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Page 1
Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
Liu A, Ying S. Liu A, et al. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 Jul 29. Scand J Immunol. 2023. PMID: 37515439 Free article. Review.
AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) that result in accumulation of self-nucleic acids in the cytoplasm or aberrant sensing of self-nucleic acids. ...
AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) …
ARID1A suppresses R-loop-mediated STING-type I interferon pathway activation of anti-tumor immunity.
Maxwell MB, Hom-Tedla MS, Yi J, Li S, Rivera SA, Yu J, Burns MJ, McRae HM, Stevenson BT, Coakley KE, Ho J, Gastelum KB, Bell JC, Jones AC, Eskander RN, Dykhuizen EC, Shadel GS, Kaech SM, Hargreaves DC. Maxwell MB, et al. Cell. 2024 Jun 20;187(13):3390-3408.e19. doi: 10.1016/j.cell.2024.04.025. Epub 2024 May 15. Cell. 2024. PMID: 38754421 Free PMC article.
Overexpression of the R-loop resolving enzyme, RNASEH2B, or cytosolic DNase, TREX1, in ARID1A-deficient cells prevented cytosolic ssDNA accumulation and ARID1A-IFN gene upregulation. ...
Overexpression of the R-loop resolving enzyme, RNASEH2B, or cytosolic DNase, TREX1, in ARID1A-deficient cells prevented cytosolic ssD …
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
Zimmermann M, Murina O, Reijns MAM, Agathanggelou A, Challis R, Tarnauskaitė Ž, Muir M, Fluteau A, Aregger M, McEwan A, Yuan W, Clarke M, Lambros MB, Paneesha S, Moss P, Chandrashekhar M, Angers S, Moffat J, Brunton VG, Hart T, de Bono J, Stankovic T, Jackson AP, Durocher D. Zimmermann M, et al. Nature. 2018 Jul;559(7713):285-289. doi: 10.1038/s41586-018-0291-z. Epub 2018 Jul 4. Nature. 2018. PMID: 29973717 Free PMC article.
We conclude that genomic ribonucleotides are a hitherto unappreciated source of PARP-trapping DNA lesions, and that the frequent deletion of RNASEH2B in metastatic prostate cancer and chronic lymphocytic leukaemia could provide an opportunity to exploit these findings ther …
We conclude that genomic ribonucleotides are a hitherto unappreciated source of PARP-trapping DNA lesions, and that the frequent deletion of …
ADAR1 prevents autoinflammation by suppressing spontaneous ZBP1 activation.
de Reuver R, Verdonck S, Dierick E, Nemegeer J, Hessmann E, Ahmad S, Jans M, Blancke G, Van Nieuwerburgh F, Botzki A, Vereecke L, van Loo G, Declercq W, Hur S, Vandenabeele P, Maelfait J. de Reuver R, et al. Nature. 2022 Jul;607(7920):784-789. doi: 10.1038/s41586-022-04974-w. Epub 2022 Jul 20. Nature. 2022. PMID: 35859175
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being RNASEH2B, EIF2B5, POLR3A, and PLP1, and a dual diagnosis underlying complex phenotypes in 6 families, underscoring the importance of genomic analysis to solve these cases. . …
We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being RNASEH2B, EIF2B5, POLR3A, and PLP …
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutieres Syndrome and Beyond.
Livingston JH, Crow YJ. Livingston JH, et al. Neuropediatrics. 2016 Dec;47(6):355-360. doi: 10.1055/s-0036-1592307. Epub 2016 Sep 19. Neuropediatrics. 2016. PMID: 27643693 Review.
It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7). ...
It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A ( …
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes.
Giordano AMS, Luciani M, Gatto F, Abou Alezz M, Beghè C, Della Volpe L, Migliara A, Valsoni S, Genua M, Dzieciatkowska M, Frati G, Tahraoui-Bories J, Giliani SC, Orcesi S, Fazzi E, Ostuni R, D'Alessandro A, Di Micco R, Merelli I, Lombardo A, Reijns MAM, Gromak N, Gritti A, Kajaste-Rudnitski A. Giordano AMS, et al. J Exp Med. 2022 Apr 4;219(4):e20211121. doi: 10.1084/jem.20211121. Epub 2022 Mar 9. J Exp Med. 2022. PMID: 35262626 Free PMC article.
Here, we generated human models of AGS using genetically modified and patient-derived pluripotent stem cells harboring TREX1 or RNASEH2B loss-of-function alleles. Genome-wide transcriptomic analysis reveals that spontaneous proinflammatory activation in AGS astrocytes init …
Here, we generated human models of AGS using genetically modified and patient-derived pluripotent stem cells harboring TREX1 or RNASEH2B …
PELI2 is a negative regulator of STING signaling that is dynamically repressed during viral infection.
Ritchie C, Li L. Ritchie C, et al. Mol Cell. 2024 Jul 11;84(13):2423-2435.e5. doi: 10.1016/j.molcel.2024.06.001. Epub 2024 Jun 24. Mol Cell. 2024. PMID: 38917796 Free PMC article.
PELI2 sets a threshold for STING activation that tolerates low levels of cytosolic dsDNA, such as that caused by silenced TREX1, RNASEH2B, BRCA1, or SETX. When this threshold is reached, such as during viral infection, STING-induced interferon production temporarily downre …
PELI2 sets a threshold for STING activation that tolerates low levels of cytosolic dsDNA, such as that caused by silenced TREX1, RNASEH2B …
Systemic complications of Aicardi Goutières syndrome using real-world data.
Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA. Peixoto de Barcelos I, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108578. doi: 10.1016/j.ymgme.2024.108578. Epub 2024 Sep 15. Mol Genet Metab. 2024. PMID: 39332260 Free PMC article.
RESULTS: The genotype frequency in the natural history cohort was TREX1 (n = 26, 15.6 %), RNASEH2B (n = 50, 29.9 %), RNASEH2C (n = 3, 1.8 %), RNASEH2A (n = 7, 4.2 %), SAMHD1 (n = 25, 15.0 %), ADAR (n = 34, 20.4 %), IFIH1 (n = 19, 11.4 %), and RNU7-1 (n = 3, 1.8 %). ...
RESULTS: The genotype frequency in the natural history cohort was TREX1 (n = 26, 15.6 %), RNASEH2B (n = 50, 29.9 %), RNASEH2C (n = 3, …
Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
Beyer U, Brand F, Martens H, Weder J, Christians A, Elyan N, Hentschel B, Westphal M, Schackert G, Pietsch T, Hong B, Krauss JK, Samii A, Raab P, Das A, Dumitru CA, Sandalcioglu IE, Hakenberg OW, Erbersdobler A, Lehmann U, Reifenberger G, Weller M, Reijns MAM, Preller M, Wiese B, Hartmann C, Weber RG. Beyer U, et al. Acta Neuropathol. 2017 Dec;134(6):905-922. doi: 10.1007/s00401-017-1774-y. Epub 2017 Oct 13. Acta Neuropathol. 2017. PMID: 29030706 Free article.
(P193A) and RNASEH2B,c.529G>A;p.(A177T) in the germline of familial glioma patients as well as in test and validation cohorts of glioblastomas and prostate carcinomas versus ethnicity-matched controls, whereby rare RNASEH2B variants were significantly more freque …
(P193A) and RNASEH2B,c.529G>A;p.(A177T) in the germline of familial glioma patients as well as in test and validation cohorts of g …
55 results