Literature DB >> 23439112

RANTing about C9orf72.

Tammaryn Lashley1, John Hardy, Adrian M Isaacs.   

Abstract

A noncoding repeat expansion in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. In this issue of Neuron, Ash et al. (2013) show that despite being noncoding the repeats are translated, leading to widespread neuronal aggregates of the translated proteins.
Copyright © 2013 Elsevier Inc. All rights reserved.

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Year:  2013        PMID： 23439112     DOI： 10.1016/j.neuron.2013.02.009

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


  12 in total

1.  Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.

Authors:  Olga Pletnikova; Kelly L Sloane; Alan E Renton; Bryan J Traynor; Barbara J Crain; Tammy Reid; Tao Zu; Laura P W Ranum; Juan C Troncoso; Peter V Rabins; Chiadi U Onyike
Journal:  Neurobiol Aging       Date:  2014-04-18       Impact factor: 4.673

Review 2.  The Role of Sex and Sex Hormones in Neurodegenerative Diseases.

Authors:  Elisabetta Vegeto; Alessandro Villa; Sara Della Torre; Valeria Crippa; Paola Rusmini; Riccardo Cristofani; Mariarita Galbiati; Adriana Maggi; Angelo Poletti
Journal:  Endocr Rev       Date:  2020-04-01       Impact factor: 19.871

3.  Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat.

Authors:  Daniel R Scoles; Mi H T Ho; Warunee Dansithong; Lance T Pflieger; Lance W Petersen; Khanh K Thai; Stefan M Pulst
Journal:  PLoS One       Date:  2015-06-18       Impact factor: 3.240

Review 4.  C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

Authors:  Sarah Mizielinska; Adrian M Isaacs
Journal:  Curr Opin Neurol       Date:  2014-10       Impact factor: 5.710

5.  The small heat shock protein B8 (HSPB8) efficiently removes aggregating species of dipeptides produced in C9ORF72-related neurodegenerative diseases.

Authors:  Riccardo Cristofani; Valeria Crippa; Giulia Vezzoli; Paola Rusmini; Mariarita Galbiati; Maria Elena Cicardi; Marco Meroni; Veronica Ferrari; Barbara Tedesco; Margherita Piccolella; Elio Messi; Serena Carra; Angelo Poletti
Journal:  Cell Stress Chaperones       Date:  2017-06-12       Impact factor: 3.667

6.  Inhibition of retrograde transport modulates misfolded protein accumulation and clearance in motoneuron diseases.

Authors:  Riccardo Cristofani; Valeria Crippa; Paola Rusmini; Maria Elena Cicardi; Marco Meroni; Nausicaa V Licata; Gessica Sala; Elisa Giorgetti; Christopher Grunseich; Mariarita Galbiati; Margherita Piccolella; Elio Messi; Carlo Ferrarese; Serena Carra; Angelo Poletti
Journal:  Autophagy       Date:  2017-08-03       Impact factor: 16.016

7.  C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.

Authors:  Sarah Mizielinska; Sebastian Grönke; Teresa Niccoli; Charlotte E Ridler; Emma L Clayton; Anny Devoy; Thomas Moens; Frances E Norona; Ione O C Woollacott; Julian Pietrzyk; Karen Cleverley; Andrew J Nicoll; Stuart Pickering-Brown; Jacqueline Dols; Melissa Cabecinha; Oliver Hendrich; Pietro Fratta; Elizabeth M C Fisher; Linda Partridge; Adrian M Isaacs
Journal:  Science       Date:  2014-08-07       Impact factor: 47.728

8.  C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Authors:  Davina J Hensman Moss; Mark Poulter; Jon Beck; Jason Hehir; James M Polke; Tracy Campbell; Garry Adamson; Ese Mudanohwo; Peter McColgan; Andrea Haworth; Edward J Wild; Mary G Sweeney; Henry Houlden; Simon Mead; Sarah J Tabrizi
Journal:  Neurology       Date:  2013-12-20       Impact factor: 9.910

9.  Differential autophagy power in the spinal cord and muscle of transgenic ALS mice.

Authors:  Valeria Crippa; Alessandra Boncoraglio; Mariarita Galbiati; Tanya Aggarwal; Paola Rusmini; Elisa Giorgetti; Riccardo Cristofani; Serena Carra; Maria Pennuto; Angelo Poletti
Journal:  Front Cell Neurosci       Date:  2013-11-26       Impact factor: 5.505

Review 10.  Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective.

Authors:  Stephanie A Fernandes; Andrew G L Douglas; Miguel A Varela; Matthew J A Wood; Yoshitsugu Aoki
Journal:  J Nucleic Acids       Date:  2013-11-17
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