Author: | Malinina, L. |
Article Title: | Possible involvement of the RNAi pathway in trinucleotide repeat expansion diseases |
Abstract: | A new molecular mechanism of trinucleotide expansion diseases is suggested. The mechanism involves the formation of double-helical RNA hairpins by transcripts carrying (CNG)n sequences, which are processed via the RNAi pathway with subsequent RNA silencing of genes containing (CNG)n sequences. Depletion of proteins encoded by these genes leads to the specific disease phenotype. The available data on human myotonic dystrophy 1, which results from the (CTG)n expansion, support the hypothesis. ©Adenine Press (2005). |
Keywords: | pathogenesis; phenotype; protein depletion; rna, small interfering; rna interference; nucleotide sequence; short survey; base sequence; gene silencing; nucleic acid conformation; genetic disorder; rna transcription; myotonic dystrophy; trinucleotide repeat; trinucleotide repeat expansion disease; heredodegenerative disorders, nervous system; trinucleotide repeat expansion |
Journal Title: | Journal of Biomolecular Structure & Dynamics |
Volume: | 23 |
Issue: | 3 |
ISSN: | 0739-1102 |
Publisher: | Taylor & Francis Inc. |
Date Published: | 2005-12-01 |
Start Page: | 233 |
End Page: | 235 |
Language: | English |
PUBMED: | 16218750 |
PROVIDER: | scopus |
DOI/URL: | |
Notes: | --- - "Cited By (since 1996): 9" - "Export Date: 24 October 2012" - "CODEN: JBSDD" - "Molecular Sequence Numbers: GENBANK: AY296247, Y13829;" - "Source: Scopus" |