Matches in SemOpenAlex for { <https://semopenalex.org/work/W1999578663> ?p ?o ?g. }
- W1999578663 endingPage "15" @default.
- W1999578663 startingPage "6" @default.
- W1999578663 abstract "Microsatellite-expansion diseases are a class of neurological and neuromuscular disorders caused by the expansion of short stretches of repetitive DNA (e.g. GGGGCC, CAG, CTG …) within the human genome. Since their discovery 20 years ago, research into how microsatellites expansions cause disease has been examined using the model that these genes are expressed in one direction and that expansion mutations only encode proteins when located in an ATG-initiated open reading frame. The fact that these mutations are often bidirectionally transcribed combined with the recent discovery of repeat associated non-ATG (RAN) translation provides new perspectives on how these expansion mutations are expressed and impact disease. Two expansion transcripts and a set of unexpected RAN proteins must now be considered for both coding and ‘non-coding’ expansion disorders. RAN proteins have been reported in a growing number of diseases, including spinocerebellar ataxia type 8 (SCA8), myotonic dystrophy type 1 (DM1), Fragile-X tremor ataxia syndrome (FXTAS), and C9ORF72 amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD)." @default.
- W1999578663 created "2016-06-24" @default.
- W1999578663 creator A5021369714 @default.
- W1999578663 creator A5027548043 @default.
- W1999578663 date "2014-06-01" @default.
- W1999578663 modified "2023-10-17" @default.
- W1999578663 title "Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders" @default.
- W1999578663 cites W1965095016 @default.
- W1999578663 cites W1971507786 @default.
- W1999578663 cites W1972453061 @default.
- W1999578663 cites W1976817344 @default.
- W1999578663 cites W1976914395 @default.
- W1999578663 cites W1977267085 @default.
- W1999578663 cites W1980894900 @default.
- W1999578663 cites W1984538960 @default.
- W1999578663 cites W1986062299 @default.
- W1999578663 cites W1988498459 @default.
- W1999578663 cites W1989243375 @default.
- W1999578663 cites W1989638687 @default.
- W1999578663 cites W1994674028 @default.
- W1999578663 cites W2001022119 @default.
- W1999578663 cites W2001607290 @default.
- W1999578663 cites W2002780348 @default.
- W1999578663 cites W2008410413 @default.
- W1999578663 cites W2008575045 @default.
- W1999578663 cites W2012442320 @default.
- W1999578663 cites W2013488820 @default.
- W1999578663 cites W2025912123 @default.
- W1999578663 cites W2037313242 @default.
- W1999578663 cites W2044407202 @default.
- W1999578663 cites W2046885195 @default.
- W1999578663 cites W2050647292 @default.
- W1999578663 cites W2053082937 @default.
- W1999578663 cites W2053985384 @default.
- W1999578663 cites W2054068057 @default.
- W1999578663 cites W2054184368 @default.
- W1999578663 cites W2054542675 @default.
- W1999578663 cites W2055197343 @default.
- W1999578663 cites W2055854310 @default.
- W1999578663 cites W2063996210 @default.
- W1999578663 cites W2069171272 @default.
- W1999578663 cites W2073073462 @default.
- W1999578663 cites W2083076780 @default.
- W1999578663 cites W2084091637 @default.
- W1999578663 cites W2088489316 @default.
- W1999578663 cites W2092145129 @default.
- W1999578663 cites W2092574488 @default.
- W1999578663 cites W2095963715 @default.
- W1999578663 cites W2099643329 @default.
- W1999578663 cites W2101692941 @default.
- W1999578663 cites W2105187041 @default.
- W1999578663 cites W2109436341 @default.
- W1999578663 cites W2112159040 @default.
- W1999578663 cites W2113281193 @default.
- W1999578663 cites W2113670539 @default.
- W1999578663 cites W2113918626 @default.
- W1999578663 cites W2114364233 @default.
- W1999578663 cites W2114872355 @default.
- W1999578663 cites W2123168461 @default.
- W1999578663 cites W2123193865 @default.
- W1999578663 cites W2125073277 @default.
- W1999578663 cites W2127313039 @default.
- W1999578663 cites W2128739333 @default.
- W1999578663 cites W2129286776 @default.
- W1999578663 cites W2131173813 @default.
- W1999578663 cites W2131228505 @default.
- W1999578663 cites W2131447660 @default.
- W1999578663 cites W2132573397 @default.
- W1999578663 cites W2137863765 @default.
- W1999578663 cites W2139264742 @default.
- W1999578663 cites W2139919925 @default.
- W1999578663 cites W2140043547 @default.
- W1999578663 cites W2140752483 @default.
- W1999578663 cites W2143106924 @default.
- W1999578663 cites W2147493022 @default.
- W1999578663 cites W2148073045 @default.
- W1999578663 cites W2150523249 @default.
- W1999578663 cites W2154945114 @default.
- W1999578663 cites W2156244397 @default.
- W1999578663 cites W2158047249 @default.
- W1999578663 cites W2159854077 @default.
- W1999578663 cites W2165213609 @default.
- W1999578663 cites W2168889463 @default.
- W1999578663 cites W2171373304 @default.
- W1999578663 cites W2255469197 @default.
- W1999578663 cites W2277788469 @default.
- W1999578663 cites W2333480461 @default.
- W1999578663 doi "https://doi.org/10.1016/j.gde.2014.03.002" @default.
- W1999578663 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4237677" @default.
- W1999578663 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24852074" @default.
- W1999578663 hasPublicationYear "2014" @default.
- W1999578663 type Work @default.
- W1999578663 sameAs 1999578663 @default.
- W1999578663 citedByCount "98" @default.
- W1999578663 countsByYear W19995786632014 @default.
- W1999578663 countsByYear W19995786632015 @default.
- W1999578663 countsByYear W19995786632016 @default.
- W1999578663 countsByYear W19995786632017 @default.