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Study of an FBXO7 patient mutation reveals Fbxo7 and PI 31 co‐regulate proteasomes and mitochondria

11 Mar 2024

Abstract excerpt

Mutations in FBXO7 have been discovered to be associated with an atypical parkinsonism. We report here a new homozygous missense mutation in a paediatric patient that causes an L250P substitution in the dimerisation 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...

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PMID: 38466799
DOI: 10.1111/febs.17114

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Study of an FBXO7 patient mutation reveals Fbxo7 and PI 31 co‐regulate proteasomes and mitochondriaPMID 38466799Read ↗

Study of an <i>FBXO7</i> patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondriaSemantic proximity Read ↗

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