The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter-Reference-Cited by-同舟云学术

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Published:2015-10-20 Issue:8 Volume:21 Page:1112-1124
ISSN:1359-4184
Container-title:Molecular Psychiatry
language:en
Short-container-title:Mol Psychiatry

Author:

Gijselinck I, ,Van Mossevelde S,van der Zee J,Sieben A,Engelborghs S,De Bleecker J,Ivanoiu A,Deryck O,Edbauer D,Zhang M,Heeman B,Bäumer V,Van den Broeck M,Mattheijssens M,Peeters K,Rogaeva E,De Jonghe P,Cras P,Martin J-J,de Deyn P P,Cruts M,Van Broeckhoven C

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Molecular Biology

Link

http://www.nature.com/articles/mp2015159.pdf

Reference80 articles.

1. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245–256.

2. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012; 11: 54–65.

3. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257–268.

4. Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V et al. C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet 2014; 23: 3579–3595.

5. Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL et al. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol 2014; 128: 505–524.

Cited by 196 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. DNA methylation in amyotrophic lateral sclerosis: where do we stand and what is next?;Epigenomics;2024-09-11

2. Overexpression of Toxic Poly(Glycine-Alanine) Aggregates in Primary Neuronal Cultures Induces Time-Dependent Autophagic and Synaptic Alterations but Subtle Activity Impairments;Cells;2024-08-03

3. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?;Revue Neurologique;2024-05

4. Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model;Nucleic Acids Research;2024-04-10

5. Molecular hallmarks of ageing in amyotrophic lateral sclerosis;Cellular and Molecular Life Sciences;2024-03-02