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Journal article

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.

Abstract:

Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1 and TARDBP accounts for a small percentage of cases, and other genes have shown association in both candidate gene and genome-wide studies, but the genetic causes remain largely unknown. We have performed two independent parallel studies, both implicating the RNA polymerase II component, ELP3, in ax...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddn375

Authors


Simpson, CL More by this author
Lemmens, R More by this author
Miskiewicz, K More by this author
Hansen, VK More by this author
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Journal:
Human molecular genetics
Volume:
18
Issue:
3
Pages:
472-481
Publication date:
2009-02-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:2e0b0cb1-ec2c-40b4-9ff1-569f46bc4583
Source identifiers:
373932
Local pid:
pubs:373932

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