RAS signalling in energy metabolism and rare human diseases

Biochimica Et Biophysica Acta. Bioenergetics
L DardR Rossignol

Abstract

The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies. Individuals with RASopathies, which are estimated to affect approximately 1/1000 human birth, share many overlapping characteristics, including cardiac malformations, short stature, neurocognitive impairment, craniofacial dysmorphy, cutaneous, musculoskeletal, and ocular abnormalities, hypotonia and a predisposition to developing cancer. Since the identification of the first RASopathy, type 1 neurofibromatosis (NF1), which is caused by the inactivation of neurofibromin 1, several other syndromes have been associated with mutations in the core components of the RAS-MAPK pathway. These syndromes include Noonan syndrome (NS), Noonan syndro...Continue Reading

Citations

Jun 20, 2019·Frontiers in Molecular Neuroscience·Liang QuYuan Wang
Apr 27, 2019·Frontiers in Physiology·Ivan K PopovChenbei Chang
Aug 28, 2020·The Journal of International Medical Research·Jian GongQiao Liu
Jun 14, 2019·Global Pediatric Health·Amani Ali DavisKen K Nischal
Jun 24, 2020·Journal of Medical Genetics·Roope A KallionpääJuha Peltonen
Aug 17, 2019·Royal Society Open Science·Zhilong MiZhiming Zheng
Oct 21, 2020·Journal of Cachexia, Sarcopenia and Muscle·Xiaoyan WeiSigmar Stricker
Jan 1, 2021·American Journal of Medical Genetics. Part a·Renata M NoronhaAlexsandra C Malaquias
Feb 8, 2020·Molecular Aspects of Medicine·L DardR Rossignol
Feb 27, 2021·Frontiers in Surgery·Ethan J KilmisterSwee T Tan
May 20, 2021·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Xin FanNan Wu

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