Article

Study of an <i>FBXO7</i> patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria

2021-12-23

Abstract excerpt

Mutations in FBXO7 have been discovered associated with an atypical parkinsonism. We report here a new homozygous missense mutation in a paediatric patient that causes an L250P substitution in the dimerization domain of Fbxo7. This alteration selectively ablates the Fbxo7-PI31 interaction and causes a significant reduction in Fbxo7 and PI31 levels in patient cells. Consistent with their association with proteasom...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 29048d9f-7f5d-5261-8671-ca4ed80bfeb4
DOI: 10.1101/2021.12.22.473884

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Study of an <i>FBXO7</i> patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondriaDOI 10.1101/2021.12.22.473884Read

Study of an FBXO7 patient mutation reveals Fbxo7 and PI 31 co‐regulate proteasomes and mitochondriaSemantic proximity Read

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

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.Semantic proximity Read

The role of FBXO7 in mitochondrial biology and Parkinson's diseaseSemantic proximity Read

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial functionSemantic proximity Read

Structural basis for regulation of the proteasome 20S core particle by the Parkinsonism-associated proteins FBXO7 and PI31Semantic proximity Read

Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins.Semantic proximity Read

FBXO7/ntc and USP30 antagonistically set the ubiquitination threshold for basal mitophagy and provides a target for Pink1 phosphorylation <i>in vivo</i>Semantic proximity Read

FBXO7/ntc and USP30 antagonistically set the ubiquitination threshold for basal mitophagy and provide a target for Pink1 phosphorylation in vivoSemantic proximity Read

The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.Semantic proximity Read

Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease.Semantic proximity Read

F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy.Semantic proximity Read