Matches in SemOpenAlex for { <https://semopenalex.org/work/W413689652> ?p ?o ?g. }
- W413689652 endingPage "370" @default.
- W413689652 startingPage "357" @default.
- W413689652 abstract "In many genetic diseases for which there is to date no effective treatment, research in novel therapeutical targets and treatment options is one of the main objectives. In this context, many inherited metabolic diseases (IMD) fulfill the above criteria, and significant research is being performed in mutation-specific therapies. Specifically, a special attention has been given to splicing defects that account for 15–30% of the mutant alleles in most IMD. Splicing mutations are most commonly found at the conserved 3′ or 5′ splice sites at intron–exon junctions, but other types of changes have been described, including mutations affecting the polypyrimidine tract, exonic mutations affecting splice enhancers or silencers, and deep intronic mutations that activate or create splice sites resulting in the aberrant inclusion of pseudoexons in the mRNA. The understanding of the precise mechanisms leading to the splicing defect has paved the way for the implementation of splicing-directed RNA-based therapies. In IMD, several studies have explored the therapeutical potential of targeting the aberrant pre-mRNA resulting from splicing mutations, using overexpression or silencing of splicing factors and splice blocking antisense oligonucleotides. In this chapter, we review the existing knowledge on the splicing defects in IMD and their associated pathological effect as revealed by functional studies and the use of possible therapeutical interventions that can be applied to modulate splicing." @default.
- W413689652 created "2016-06-24" @default.
- W413689652 creator A5001813953 @default.
- W413689652 creator A5045089594 @default.
- W413689652 creator A5073454124 @default.
- W413689652 date "2012-01-01" @default.
- W413689652 modified "2023-10-14" @default.
- W413689652 title "RNA-Based Therapies for Inherited Metabolic Diseases" @default.
- W413689652 cites W1543222911 @default.
- W413689652 cites W1854727918 @default.
- W413689652 cites W1964668995 @default.
- W413689652 cites W1975279309 @default.
- W413689652 cites W1980847944 @default.
- W413689652 cites W1981502684 @default.
- W413689652 cites W1982517127 @default.
- W413689652 cites W1983924599 @default.
- W413689652 cites W1985783769 @default.
- W413689652 cites W1992555226 @default.
- W413689652 cites W2001169216 @default.
- W413689652 cites W2004698136 @default.
- W413689652 cites W2005076597 @default.
- W413689652 cites W2007610643 @default.
- W413689652 cites W2010757394 @default.
- W413689652 cites W2010968376 @default.
- W413689652 cites W2020227788 @default.
- W413689652 cites W2021485399 @default.
- W413689652 cites W2022275878 @default.
- W413689652 cites W2025935301 @default.
- W413689652 cites W2026657651 @default.
- W413689652 cites W2030606891 @default.
- W413689652 cites W2036856957 @default.
- W413689652 cites W2037226689 @default.
- W413689652 cites W2037939939 @default.
- W413689652 cites W2039769330 @default.
- W413689652 cites W2040743013 @default.
- W413689652 cites W2051603180 @default.
- W413689652 cites W2052931181 @default.
- W413689652 cites W2063243374 @default.
- W413689652 cites W2063318299 @default.
- W413689652 cites W2067628822 @default.
- W413689652 cites W2068472048 @default.
- W413689652 cites W2068834392 @default.
- W413689652 cites W2071667389 @default.
- W413689652 cites W2074543472 @default.
- W413689652 cites W2076830272 @default.
- W413689652 cites W2078709792 @default.
- W413689652 cites W2080624050 @default.
- W413689652 cites W2080823739 @default.
- W413689652 cites W2086039439 @default.
- W413689652 cites W2088999828 @default.
- W413689652 cites W2108441102 @default.
- W413689652 cites W2109306311 @default.
- W413689652 cites W2113525941 @default.
- W413689652 cites W2121523808 @default.
- W413689652 cites W2122973860 @default.
- W413689652 cites W2133389386 @default.
- W413689652 cites W2133696920 @default.
- W413689652 cites W2141640599 @default.
- W413689652 cites W2153351344 @default.
- W413689652 cites W2158156749 @default.
- W413689652 cites W2160764410 @default.
- W413689652 cites W2161597118 @default.
- W413689652 cites W2163274622 @default.
- W413689652 cites W2167914935 @default.
- W413689652 cites W2168667792 @default.
- W413689652 cites W193423965 @default.
- W413689652 doi "https://doi.org/10.1007/978-3-642-27426-8_14" @default.
- W413689652 hasPublicationYear "2012" @default.
- W413689652 type Work @default.
- W413689652 sameAs 413689652 @default.
- W413689652 citedByCount "1" @default.
- W413689652 countsByYear W4136896522013 @default.
- W413689652 crossrefType "book-chapter" @default.
- W413689652 hasAuthorship W413689652A5001813953 @default.
- W413689652 hasAuthorship W413689652A5045089594 @default.
- W413689652 hasAuthorship W413689652A5073454124 @default.
- W413689652 hasConcept C104317684 @default.
- W413689652 hasConcept C151730666 @default.
- W413689652 hasConcept C194583182 @default.
- W413689652 hasConcept C2778776201 @default.
- W413689652 hasConcept C2779343474 @default.
- W413689652 hasConcept C2780989783 @default.
- W413689652 hasConcept C36823959 @default.
- W413689652 hasConcept C42576000 @default.
- W413689652 hasConcept C54355233 @default.
- W413689652 hasConcept C54458228 @default.
- W413689652 hasConcept C62257209 @default.
- W413689652 hasConcept C67705224 @default.
- W413689652 hasConcept C70721500 @default.
- W413689652 hasConcept C72994624 @default.
- W413689652 hasConcept C86803240 @default.
- W413689652 hasConcept C94671646 @default.
- W413689652 hasConceptScore W413689652C104317684 @default.
- W413689652 hasConceptScore W413689652C151730666 @default.
- W413689652 hasConceptScore W413689652C194583182 @default.
- W413689652 hasConceptScore W413689652C2778776201 @default.
- W413689652 hasConceptScore W413689652C2779343474 @default.
- W413689652 hasConceptScore W413689652C2780989783 @default.