RNase H2, mutated in Aicardi‐Goutières syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation

RNase H2, mutated in Aicardi‐Goutières syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation

RNase H2 is a specialized enzyme that degrades RNA in RNA/DNA hybrids and deficiency of this enzyme causes a severe neuroinflammatory disease, Aicardi Goutières syndrome (AGS). However, the molecular mechanism underlying AGS is still unclear. Here, we show that RNase H2 is associated with a subset o...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Cristini, A, Tellier, M, Constantinescu, F, Accalai, C, Albulescu, LO, Heiringhoff, R, Bery, N, Sordet, O, Murphy, S, Gromak, N
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	Springer Nature 2022

Míreanna comhchosúla

RNase H2, mutated in Aicardi‐Goutières syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation
de réir: Agnese Cristini, et al.
Foilsithe / Cruthaithe: (2022-05-01)

Aicardi-Goutieres Syndrome
de réir: J Gordon Millichap
Foilsithe / Cruthaithe: (1999-02-01)

Interferon Biomarkers in Aicardi-Goutieres Syndrome
de réir: J Gordon Millichap, et al.
Foilsithe / Cruthaithe: (2014-01-01)

MRI Features Predictive of Aicardi-Goutieres Syndrome
de réir: J Gordon Millichap
Foilsithe / Cruthaithe: (2015-01-01)

3358 Developmental Outcomes of Aicardi Goutieres Syndrome
de réir: Laura Adang, et al.
Foilsithe / Cruthaithe: (2019-03-01)

Transcription-dependent DNA double-strand breaks and human disease
de réir: Cristini, A, et al.
Foilsithe / Cruthaithe: (2020)

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes
de réir: Giordano, AMS, et al.
Foilsithe / Cruthaithe: (2022)

Nephrological problems in a child with Aicardi-Goutières syndrome
de réir: Małgorzata Piejak, et al.
Foilsithe / Cruthaithe: (2024-12-01)

Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome
de réir: Jeffrey Lambe, et al.
Foilsithe / Cruthaithe: (2020-02-01)

Transcription-dependent DNA double-strand breaks and human disease
de réir: Agnese Cristini, et al.
Foilsithe / Cruthaithe: (2020-03-01)

Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China
de réir: Shen Zhang, et al.
Foilsithe / Cruthaithe: (2024-09-01)

Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome
de réir: Johanna L. Schmidt, et al.
Foilsithe / Cruthaithe: (2012-01-01)

Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report
de réir: Mohammad Moein Vakilzadeh, et al.
Foilsithe / Cruthaithe: (2021-10-01)

Endocrinopathies in Aicardi Goutières syndrome—A descriptive case series
de réir: Chris Worth, et al.
Foilsithe / Cruthaithe: (2020-11-01)

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B
de réir: Rosalba Monica Ferraro, et al.
Foilsithe / Cruthaithe: (2019-12-01)

Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome
de réir: Francesca Dragoni, et al.
Foilsithe / Cruthaithe: (2023-03-01)

Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype
de réir: Isabella Peixoto de Barcelos, et al.
Foilsithe / Cruthaithe: (2023-08-01)

Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark
de réir: Rikke S. Møller, et al.
Foilsithe / Cruthaithe: (2022-12-01)

Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome
de réir: Shaoling Zheng, et al.
Foilsithe / Cruthaithe: (2020-05-01)

Aicardi-Goutières Syndrome associated mutations of RNase H2B impair its interaction with ZMYM3 and the CoREST histone-modifying complex.
de réir: Alexander Shapson-Coe, et al.
Foilsithe / Cruthaithe: (2019-01-01)

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
de réir: Crow, Y, et al.
Foilsithe / Cruthaithe: (2009)

Neonatal onset Aicardi-Goutières syndrome with congenital corneal edema, expanding the phenotype
de réir: Romit Jain, et al.
Foilsithe / Cruthaithe: (2021-01-01)

A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation
de réir: Zheng Chenhan, et al.
Foilsithe / Cruthaithe: (2023-02-01)

Inflammatory cytokine production in a mouse model of Aicardi-Goutieres syndrome and neuroinflammation
de réir: Clayton A Wiley, et al.
Foilsithe / Cruthaithe: (2022-01-01)

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example
de réir: Diane Beysen, et al.
Foilsithe / Cruthaithe: (2021-04-01)

Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
de réir: De Wu, et al.
Foilsithe / Cruthaithe: (2021-04-01)

Aicardi-Goutières syndrome: Phenotypic and genetic spectrum in a series of three cases
de réir: Esther Eugenia Moreno Medinilla, et al.
Foilsithe / Cruthaithe: (2019-05-01)

Aicardi-Goutières syndrome-associated gene SAMHD1 preserves genome integrity by preventing R-loop formation at transcription-replication conflict regions.
de réir: Kiwon Park, et al.
Foilsithe / Cruthaithe: (2021-04-01)

A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome
de réir: Oskar Schnappauf, PhD, et al.
Foilsithe / Cruthaithe: (2025-05-01)

Pseudo-catatonia and Acral Degos-like Lesions: An Atypical Form of the Aicardi–Goutières Syndrome
de réir: J. Arroyo-Andrés, et al.
Foilsithe / Cruthaithe: (2024-11-01)

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome
de réir: Tamar Rubin, et al.
Foilsithe / Cruthaithe: (2025-02-01)

Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1
de réir: Sofian Al Wardat, et al.
Foilsithe / Cruthaithe: (2024-05-01)

Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome
de réir: Jessica Galli, et al.
Foilsithe / Cruthaithe: (2023-08-01)

Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi–Goutières syndrome
de réir: Yoong Wearn Lim, et al.
Foilsithe / Cruthaithe: (2015-07-01)

Using crystallography and biophysics to understand mutations in the Aicardi-Goutieres Syndrome Ribonuclease H2 enzyme
de réir: Reijns, M, et al.
Foilsithe / Cruthaithe: (2011)

Aicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test
de réir: Chikako Senju, et al.
Foilsithe / Cruthaithe: (2022-11-01)

Modulation of LINE-1 and Alu/SVA Retrotransposition by Aicardi-Goutières Syndrome-Related SAMHD1
de réir: Ke Zhao, et al.
Foilsithe / Cruthaithe: (2013-09-01)

Dual processing of R-loops and topoisomerase I induces transcription-dependent DNA double-strand breaks
de réir: Cristini, A, et al.
Foilsithe / Cruthaithe: (2019)

A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
de réir: Yuri Shibata, et al.
Foilsithe / Cruthaithe: (2024-08-01)

Distinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome ortholog mutants of Saccharomyces cerevisiae
de réir: Deepali L. Kundnani, et al.
Foilsithe / Cruthaithe: (2024-06-01)