge on where disturbances in A-to-I RNA editing have been correlated with human disease phenotypes.
authors.affiliation: Department of Biological Sciences, Lehigh University, Bethlehem, Pennsylvania 18015, USA. smaas@lehigh.edu <smaas@lehigh.edu>
authors.forename: Stefan
authors.initials: S
authors.lastname: Maas
authors.forename: Yukio
authors.initials: Y
authors.lastname: Kawahara
authors.forename: Kristen M
authors.initials: KM
authors.lastname: Tamburro
authors.forename: Kazuko
authors.initials: K
authors.lastname: Nishikura
mesh_terms: D000241:Adenosine / Q000737:chemistry* / Q000235:genetics; D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000818:Animals; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007288:Inosine / Q000737:chemistry* / Q000235:genetics; D008457:Measles / Q000235:genetics; D051379:Mice; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D017393:RNA Editing / Q000235:genetics*; D012323:RNA Processing, Post-Transcriptional; D012871:Skin Diseases / Q000235:genetics
chemical_list: D007288:Inosine; D000241:Adenosine