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Article

Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins.

Orphanet journal of rare diseases - 6 Jul 2021

Montero-Bullón Javier-Fernando, González-Velasco Óscar, Isidoro-García María, Lacal Jesus

Abstract excerpt

BACKGROUND: RASopathies are a group of syndromes showing clinical overlap caused by mutations in genes affecting the RAS-MAPK pathway. Consequent disruption on cellular signaling leads and is driven by phosphoproteome remodeling. However, we still lack a comprehensive picture of the different key players and altered downstream effectors. METHODS: An in silico interactome of RASopathy proteins was generated using...

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PMID: 34229750
DOI: 10.1186/s13023-021-01934-x
PMCID: PMC8258961

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