Literature DB >> 28251139

Loss of C9orf72 function leads to autoimmunity.

Lazaros I Sakkas1, Dimitrios P Bogdanos1, Eleni E Kousvelari2.   

Abstract

Entities:  

Year:  2017        PMID: 28251139      PMCID: PMC5326657          DOI: 10.21037/atm.2017.01.33

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN: 2305-5839


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  19 in total

Review 1.  Autophagy: renovation of cells and tissues.

Authors:  Noboru Mizushima; Masaaki Komatsu
Journal:  Cell       Date:  2011-11-11       Impact factor: 41.582

2.  Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.

Authors:  Aaron Burberry; Naoki Suzuki; Jin-Yuan Wang; Rob Moccia; Daniel A Mordes; Morag H Stewart; Satomi Suzuki-Uematsu; Sulagna Ghosh; Ajay Singh; Florian T Merkle; Kathryn Koszka; Quan-Zhen Li; Leonard Zon; Derrick J Rossi; Jennifer J Trowbridge; Luigi D Notarangelo; Kevin Eggan
Journal:  Sci Transl Med       Date:  2016-07-13       Impact factor: 17.956

Review 3.  TBK1 mediates crosstalk between the innate immune response and autophagy.

Authors:  Hilla Weidberg; Zvulun Elazar
Journal:  Sci Signal       Date:  2011-08-09       Impact factor: 8.192

4.  C9orf72 is required for proper macrophage and microglial function in mice.

Authors:  J G O'Rourke; L Bogdanik; A Yáñez; D Lall; A J Wolf; A K M G Muhammad; R Ho; S Carmona; J P Vit; J Zarrow; K J Kim; S Bell; M B Harms; T M Miller; C A Dangler; D M Underhill; H S Goodridge; C M Lutz; R H Baloh
Journal:  Science       Date:  2016-03-18       Impact factor: 47.728

5.  Mice lacking Tbk1 activity exhibit immune cell infiltrates in multiple tissues and increased susceptibility to LPS-induced lethality.

Authors:  Erica Marchlik; Paresh Thakker; Thaddeus Carlson; Zhaozhao Jiang; Mark Ryan; Suzana Marusic; Nadege Goutagny; Wen Kuang; G Roger Askew; Victoria Roberts; Stephen Benoit; Tianhui Zhou; Vincent Ling; Richard Pfeifer; Nancy Stedman; Katherine A Fitzgerald; Lih-Ling Lin; J Perry Hall
Journal:  J Leukoc Biol       Date:  2010-07-22       Impact factor: 4.962

6.  COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

Authors:  Levi B Watkin; Birthe Jessen; Wojciech Wiszniewski; Timothy J Vece; Max Jan; Youbao Sha; Maike Thamsen; Regie L P Santos-Cortez; Kwanghyuk Lee; Tomasz Gambin; Lisa R Forbes; Christopher S Law; Asbjørg Stray-Pedersen; Mickie H Cheng; Emily M Mace; Mark S Anderson; Dongfang Liu; Ling Fung Tang; Sarah K Nicholas; Karen Nahmod; George Makedonas; Debra L Canter; Pui-Yan Kwok; John Hicks; Kirk D Jones; Samantha Penney; Shalini N Jhangiani; Michael D Rosenblum; Sharon D Dell; Michael R Waterfield; Feroz R Papa; Donna M Muzny; Noah Zaitlen; Suzanne M Leal; Claudia Gonzaga-Jauregui; Eric Boerwinkle; N Tony Eissa; Richard A Gibbs; James R Lupski; Jordan S Orange; Anthony K Shum
Journal:  Nat Genet       Date:  2015-04-20       Impact factor: 38.330

7.  Exome sequencing uncovers hidden pathways in familial and sporadic ALS.

Authors:  Conceição Bettencourt; Henry Houlden
Journal:  Nat Neurosci       Date:  2015-05       Impact factor: 24.884

8.  Autophagy and autoimmunity crosstalks.

Authors:  Abhisek Bhattacharya; N Tony Eissa
Journal:  Front Immunol       Date:  2013-04-15       Impact factor: 7.561

9.  C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

Authors:  Amanda Atanasio; Vilma Decman; Derek White; Meg Ramos; Burcin Ikiz; Hoi-Ching Lee; Chia-Jen Siao; Susannah Brydges; Elizabeth LaRosa; Yu Bai; Wen Fury; Patricia Burfeind; Ralica Zamfirova; Gregg Warshaw; Jamie Orengo; Adelekan Oyejide; Michael Fralish; Wojtek Auerbach; William Poueymirou; Jan Freudenberg; Guochun Gong; Brian Zambrowicz; David Valenzuela; George Yancopoulos; Andrew Murphy; Gavin Thurston; Ka-Man Venus Lai
Journal:  Sci Rep       Date:  2016-03-16       Impact factor: 4.379

10.  The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.

Authors:  Christopher P Webster; Emma F Smith; Claudia S Bauer; Annekathrin Moller; Guillaume M Hautbergue; Laura Ferraiuolo; Monika A Myszczynska; Adrian Higginbottom; Matthew J Walsh; Alexander J Whitworth; Brian K Kaspar; Kathrin Meyer; Pamela J Shaw; Andrew J Grierson; Kurt J De Vos
Journal:  EMBO J       Date:  2016-06-22       Impact factor: 11.598

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  1 in total

Review 1.  C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?

Authors:  Elke Braems; Bart Swinnen; Ludo Van Den Bosch
Journal:  Acta Neuropathol       Date:  2020-09-02       Impact factor: 17.088

  1 in total

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