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Article

A new mutation in the Parkinson's-related FBXO7 gene impairs mitochondrial and proteasomal function.

The FEBS journal - 1 Jun 2024

Navarro Elisa, Esteras Noemí

Abstract excerpt

Around 10% of Parkinson's disease (PD) cases are associated with mutations in various genes, including FBXO7, which encodes the substrate-recognition component for the Skp1-Cullin-F-box (SCF) class of ubiquitin E3 ligases that target proteins for proteasomal degradation. In their recent study, Al Rawi et al. characterized a new mutation in FBXO7, L250P, in a pediatric patient. Their findings reveal that the L250P...

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Identifiers

PMID: 38708447
DOI: 10.1111/febs.17155

Genes

FBXO7

Variants

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