Matches in SemOpenAlex for { <https://semopenalex.org/work/W2461804401> ?p ?o ?g. }
- W2461804401 endingPage "4476" @default.
- W2461804401 startingPage "4466" @default.
- W2461804401 abstract "The identification of the hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in the non-coding region of the C9ORF72 gene as the most frequent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has opened the path for advances in the knowledge and treatment of these disorders, which remain incurable. Recent evidence suggests that HRE RNA can cause gain-of-function neurotoxicity, but haploinsufficiency has also been hypothesized. In this review, we describe the recent developments in therapeutic targeting of the pathological expansion of C9ORF72 for ALS, FTD, and other neurodegenerative disorders. Three approaches are prominent: (1) an antisense oligonucleotides/RNA interference strategy; (2) using small compounds to counteract the toxic effects directly exerted by RNA derived from the repeat transcription (foci), by the translation of dipeptide repeat proteins (DPRs) from the repeated sequence, or by the sequestration of RNA-binding proteins from the C9ORF72 expansion; and (3) gene therapy, not only for silencing the toxic RNA/protein, but also for rescuing haploinsufficiency caused by the reduced transcription of the C9ORF72 coding sequence or by the diminished availability of RNA-binding proteins that are sequestered by RNA foci. Finally, with the perspective of clinical therapy, we discuss the most promising progress that has been achieved to date in the field." @default.
- W2461804401 created "2016-07-22" @default.
- W2461804401 creator A5016427170 @default.
- W2461804401 creator A5031953083 @default.
- W2461804401 creator A5036141956 @default.
- W2461804401 creator A5060263136 @default.
- W2461804401 creator A5076321492 @default.
- W2461804401 creator A5080427278 @default.
- W2461804401 date "2016-06-28" @default.
- W2461804401 modified "2023-10-06" @default.
- W2461804401 title "Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders" @default.
- W2461804401 cites W1137678651 @default.
- W2461804401 cites W1518213415 @default.
- W2461804401 cites W1522290843 @default.
- W2461804401 cites W1796096082 @default.
- W2461804401 cites W1797572428 @default.
- W2461804401 cites W1837901569 @default.
- W2461804401 cites W1965416514 @default.
- W2461804401 cites W1974540289 @default.
- W2461804401 cites W1975004322 @default.
- W2461804401 cites W1977241652 @default.
- W2461804401 cites W1984538960 @default.
- W2461804401 cites W1988645452 @default.
- W2461804401 cites W1992244630 @default.
- W2461804401 cites W2000373218 @default.
- W2461804401 cites W2004901342 @default.
- W2461804401 cites W2006167464 @default.
- W2461804401 cites W2007568107 @default.
- W2461804401 cites W2013131112 @default.
- W2461804401 cites W2013846239 @default.
- W2461804401 cites W2014018936 @default.
- W2461804401 cites W2017217665 @default.
- W2461804401 cites W2017916137 @default.
- W2461804401 cites W2027178374 @default.
- W2461804401 cites W2027485328 @default.
- W2461804401 cites W2034445101 @default.
- W2461804401 cites W2035110063 @default.
- W2461804401 cites W2038354221 @default.
- W2461804401 cites W2038735530 @default.
- W2461804401 cites W2039247139 @default.
- W2461804401 cites W2041535798 @default.
- W2461804401 cites W2045151039 @default.
- W2461804401 cites W2045600222 @default.
- W2461804401 cites W2049061886 @default.
- W2461804401 cites W2052134450 @default.
- W2461804401 cites W2055270946 @default.
- W2461804401 cites W2062238769 @default.
- W2461804401 cites W2063996210 @default.
- W2461804401 cites W2065219073 @default.
- W2461804401 cites W2066828509 @default.
- W2461804401 cites W2069171272 @default.
- W2461804401 cites W2073190029 @default.
- W2461804401 cites W2077332675 @default.
- W2461804401 cites W2078849828 @default.
- W2461804401 cites W2081748748 @default.
- W2461804401 cites W2088068912 @default.
- W2461804401 cites W2088461570 @default.
- W2461804401 cites W2089502182 @default.
- W2461804401 cites W2096386031 @default.
- W2461804401 cites W2099934271 @default.
- W2461804401 cites W2104933407 @default.
- W2461804401 cites W2113525941 @default.
- W2461804401 cites W2114763268 @default.
- W2461804401 cites W2114872355 @default.
- W2461804401 cites W2124654811 @default.
- W2461804401 cites W2126810432 @default.
- W2461804401 cites W2128739333 @default.
- W2461804401 cites W2128768698 @default.
- W2461804401 cites W2135566609 @default.
- W2461804401 cites W2136896331 @default.
- W2461804401 cites W2137039075 @default.
- W2461804401 cites W2138207816 @default.
- W2461804401 cites W2140455763 @default.
- W2461804401 cites W2140487984 @default.
- W2461804401 cites W2141458509 @default.
- W2461804401 cites W2141759311 @default.
- W2461804401 cites W2150523249 @default.
- W2461804401 cites W2154945114 @default.
- W2461804401 cites W2158949580 @default.
- W2461804401 cites W2160900058 @default.
- W2461804401 cites W2166203644 @default.
- W2461804401 cites W2166483989 @default.
- W2461804401 cites W2166739815 @default.
- W2461804401 cites W2185205258 @default.
- W2461804401 cites W2210685190 @default.
- W2461804401 cites W2300951885 @default.
- W2461804401 cites W2309375248 @default.
- W2461804401 cites W2343299166 @default.
- W2461804401 cites W2343475708 @default.
- W2461804401 cites W4288400169 @default.
- W2461804401 cites W593814261 @default.
- W2461804401 cites W781912489 @default.
- W2461804401 cites W861285213 @default.
- W2461804401 doi "https://doi.org/10.1007/s12035-016-9993-0" @default.
- W2461804401 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27349438" @default.
- W2461804401 hasPublicationYear "2016" @default.
- W2461804401 type Work @default.
- W2461804401 sameAs 2461804401 @default.