Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

The X-linked lethal Ogden syndrome was the first reported human genetic disorder associated with a mutation in an N-terminal acetyltransferase (NAT) gene. The affected males harbor an Ser37Pro (S37P) mutation in the gene encoding Naa10, the catalytic subunit of NatA, the major human NAT involved in...

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Udgivet i:Hum Mol Genet
Main Authors: Myklebust, Line M., Van Damme, Petra, Støve, Svein I., Dörfel, Max J., Abboud, Angèle, Kalvik, Thomas V., Grauffel, Cedric, Jonckheere, Veronique, Wu, Yiyang, Swensen, Jeffrey, Kaasa, Hanna, Liszczak, Glen, Marmorstein, Ronen, Reuter, Nathalie, Lyon, Gholson J., Gevaert, Kris, Arnesen, Thomas
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4355026/
https://ncbi.nlm.nih.gov/pubmed/25489052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu611
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