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TRAF7 mutations stabilize K/NRAS and hyperactivate MAPK signaling to cause CAFDADD neurodevelopmental defects

Man Xiao, Ying Liu, Xiaozhen Song, Jingxuan Liu, Xiaojun Tang, 窦茂森 Dou Maosen, Wei Yu, Hao Zhang, WenHao Weng, Dingding Han, Xiaoping Lan, Tingting Zhao, Chenji Wang, Lixiang Ma, Nan‐Jie Xu, Shengnan Wu

Peer-reviewed journalReal-world use

In the authors' words

This journal does not let us republish the full abstract. Here are the two sentences Pipette selected, quoted from it. Read the rest at the publisher.

Main result
Together, our findings identify TRAF7 as a critical posttranslational regulator of RAS proteostasis during development and uncover a pivotal mechanistic link between impaired RAS ubiquitination and CAFDADD pathogenesis, providing preliminary clinical-front evidence for targeting the MAPK pathway to manage ongoing developmental deficits in TRAF7-associated disorders.
Limitation the authors admit
Together, our findings identify TRAF7 as a critical posttranslational regulator of RAS proteostasis during development and uncover a pivotal mechanistic link between impaired RAS ubiquitination and CAFDADD pathogenesis, providing preliminary clinical-front evidence for targeting the MAPK pathway to manage ongoing developmental deficits in TRAF7-associated disorders.
Read the paper

Appeared: Sunday, September 27. Science Advances. Peer-reviewed journal.

DOI: 10.1126/sciadv.adw8672

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