Therapeutics development for triplet repeat expansion diseases.
The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of model systems for investigating disease mechanisms and evaluating treatments. Examination of experimental findings reveals similarities in disease mechanisms as well as possibilities for treatment.
Di Prospero
Nicholas A
NA
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-3705, USA. DiProsperN@ninds.nih.gov
Fischbeck
Kenneth H
KH
D005600:Fragile X Syndrome / Q000235:genetics; D005786:Gene Expression Regulation; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics* / Q000628:therapy; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D009154:Mutation; D010455:Peptides / Q000235:genetics; D018911:Trinucleotide Repeats
D010455:Peptides; C019529:polyalanine; C097188:polyglutamine