Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain

The predominant X-linked form of Dyskeratosis congenita results from mutations in dyskerin, a protein required for ribosomal RNA modification that is also a component of the telomerase complex. We have previously found that expression of an internal fragment of dyskerin (GSE24.2) rescues telomerase...

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Hlavní autoři: Machado-Pinilla, R, Carrillo, J., Manguan-Garcia, C, Sastre, L, Mentzer, A, Gu, B-W, Mason, PJ, Perona, R
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3643512/
https://ncbi.nlm.nih.gov/pubmed/22855157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12094-012-0865-4
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