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Literature DB >> 21633013

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.

Marcel du Moulin, Peter Nürnberg, Yanick J Crow, Frank Rutsch.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2011 PMID： 21633013 PMCID： PMC3127916 DOI： 10.1073/pnas.1104699108

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

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4 in total

1. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

Authors: Venkateswaran Ramesh; Bruno Bernardi; Altin Stafa; Caterina Garone; Emilio Franzoni; Mario Abinun; Patrick Mitchell; Dipayan Mitra; Mark Friswell; John Nelson; Stavit A Shalev; Gillian I Rice; Hannah Gornall; Marcin Szynkiewicz; François Aymard; Vijeya Ganesan; Julie Prendiville; John H Livingston; Yanick J Crow
Journal: Dev Med Child Neurol Date: 2010-08 Impact factor: 5.449

2. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.

Authors: Baozhong Xin; Stephen Jones; Erik G Puffenberger; Claas Hinze; Alicia Bright; Haiyan Tan; Aimin Zhou; Guiyun Wu; Jilda Vargus-Adams; Dimitris Agamanolis; Heng Wang
Journal: Proc Natl Acad Sci U S A Date: 2011-03-14 Impact factor: 11.205

3. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Authors: Gillian I Rice; Jacquelyn Bond; Aruna Asipu; Rebecca L Brunette; Iain W Manfield; Ian M Carr; Jonathan C Fuller; Richard M Jackson; Teresa Lamb; Tracy A Briggs; Manir Ali; Hannah Gornall; Lydia R Couthard; Alec Aeby; Simon P Attard-Montalto; Enrico Bertini; Christine Bodemer; Knut Brockmann; Louise A Brueton; Peter C Corry; Isabelle Desguerre; Elisa Fazzi; Angels Garcia Cazorla; Blanca Gener; Ben C J Hamel; Arvid Heiberg; Matthew Hunter; Marjo S van der Knaap; Ram Kumar; Lieven Lagae; Pierre G Landrieu; Charles M Lourenco; Daphna Marom; Michael F McDermott; William van der Merwe; Simona Orcesi; Julie S Prendiville; Magnhild Rasmussen; Stavit A Shalev; Doriette M Soler; Marwan Shinawi; Ronen Spiegel; Tiong Y Tan; Adeline Vanderver; Emma L Wakeling; Evangeline Wassmer; Elizabeth Whittaker; Pierre Lebon; Daniel B Stetson; David T Bonthron; Yanick J Crow
Journal: Nat Genet Date: 2009-06-14 Impact factor: 38.330

4. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

Authors: Holger Thiele; Marcel du Moulin; Katarzyna Barczyk; Christel George; Wolfram Schwindt; Gudrun Nürnberg; Michael Frosch; Gerhard Kurlemann; Johannes Roth; Peter Nürnberg; Frank Rutsch
Journal: Hum Mutat Date: 2010-11 Impact factor: 4.878

4 in total

11 in total

1. Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors: Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal: N Engl J Med Date: 2014-02-19 Impact factor: 91.245

2. SAMHD1 deficient human monocytes autonomously trigger type I interferon.

Authors: Alicia Martinez-Lopez; Marta Martin-Fernandez; Sofija Buta; Baek Kim; Dusan Bogunovic; Felipe Diaz-Griffero
Journal: Mol Immunol Date: 2018-08-09 Impact factor: 4.407

Review 3. Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Authors: Joanne Ng; Apostolos Papandreou; Simon J Heales; Manju A Kurian
Journal: Nat Rev Neurol Date: 2015-09-22 Impact factor: 42.937

Review 4. A Multi-Model Pipeline for Translational Intracerebral Haemorrhage Research.

Authors: Sarah E Withers; Adrian R Parry-Jones; Stuart M Allan; Paul R Kasher
Journal: Transl Stroke Res Date: 2020-07-07 Impact factor: 6.829

Review 5. Human disease phenotypes associated with mutations in TREX1.

Authors: Gillian I Rice; Mathieu P Rodero; Yanick J Crow
Journal: J Clin Immunol Date: 2015-03-04 Impact factor: 8.317

6. A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

Authors: Tommy E White; Alberto Brandariz-Nuñez; Alicia Martinez-Lopez; Caitlin Knowlton; Gina Lenzi; Baek Kim; Dmitri Ivanov; Felipe Diaz-Griffero
Journal: Hum Mutat Date: 2017-05-02 Impact factor: 4.878

Review 7. Therapies in Aicardi-Goutières syndrome.

Authors: Y J Crow; A Vanderver; S Orcesi; T W Kuijpers; G I Rice
Journal: Clin Exp Immunol Date: 2014-01 Impact factor: 4.330

8. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Authors: Gillian I Rice; Gabriella M A Forte; Marcin Szynkiewicz; Diana S Chase; Alec Aeby; Mohamed S Abdel-Hamid; Sam Ackroyd; Rebecca Allcock; Kathryn M Bailey; Umberto Balottin; Christine Barnerias; Genevieve Bernard; Christine Bodemer; Maria P Botella; Cristina Cereda; Kate E Chandler; Lyvia Dabydeen; Russell C Dale; Corinne De Laet; Christian G E L De Goede; Mireia Del Toro; Laila Effat; Noemi Nunez Enamorado; Elisa Fazzi; Blanca Gener; Madli Haldre; Jean-Pierre S-M Lin; John H Livingston; Charles Marques Lourenco; Wilson Marques; Patrick Oades; Pärt Peterson; Magnhild Rasmussen; Agathe Roubertie; Johanna Loewenstein Schmidt; Stavit A Shalev; Rogelio Simon; Ronen Spiegel; Kathryn J Swoboda; Samia A Temtamy; Grace Vassallo; Catheline N Vilain; Julie Vogt; Vanessa Wermenbol; William P Whitehouse; Doriette Soler; Ivana Olivieri; Simona Orcesi; Mona S Aglan; Maha S Zaki; Ghada M H Abdel-Salam; Adeline Vanderver; Kai Kisand; Flore Rozenberg; Pierre Lebon; Yanick J Crow
Journal: Lancet Neurol Date: 2013-10-30 Impact factor: 44.182

9. SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.

Authors: André Berger; Andreas F R Sommer; Jenny Zwarg; Matthias Hamdorf; Karin Welzel; Nicole Esly; Sylvia Panitz; Andreas Reuter; Irene Ramos; Asavari Jatiani; Lubbertus C F Mulder; Ana Fernandez-Sesma; Frank Rutsch; Viviana Simon; Renate König; Egbert Flory
Journal: PLoS Pathog Date: 2011-12-08 Impact factor: 6.823

10. SAMHD1 specifically restricts retroviruses through its RNase activity.

Authors: Jongsu Choi; Jeongmin Ryoo; Changhoon Oh; Sungyeon Hwang; Kwangseog Ahn
Journal: Retrovirology Date: 2015-06-02 Impact factor: 4.602