Mice with endogenous TDP ‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

Mice with endogenous TDP ‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

Published:2018-05-15 Issue:11 Volume:37 Page:
ISSN:0261-4189
Container-title:The EMBO Journal
language:en
Short-container-title:EMBO J

Author:

Fratta Pietro¹^ORCID,Sivakumar Prasanth¹,Humphrey Jack¹²,Lo Kitty²,Ricketts Thomas³,Oliveira Hugo³,Brito‐Armas Jose M⁴,Kalmar Bernadett¹,Ule Agnieszka¹,Yu Yichao⁵,Birsa Nicol¹,Bodo Cristian¹,Collins Toby¹,Conicella Alexander E⁶,Mejia Maza Alan¹,Marrero‐Gagliardi Alessandro⁴,Stewart Michelle⁷,Mianne Joffrey⁷^ORCID,Corrochano Silvia³,Emmett Warren²,Codner Gemma⁷,Groves Michael¹,Fukumura Ryutaro⁸,Gondo Yoichi⁸,Lythgoe Mark⁵,Pauws Erwin⁹,Peskett Emma⁹,Stanier Philip⁹^ORCID,Teboul Lydia⁷,Hallegger Martina¹⁰,Calvo Andrea¹¹,Chiò Adriano¹¹,Isaacs Adrian M¹¹²^ORCID,Fawzi Nicolas L¹³^ORCID,Wang Eric¹⁴,Housman David E¹⁴,Baralle Francisco¹⁵,Greensmith Linda¹,Buratti Emanuele¹⁵^ORCID,Plagnol Vincent²,Fisher Elizabeth MC¹,Acevedo‐Arozena Abraham³⁴^ORCID

Affiliation:

1. UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease London UK

2. UCL Genetics Institute London UK

3. MRC Mammalian Genetics Unit Harwell UK

4. Unidad de Investigación Hospital Universitario de Canarias Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas (CIBICAN) La Laguna Spain

5. UCL Centre for Advanced Biomedical Imaging University College London London UK

6. Graduate Program in Molecular Biology, Cell Biology and Biochemistry Brown University Providence RI USA

7. MRC Mary Lyon Centre Harwell UK

8. Mutagenesis and Genomics Team RIKEN BioResource Center Tsukuba Ibaraki Japan

9. UCL Institute of Child Health London UK

10. UCL Institute of Neurology and Francis Crick Institute London UK

11. Rita Levi Montalcini Department of Neuroscience University of Turin Turin Italy

12. UK Dementia Research Institute at UCL UCL Institute of Neurology London UK

13. Department of Molecular Pharmacology, Physiology & Biotechnology Brown University Providence RI USA

14. Department of Biology Massachusetts Institute of Technology Cambridge MA USA

15. International Center for Genomic Engineering and Biotechnology (ICGEB) Trieste Italy

Funder

Fondation Thierry Latran

Amyotrophic Lateral Sclerosis Association

Medical Research Council

Instituto de Salud Carlos III

Rosetrees Trust

Publisher

EMBO

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,Molecular Biology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/embj.201798684

Reference42 articles.

1. ENU Mutagenesis, a Way Forward to Understand Gene Function

2. ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

3. Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection

4. TDP-43 regulates its mRNA levels through a negative feedback loop

5. Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator ofCFTR Exon 9

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