Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.

ABSTRACT: Noonan syndrome (NS) and related Noonan syndrome with multiple lentigines (NSML) contribute to the pathogenesis of human diseases in the RASopathy family. This family of genetic disorders constitute one of the largest groups of developmental disorders with variable penetrance and severity, associated with distinctive congenital disabilities, including facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and tumor predisposition. NS was first clinically described decades ago, and several genes have since been identified, providing a molecular foundation to understand their physiopathology and identify targets for therapeutic strategies. These genes encode proteins that participate in, or regulate, RAS/MAPK signalling. The RAS pathway reg

SUBMITTER: Bajia D 

PROVIDER: S-EPMC9563972 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature