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Article

FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition.

Human mutation - 1 Jan 2026

Savasta S, Comisi F F, Fiumicelli E, Dell'Isola G B, Di Pasquale G, Mangano G D, Zagaroli L, Salpietro V, Verrotti A

Abstract excerpt

F-box and WD repeat domain-containing 7 (FBXW7) encodes the substrate-recognition subunit of the SCF (SKP1-CUL1-F-box) E3 ubiquitin ligase complex, where it regulates proteasome-mediated degradation of key cell cycle and developmental proteins. The aim of this review is to provide a comprehensive overview of the currently available evidence on the clinical and molecular features of FBXW7-related...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42111496
DOI: 10.1155/humu/3764750
PMCID: PMC13156469

Genes

CUL1
MYC
NOTCH1
SKP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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