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Select item 78566741.

Late-onset Aicardi Goutières syndrome: a characterization of presenting clinical features

Cara Piccoli, Nowa Bronner, Francesco Gavazzi, Holly Dubbs, Micaela De Simone, Valentina De Giorgis, Simona Orcesi, Elisa Fazzi, Jessica Galli, Silvia Masnada, Davide Tonduti, Costanza Varesio, Adeline Vanderver, Arastoo Vossough, Laura Adang

Pediatr Neurol. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Pediatr Neurol. 2021 Feb; 115: 1–6. Published online 2020 Nov 2. doi: 10.1016/j.pediatrneurol.2020.10.012

PMCID:: PMC7856674

Abstract Article PDF–750K

Select item 30620012.

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions

Esther Leshinsky-Silver, Gustavo Malinger, Liat Ben-Sira, Dvora Kidron, Sarit Cohen, Shani Inbar, Tali Bezaleli, Arie Levine, Chana Vinkler, Dorit Lev, Tally Lerman-Sagie

Eur J Hum Genet. 2011 Mar; 19(3): 287–292. Published online 2010 Nov 24. doi: 10.1038/ejhg.2010.213

PMCID:: PMC3062001

Abstract Article PDF–482K

Select item 31780503.

Effect of the disease-causing mutations identified in human RNase H2 on the activities and stabilities of yeast RNase H2 and archaeal RNase HII

Muhammad Saifur Rohman, Yuichi Koga, Kazufumi Takano, Hyongi Chon, Robert J. Crouch, Shigenori Kanaya

FEBS J. Author manuscript; available in PMC 2011 Sep 22.

Published in final edited form as: FEBS J. 2008 Oct; 275(19): 4836–4849. Published online 2008 Aug 21. doi: 10.1111/j.1742-4658.2008.06622.x

PMCID:: PMC3178050

Abstract Article PDF–3.0M

Select item 31876864.

Restricted Access to Myeloid Cells Explained

Vicente Planelles

Viruses. 2011 Sep; 3(9): 1624–1633. Published online 2011 Sep 5. doi: 10.3390/v3091624

PMCID:: PMC3187686

Abstract Article PDF–201K

Select item 38879765.

Identification of Two HIV Inhibitors that also Inhibit Human RNaseH2

Junghwan Kim, Jaewan Yoon, MoonKyeong Ju, Yunmi Lee, Tae-Hee Kim, Junwon Kim, Peter Sommer, Zaesung No, Jonathan Cechetto, Sung-Jun Han

Mol Cells. 2013 Sep 30; 36(3): 212–218. Published online 2013 Sep 2. doi: 10.1007/s10059-013-2348-z

PMCID:: PMC3887976

Abstract Article PDF–6.9M

Select item 39297096.

SAMHD1 Restricts HIV-1 Replication and Regulates Interferon Production in Mouse Myeloid Cells

Ruonan Zhang, Nicolin Bloch, Laura A. Nguyen, Baek Kim, Nathaniel R. Landau

PLoS One. 2014; 9(2): e89558. Published online 2014 Feb 19. doi: 10.1371/journal.pone.0089558

PMCID:: PMC3929709

Abstract Article PDF–1.8M

Select item 45423047.

The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA

Niamh M. Mannion, Sam M. Greenwood, Robert Young, Sarah Cox, James Brindle, David Read, Christoffer Nellåker, Cornelia Vesely, Chris P. Ponting, Paul J. McLaughlin, Michael F. Jantsch, Julia Dorin, Ian R. Adams, A.D.J. Scadden, Marie Öhman, Liam P. Keegan, Mary A. O’Connell

Cell Rep. 2014 Nov 20; 9(4): 1482–1494. Published online 2014 Nov 13. doi: 10.1016/j.celrep.2014.10.041

PMCID:: PMC4542304

Abstract Article

Select item 47312898.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Roberta La Piana, Carla Uggetti, Federico Roncarolo, Adeline Vanderver, Ivana Olivieri, Davide Tonduti, Guy Helman, Umberto Balottin, Elisa Fazzi, Yanick J. Crow, John Livingston, Simona Orcesi

Neurology. 2016 Jan 5; 86(1): 28–35. doi: 10.1212/WNL.0000000000002228

PMCID:: PMC4731289

Abstract Article PDF–628K

Select item 54864839.

Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation

Michael Henrickson, Heng Wang

Clin Rheumatol. 2017; 36(6): 1445–1451. Published online 2017 Mar 13. doi: 10.1007/s10067-017-3600-2

PMCID:: PMC5486483

Abstract Article PDF–759K

Select item 631476910.

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis

Jessica Galli, Francesco Gavazzi, Micaela De Simone, Silvia Giliani, Jessica Garau, Marialuisa Valente, Donatella Vairo, Marco Cattalini, Marzia Mortilla, (Laura Andreoli, Raffaele Badolato, Marika Bianchi, Nice Carabellese, Cristina Cereda, Rosalba Ferraro, Fabio Facchetti, Micaela Fredi, Giulio Gualdi, Luisa Lorenzi, Antonella Meini, Simona Orcesi, Angela Tincani, Alessandra Zanola, Gillian Rice, Elisa Fazzi

Medicine (Baltimore) 2018 Dec; 97(52): e13893. Published online 2018 Dec 28. doi: 10.1097/MD.0000000000013893

PMCID:: PMC6314769

Abstract Article PDF–717K

Select item 639323811.

Sensitive ADAR editing reporter in cancer cells enables high-throughput screening of small molecule libraries

Kajsa Fritzell, Li-Di Xu, Magdalena Otrocka, Claes Andréasson, Marie Öhman

Nucleic Acids Res. 2019 Feb 28; 47(4): e22. Published online 2018 Dec 22. doi: 10.1093/nar/gky1228

PMCID:: PMC6393238

Abstract Article PDF–2.1M

Select item 722508612.

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia

Thomas Weber, Lars Schlotawa, Roland Dosch, Noémie Hamilton, Jens Kaiser, Stina Schiller, Britta Wenske, Jutta Gärtner, Marco Henneke

Biol Open. 2020 May 15; 9(5): bio049239. Published online 2020 May 7. doi: 10.1242/bio.049239

PMCID:: PMC7225086

Abstract Article PDF–14M

Select item 728846513.

Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors

Duran Sürün, Aksana Schneider, Jovan Mircetic, Katrin Neumann, Felix Lansing, Maciej Paszkowski-Rogacz, Vanessa Hänchen, Min Ae Lee-Kirsch, Frank Buchholz

Genes (Basel) 2020 May; 11(5): 511. Published online 2020 May 6. doi: 10.3390/genes11050511

PMCID:: PMC7288465

Abstract Article PDF–2.4M

Select item 782173614.

Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect

Tingyan He, Yu Xia, Jun Yang

Pediatr Rheumatol Online J. 2021; 19: 9. Published online 2021 Jan 22. doi: 10.1186/s12969-021-00497-2

PMCID:: PMC7821736

Abstract Article PDF–1.6M

Select item 1138316715.

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies

Laura A. Adang, Russell D’Aiello, Asako Takanohashi, Sarah Woidill, Francesco Gavazzi, Edward M. Behrens, Kathleen E. Sullivan, Raphaela Goldbach-Mansky, Adriana A. de Jesus, AGS Clinical Trial Readiness Workgroup, Adeline Vanderver, Justine Shults

JCI Insight. 2024 Jul 22; 9(14): e178456. Published online 2024 Jun 17. doi: 10.1172/jci.insight.178456

PMCID:: PMC11383167

Abstract Article PDF–1.7M

Select item 817388816.

Pathology of the neurovascular unit in leukodystrophies

Parand Zarekiani, Marjolein Breur, Nicole I. Wolf, Helga E. de Vries, Marjo S. van der Knaap, Marianna Bugiani

Acta Neuropathol Commun. 2021; 9: 103. Published online 2021 Jun 3. doi: 10.1186/s40478-021-01206-6

PMCID:: PMC8173888

Abstract Article PDF–2.6M

Select item 845939517.

Adenosine-to-inosine editing of endogenous Z-form RNA by the deaminase ADAR1 prevents spontaneous MAVS-dependent type I interferon responses

Qiannan Tang, Rachel E. Rigby, George R. Young, Astrid Korning Hvidt, Tanja Davis, Tiong Kit Tan, Anne Bridgeman, Alain R. Townsend, George Kassiotis, Jan Rehwinkel

Immunity. 2021 Sep 14; 54(9): 1961–1975.e5. doi: 10.1016/j.immuni.2021.08.011

PMCID:: PMC8459395

Abstract Article

Select item 847131118.

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders

Daniel A. Balikov, Adam Jacobson, Lev Prasov

Genes (Basel) 2021 Sep; 12(9): 1403. Published online 2021 Sep 11. doi: 10.3390/genes12091403

PMCID:: PMC8471311

Abstract Article PDF–392K

Select item 932909619.

ADAR1 averts fatal type I interferon induction by ZBP1

Huipeng Jiao, Laurens Wachsmuth, Simone Wolf, Juliane Lohmann, Masahiro Nagata, Göksu Gökberk Kaya, Nikos Oikonomou, Vangelis Kondylis, Manuel Rogg, Martin Diebold, Simon E. Tröder, Branko Zevnik, Marco Prinz, Christoph Schell, George R. Young, George Kassiotis, Manolis Pasparakis

Nature. 2022; 607(7920): 776–783. Published online 2022 Jul 20. doi: 10.1038/s41586-022-04878-9

PMCID:: PMC9329096

Abstract Article PDF–19M

Select item 950273520.

Child Neurology: Aicardi-Goutières Syndrome Presenting as Recurrent Ischemic Stroke

Shen-yi Kuang, Yao Li, Shi-Lin Yang, Xiang Han

Neurology. 2022 Aug 30; 99(9): 393–398. doi: 10.1212/WNL.0000000000200952

PMCID:: PMC9502735

Abstract Article PDF–205K

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