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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355026/
https://www.ncbi.nlm.nih.gov/pubmed/25489052
http://dx.doi.org/10.1093/hmg/ddu611

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355026/
https://www.ncbi.nlm.nih.gov/pubmed/25489052
http://dx.doi.org/10.1093/hmg/ddu611

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