Ontology highlight
ABSTRACT:
SUBMITTER: Kanadia RN
PROVIDER: S-EPMC1544241 | biostudies-literature | 2006 Aug
REPOSITORIES: biostudies-literature
Kanadia Rahul N RN Shin Jihae J Yuan Yuan Y Beattie Stuart G SG Wheeler Thurman M TM Thornton Charles A CA Swanson Maurice S MS
Proceedings of the National Academy of Sciences of the United States of America 20060724 31
RNA-mediated pathogenesis is a recently developed disease model that proposes that certain types of mutant genes produce toxic transcripts that inhibit the activities of specific proteins. This pathogenesis model was proposed first for the neuromuscular disease myotonic dystrophy (DM), which is associated with the expansion of structurally related (CTG)(n) and (CCTG)(n) microsatellites in two unrelated genes. At the RNA level, these expansions form stable hairpins that alter the pre-mRNA splicin ...[more]