Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890167370> ?p ?o ?g. }
- W2890167370 abstract "Spinocerebellar ataxia type 8 (SCA8) is caused by a bidirectionally transcribed CTG·CAG expansion that results in the in vivo accumulation of CUG RNA foci, an ATG-initiated polyGln and a polyAla protein expressed by repeat-associated non-ATG (RAN) translation. Although RAN proteins have been reported in a growing number of diseases, the mechanisms and role of RAN translation in disease are poorly understood. We report a novel toxic SCA8 polySer protein which accumulates in white matter (WM) regions as aggregates that increase with age and disease severity. WM regions with polySer aggregates show demyelination and axonal degeneration in SCA8 human and mouse brains. Additionally, knockdown of the eukaryotic translation initiation factor eIF3F in cells reduces steady-state levels of SCA8 polySer and other RAN proteins. Taken together, these data show polySer and WM abnormalities contribute to SCA8 and identify eIF3F as a novel modulator of RAN protein accumulation." @default.
- W2890167370 created "2018-09-27" @default.
- W2890167370 creator A5002483385 @default.
- W2890167370 creator A5003957317 @default.
- W2890167370 creator A5017800420 @default.
- W2890167370 creator A5021255173 @default.
- W2890167370 creator A5024457804 @default.
- W2890167370 creator A5027548043 @default.
- W2890167370 creator A5028547559 @default.
- W2890167370 creator A5046491371 @default.
- W2890167370 creator A5046940016 @default.
- W2890167370 creator A5048570234 @default.
- W2890167370 creator A5072055814 @default.
- W2890167370 creator A5072478218 @default.
- W2890167370 creator A5076197749 @default.
- W2890167370 creator A5082098812 @default.
- W2890167370 creator A5089253041 @default.
- W2890167370 date "2018-09-11" @default.
- W2890167370 modified "2023-10-10" @default.
- W2890167370 title "<scp>SCA</scp> 8 <scp>RAN</scp> polySer protein preferentially accumulates in white matter regions and is regulated by <scp>eIF</scp> 3F" @default.
- W2890167370 cites W1529598366 @default.
- W2890167370 cites W1619082318 @default.
- W2890167370 cites W1760109367 @default.
- W2890167370 cites W1770729033 @default.
- W2890167370 cites W1964141302 @default.
- W2890167370 cites W1965568102 @default.
- W2890167370 cites W1969264016 @default.
- W2890167370 cites W1970395554 @default.
- W2890167370 cites W1973791782 @default.
- W2890167370 cites W1973909957 @default.
- W2890167370 cites W1975701819 @default.
- W2890167370 cites W1978142031 @default.
- W2890167370 cites W1984538960 @default.
- W2890167370 cites W1999225959 @default.
- W2890167370 cites W2004526658 @default.
- W2890167370 cites W2008575045 @default.
- W2890167370 cites W2011192164 @default.
- W2890167370 cites W2013488820 @default.
- W2890167370 cites W2021341670 @default.
- W2890167370 cites W2035347598 @default.
- W2890167370 cites W2036648170 @default.
- W2890167370 cites W2038777965 @default.
- W2890167370 cites W2052426535 @default.
- W2890167370 cites W2053767843 @default.
- W2890167370 cites W2054602909 @default.
- W2890167370 cites W2058118284 @default.
- W2890167370 cites W2061013566 @default.
- W2890167370 cites W2068372017 @default.
- W2890167370 cites W2069171272 @default.
- W2890167370 cites W2084459589 @default.
- W2890167370 cites W2085639188 @default.
- W2890167370 cites W2086277447 @default.
- W2890167370 cites W2092468599 @default.
- W2890167370 cites W2101379770 @default.
- W2890167370 cites W2102278945 @default.
- W2890167370 cites W2110634095 @default.
- W2890167370 cites W2111702550 @default.
- W2890167370 cites W2123193865 @default.
- W2890167370 cites W2129286776 @default.
- W2890167370 cites W2131036135 @default.
- W2890167370 cites W2131228505 @default.
- W2890167370 cites W2135402987 @default.
- W2890167370 cites W2141911414 @default.
- W2890167370 cites W2154575706 @default.
- W2890167370 cites W2157649211 @default.
- W2890167370 cites W2174686320 @default.
- W2890167370 cites W2175402548 @default.
- W2890167370 cites W2181090621 @default.
- W2890167370 cites W2581672374 @default.
- W2890167370 cites W2603753629 @default.
- W2890167370 cites W2756089374 @default.
- W2890167370 doi "https://doi.org/10.15252/embj.201899023" @default.
- W2890167370 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6166133" @default.
- W2890167370 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30206144" @default.
- W2890167370 hasPublicationYear "2018" @default.
- W2890167370 type Work @default.
- W2890167370 sameAs 2890167370 @default.
- W2890167370 citedByCount "44" @default.
- W2890167370 countsByYear W28901673702019 @default.
- W2890167370 countsByYear W28901673702020 @default.
- W2890167370 countsByYear W28901673702021 @default.
- W2890167370 countsByYear W28901673702022 @default.
- W2890167370 countsByYear W28901673702023 @default.
- W2890167370 crossrefType "journal-article" @default.
- W2890167370 hasAuthorship W2890167370A5002483385 @default.
- W2890167370 hasAuthorship W2890167370A5003957317 @default.
- W2890167370 hasAuthorship W2890167370A5017800420 @default.
- W2890167370 hasAuthorship W2890167370A5021255173 @default.
- W2890167370 hasAuthorship W2890167370A5024457804 @default.
- W2890167370 hasAuthorship W2890167370A5027548043 @default.
- W2890167370 hasAuthorship W2890167370A5028547559 @default.
- W2890167370 hasAuthorship W2890167370A5046491371 @default.
- W2890167370 hasAuthorship W2890167370A5046940016 @default.
- W2890167370 hasAuthorship W2890167370A5048570234 @default.
- W2890167370 hasAuthorship W2890167370A5072055814 @default.
- W2890167370 hasAuthorship W2890167370A5072478218 @default.
- W2890167370 hasAuthorship W2890167370A5076197749 @default.
- W2890167370 hasAuthorship W2890167370A5082098812 @default.
- W2890167370 hasAuthorship W2890167370A5089253041 @default.
- W2890167370 hasBestOaLocation W28901673701 @default.