Literature DB >> 24139028

C9orf72-associated FTD/ALS: when less is more.

Peter K Todd1, Henry L Paulson.   

Abstract

Hexanucleotide repeat expansions in C9ORF72 cause neurodegeneration in FTD and ALS by unknown mechanisms. A new report, by Donnelly et al. (2013), finds that these repeats trigger a pathogenic gain-of-function cascade that can be corrected by suppressing expression of the repeat transcript, paving the way for therapeutic strategies aimed at eliminating the toxic RNA.
Copyright © 2013 Elsevier Inc. All rights reserved.

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Year:  2013        PMID： 24139028      PMCID： PMC4982762          DOI： 10.1016/j.neuron.2013.10.010

Source DB:  PubMed          Journal:  Neuron        ISSN： 0896-6273            Impact factor:   17.173


  17 in total

1.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

2.  Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.

Authors:  Peter E A Ash; Kevin F Bieniek; Tania F Gendron; Thomas Caulfield; Wen-Lang Lin; Mariely Dejesus-Hernandez; Marka M van Blitterswijk; Karen Jansen-West; Joseph W Paul; Rosa Rademakers; Kevin B Boylan; Dennis W Dickson; Leonard Petrucelli
Journal:  Neuron       Date:  2013-02-12       Impact factor: 17.173

3.  The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures.

Authors:  Kaalak Reddy; Bita Zamiri; Sabrina Y R Stanley; Robert B Macgregor; Christopher E Pearson
Journal:  J Biol Chem       Date:  2013-02-19       Impact factor: 5.157

4.  hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations.

Authors:  Kohji Mori; Sven Lammich; Ian R A Mackenzie; Ignasi Forné; Sonja Zilow; Hans Kretzschmar; Dieter Edbauer; Jonathan Janssens; Gernot Kleinberger; Marc Cruts; Jochen Herms; Manuela Neumann; Christine Van Broeckhoven; Thomas Arzberger; Christian Haass
Journal:  Acta Neuropathol       Date:  2013-02-05       Impact factor: 17.088

Review 5.  Pathogenic mechanisms of myotonic dystrophy.

Authors:  Johanna E Lee; Thomas A Cooper
Journal:  Biochem Soc Trans       Date:  2009-12       Impact factor: 5.407

6.  The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

Authors:  Kohji Mori; Shih-Ming Weng; Thomas Arzberger; Stephanie May; Kristin Rentzsch; Elisabeth Kremmer; Bettina Schmid; Hans A Kretzschmar; Marc Cruts; Christine Van Broeckhoven; Christian Haass; Dieter Edbauer
Journal:  Science       Date:  2013-02-07       Impact factor: 47.728

7.  Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration.

Authors:  Zihui Xu; Mickael Poidevin; Xuekun Li; Yujing Li; Liqi Shu; David L Nelson; He Li; Chadwick M Hales; Marla Gearing; Thomas S Wingo; Peng Jin
Journal:  Proc Natl Acad Sci U S A       Date:  2013-04-03       Impact factor: 11.205

8.  Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.

Authors:  Zhengrui Xi; Lorne Zinman; Danielle Moreno; Jennifer Schymick; Yan Liang; Christine Sato; Yonglan Zheng; Mahdi Ghani; Samar Dib; Julia Keith; Janice Robertson; Ekaterina Rogaeva
Journal:  Am J Hum Genet       Date:  2013-05-23       Impact factor: 11.025

9.  RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.

Authors:  Christopher J Donnelly; Ping-Wu Zhang; Jacqueline T Pham; Aaron R Haeusler; Aaron R Heusler; Nipun A Mistry; Svetlana Vidensky; Elizabeth L Daley; Erin M Poth; Benjamin Hoover; Daniel M Fines; Nicholas Maragakis; Pentti J Tienari; Leonard Petrucelli; Bryan J Traynor; Jiou Wang; Frank Rigo; C Frank Bennett; Seth Blackshaw; Rita Sattler; Jeffrey D Rothstein
Journal:  Neuron       Date:  2013-10-16       Impact factor: 17.173

10.  Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

Authors:  Pietro Fratta; Mark Poulter; Tammaryn Lashley; Jonathan D Rohrer; James M Polke; Jon Beck; Natalie Ryan; Davina Hensman; Sarah Mizielinska; Adrian J Waite; Mang-Ching Lai; Tania F Gendron; Leonard Petrucelli; Elizabeth M C Fisher; Tamas Revesz; Jason D Warren; John Collinge; Adrian M Isaacs; Simon Mead
Journal:  Acta Neuropathol       Date:  2013-07-02       Impact factor: 17.088
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  3 in total

Review 1.  Reverse engineering human neurodegenerative disease using pluripotent stem cell technology.

Authors:  Ying Liu; Wenbin Deng
Journal:  Brain Res       Date:  2015-09-28       Impact factor: 3.252

Review 2.  RNA toxicity and foci formation in microsatellite expansion diseases.

Authors:  Nan Zhang; Tetsuo Ashizawa
Journal:  Curr Opin Genet Dev       Date:  2017-02-14       Impact factor: 5.578

Review 3.  The neurogenetics of atypical parkinsonian disorders.

Authors:  Brent L Fogel; Mary C Clark; Daniel H Geschwind
Journal:  Semin Neurol       Date:  2014-06-25       Impact factor: 3.420
  3 in total

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