Matches in SemOpenAlex for { <https://semopenalex.org/work/W3088523892> ?p ?o ?g. }
- W3088523892 endingPage "111360" @default.
- W3088523892 startingPage "111360" @default.
- W3088523892 abstract "Recently, mutations in the RNA polymerase III subunit A (POLR3A) have been described as the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS). POLR3A has important roles in transcription regulation of small RNAs, including tRNA, 5S rRNA, and 7SK rRNA. We aim to describe the cellular and molecular features of WRS fibroblasts. Cultures of primary fibroblasts from one WRS patient [monoallelic POLR3A variant c.3772_3773delCT (p.Leu1258Glyfs*12)] and one control patient were cultured in vitro. The mutation caused a decrease in the expression of wildtype POLR3A mRNA and POLR3A protein and a sharp increase in mutant protein expression. In addition, there was an increase in the nuclear localization of the mutant protein. These changes were associated with an increase in the number and area of nucleoli and to a high increase in the expression of pP53 and pH2AX. All these changes were associated with premature senescence. The present observations add to our understanding of the differences between Hutchinson-Gilford progeria syndrome and WRS and opens new alternatives to study cell senesce and human aging." @default.
- W3088523892 created "2020-10-01" @default.
- W3088523892 creator A5001275163 @default.
- W3088523892 creator A5010085897 @default.
- W3088523892 creator A5012708990 @default.
- W3088523892 creator A5021405937 @default.
- W3088523892 creator A5039401399 @default.
- W3088523892 creator A5051212210 @default.
- W3088523892 creator A5057247837 @default.
- W3088523892 creator A5062018934 @default.
- W3088523892 creator A5070710254 @default.
- W3088523892 creator A5075252981 @default.
- W3088523892 creator A5078049576 @default.
- W3088523892 date "2020-12-01" @default.
- W3088523892 modified "2023-10-09" @default.
- W3088523892 title "Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts" @default.
- W3088523892 cites W1510449384 @default.
- W3088523892 cites W1511334651 @default.
- W3088523892 cites W1606581221 @default.
- W3088523892 cites W1890766043 @default.
- W3088523892 cites W1892158199 @default.
- W3088523892 cites W1964551999 @default.
- W3088523892 cites W1967676658 @default.
- W3088523892 cites W1970338621 @default.
- W3088523892 cites W1974449792 @default.
- W3088523892 cites W1974862758 @default.
- W3088523892 cites W1974947918 @default.
- W3088523892 cites W1984185924 @default.
- W3088523892 cites W1985837612 @default.
- W3088523892 cites W1996245886 @default.
- W3088523892 cites W1999200731 @default.
- W3088523892 cites W1999440327 @default.
- W3088523892 cites W1999962568 @default.
- W3088523892 cites W2020337099 @default.
- W3088523892 cites W2021302591 @default.
- W3088523892 cites W2021429966 @default.
- W3088523892 cites W2024412804 @default.
- W3088523892 cites W2029040415 @default.
- W3088523892 cites W2041884820 @default.
- W3088523892 cites W2046960746 @default.
- W3088523892 cites W2048951894 @default.
- W3088523892 cites W2059999514 @default.
- W3088523892 cites W2064451594 @default.
- W3088523892 cites W2072810104 @default.
- W3088523892 cites W2079013447 @default.
- W3088523892 cites W2081576851 @default.
- W3088523892 cites W2084929037 @default.
- W3088523892 cites W2088983871 @default.
- W3088523892 cites W2097005988 @default.
- W3088523892 cites W2104088469 @default.
- W3088523892 cites W2104908670 @default.
- W3088523892 cites W2120902817 @default.
- W3088523892 cites W2127708563 @default.
- W3088523892 cites W2143185290 @default.
- W3088523892 cites W2160621707 @default.
- W3088523892 cites W2177129405 @default.
- W3088523892 cites W2330237189 @default.
- W3088523892 cites W2335986416 @default.
- W3088523892 cites W2342847104 @default.
- W3088523892 cites W2514670387 @default.
- W3088523892 cites W2535085122 @default.
- W3088523892 cites W2608468149 @default.
- W3088523892 cites W2737074918 @default.
- W3088523892 cites W2737693232 @default.
- W3088523892 cites W2749445972 @default.
- W3088523892 cites W2768919265 @default.
- W3088523892 cites W2769923893 @default.
- W3088523892 cites W2784064453 @default.
- W3088523892 cites W2792023503 @default.
- W3088523892 cites W2803484355 @default.
- W3088523892 cites W2809546154 @default.
- W3088523892 cites W2896613866 @default.
- W3088523892 cites W2896763522 @default.
- W3088523892 cites W2901192951 @default.
- W3088523892 cites W2901811678 @default.
- W3088523892 cites W2913509582 @default.
- W3088523892 cites W2923924598 @default.
- W3088523892 cites W2936816157 @default.
- W3088523892 cites W2942472270 @default.
- W3088523892 cites W4252902870 @default.
- W3088523892 cites W955991595 @default.
- W3088523892 doi "https://doi.org/10.1016/j.mad.2020.111360" @default.
- W3088523892 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32976914" @default.
- W3088523892 hasPublicationYear "2020" @default.
- W3088523892 type Work @default.
- W3088523892 sameAs 3088523892 @default.
- W3088523892 citedByCount "6" @default.
- W3088523892 countsByYear W30885238922021 @default.
- W3088523892 countsByYear W30885238922022 @default.
- W3088523892 countsByYear W30885238922023 @default.
- W3088523892 crossrefType "journal-article" @default.
- W3088523892 hasAuthorship W3088523892A5001275163 @default.
- W3088523892 hasAuthorship W3088523892A5010085897 @default.
- W3088523892 hasAuthorship W3088523892A5012708990 @default.
- W3088523892 hasAuthorship W3088523892A5021405937 @default.
- W3088523892 hasAuthorship W3088523892A5039401399 @default.
- W3088523892 hasAuthorship W3088523892A5051212210 @default.
- W3088523892 hasAuthorship W3088523892A5057247837 @default.