Mechanistic contributions of FBXO7 to Parkinson disease

J Neurochem. 2018 Jan;144(2):118-127. doi: 10.1111/jnc.14253. Epub 2017 Dec 11.

Abstract

Parkinson disease (PD) is, without doubt, a burden on modern society as the prevalence increases significantly with age. Owing to this growing number of PD cases, it is more critical than ever to understand the pathogenic mechanisms underlying PD to identify therapeutic targets. The discovery of genetic mutations associated with PD and parkinsonism paves the way toward this goal. Even though, familial forms of the disease represent the minority of PD cases and some forms are so rare that there are only a few affected families, the research on the associated genes is invaluable. Recent additions to PARK mutations are those in PARK15 that encodes the F-box protein O-type 7 (FBXO7). In this review, we highlight the recent research on FBXO7, which advances our knowledge of the etiopathological pathways and fills unexpected gaps therein, justifying the dedicated study of rare variants of PD.

Keywords: FBXO7; Parkinson disease; mitochondria; parkinsonism; ubiquitin proteasome system.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Blepharospasm / genetics
  • F-Box Proteins / genetics*
  • F-Box Proteins / metabolism*
  • Globus Pallidus
  • Humans
  • Mice
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism*
  • Parkinson Disease, Secondary / genetics

Substances

  • F-Box Proteins
  • FBXO7 protein, human

Supplementary concepts

  • Pallidopyramidal syndrome