Literature DB >> 29703376

All in the Family: Repeats and ALS/FTD.

Amrutha Pattamatta1, John D Cleary1, Laura P W Ranum2.   

Abstract

In 2011, an intronic (G4C2)•(G2C4) expansion was shown to cause the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research.
Copyright © 2018 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  ALS; C9orf72; CCGGGG; FTD; GGGGCC; RAN translation; RNA foci; amyotrophic lateral sclerosis; frontotemporal dementia; repeat-associated non-ATG translation

Mesh：

Substances：

Year:  2018        PMID： 29703376      PMCID： PMC5965280          DOI： 10.1016/j.tins.2018.03.010

Source DB:  PubMed          Journal:  Trends Neurosci        ISSN： 0166-2236            Impact factor:   13.837


  15 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

Review 2.  Repeat instability: mechanisms of dynamic mutations.

Authors:  Christopher E Pearson; Kerrie Nichol Edamura; John D Cleary
Journal:  Nat Rev Genet       Date:  2005-10       Impact factor: 53.242

3.  Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.

Authors:  Clotilde Lagier-Tourenne; Michael Baughn; Frank Rigo; Shuying Sun; Patrick Liu; Hai-Ri Li; Jie Jiang; Andrew T Watt; Seung Chun; Melanie Katz; Jinsong Qiu; Ying Sun; Shuo-Chien Ling; Qiang Zhu; Magdalini Polymenidou; Kevin Drenner; Jonathan W Artates; Melissa McAlonis-Downes; Sebastian Markmiller; Kasey R Hutt; Donald P Pizzo; Janet Cady; Matthew B Harms; Robert H Baloh; Scott R Vandenberg; Gene W Yeo; Xiang-Dong Fu; C Frank Bennett; Don W Cleveland; John Ravits
Journal:  Proc Natl Acad Sci U S A       Date:  2013-10-29       Impact factor: 11.205

4.  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

5.  Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

Authors:  Melinda L Moseley; Tao Zu; Yoshio Ikeda; Wangcai Gao; Anne K Mosemiller; Randy S Daughters; Gang Chen; Marcy R Weatherspoon; H Brent Clark; Timothy J Ebner; John W Day; Laura P W Ranum
Journal:  Nat Genet       Date:  2006-06-25       Impact factor: 38.330

Review 6.  Partners in crime: bidirectional transcription in unstable microsatellite disease.

Authors:  Ranjan Batra; Konstantinos Charizanis; Maurice S Swanson
Journal:  Hum Mol Genet       Date:  2010-04-04       Impact factor: 6.150

Review 7.  Decoding ALS: from genes to mechanism.

Authors:  J Paul Taylor; Robert H Brown; Don W Cleveland
Journal:  Nature       Date:  2016-11-10       Impact factor: 49.962

8.  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

9.  C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.

Authors:  Yuanjing Liu; Amrutha Pattamatta; Tao Zu; Tammy Reid; Olgert Bardhi; David R Borchelt; Anthony T Yachnis; Laura P W Ranum
Journal:  Neuron       Date:  2016-04-21       Impact factor: 17.173

10.  Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

Authors:  Caroline Vance; Ammar Al-Chalabi; Deborah Ruddy; Bradley N Smith; Xun Hu; Jemeen Sreedharan; Teepu Siddique; H Jurgen Schelhaas; Benno Kusters; Dirk Troost; Frank Baas; Vianney de Jong; Christopher E Shaw
Journal:  Brain       Date:  2006-02-22       Impact factor: 13.501
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  2 in total

Review 1.  DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms.

Authors:  Loredana Poeta; Denise Drongitis; Lucia Verrillo; Maria Giuseppina Miano
Journal:  Genes (Basel)       Date:  2020-06-22       Impact factor: 4.096

2.  Sigma-1 receptor chaperones rescue nucleocytoplasmic transport deficit seen in cellular and Drosophila ALS/FTD models.

Authors:  Pin-Tse Lee; Jean-Charles Liévens; Shao-Ming Wang; Jian-Ying Chuang; Bilal Khalil; Hsiang-En Wu; Wen-Chang Chang; Tangui Maurice; Tsung-Ping Su
Journal:  Nat Commun       Date:  2020-11-04       Impact factor: 14.919
  2 in total

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