A SUGGESTED ROLE FOR MITOCHONDRIA IN NOONAN SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder, and a main feature is congenital heart malformation. About 50% of cases are caused by gain of function mutations in the tyrosine phosphatase SHP2/PTPN11, a downstream regulator of ERK/MAPK. Recently it was reported that SHP2 also localizes to t...

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Main Authors: Lee, Icksoo, Pecinova, Alena, Pecina, Petr, Neel, Benjamin G., Araki, Toshiyuki, Kucherlapati, Raju, Roberts, Amy E., Huttemann, Maik
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2878584/
https://ncbi.nlm.nih.gov/pubmed/19835954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2009.10.005
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