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Article

A suggested role for mitochondria in Noonan syndrome.

Biochimica et biophysica acta - 1 Feb 2010

Lee Icksoo, Pecinova Alena, Pecina Petr, Neel Benjamin G, Araki Toshiyuki, Kucherlapati Raju, Roberts Amy E, Hüttemann Maik

Abstract excerpt

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 the mitochondrial intercristae/intermembrane space (IMS), but the role of SHP2 in mitochondria is unclear. The...

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Identifiers

PMID: 19835954
DOI: 10.1016/j.bbadis.2009.10.005
PMCID: PMC2878584

Genes

PTPN11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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