Triplet repeat disorders: discussion of molecular mechanisms.
Comparison of the growing number of disorders known to be associated with triplet repeat expansions reveals both common features and a diversity of molecular pathways. Despite significant progress towards the characterization of proteins coded by the mutant genes, the complex nature of these disorders requires identification of all molecular components of the triplet repeat pathways. In this brief review we will discuss recent progress in determining the molecular mechanisms of disorders with unstable trinucleotide mutations.
Timchenko
L T
LT
Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA.
Caskey
C T
CT
D000818:Animals; D017209:Apoptosis; D015220:Calcium Channels / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics / Q000378:metabolism; D005621:Friedreich Ataxia / Q000235:genetics / Q000378:metabolism; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D051379:Mice; D018598:Minisatellite Repeats; D008957:Models, Genetic; D009223:Myotonic Dystrophy / Q000235:genetics / Q000378:metabolism; D065636:Myotonin-Protein Kinase; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D010455:Peptides / Q000235:genetics / Q000378:metabolism; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D012313:RNA / Q000235:genetics / Q000378:metabolism; D016601:RNA-Binding Proteins; D018911:Trinucleotide Repeats
D015220:Calcium Channels; D051860:Fragile X Messenger Ribonucleoprotein 1; D018398:Homeodomain Proteins; D007501:Iron; D065636:Myotonin-Protein Kinase; D009419:Nerve Tissue Proteins; D010455:Peptides; D017346:Protein Serine-Threonine Kinases; D012313:RNA; D016601:RNA-Binding Proteins; C585517:DMPK protein, human; C585516:DMPK protein, mouse; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse; C106687:SIX5 protein, human; C486344:Six5 protein, mouse; C097188:polyglutamine