Article
FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele.
PloS one - 1 Jan 2019
Ballesteros Reviriego Carmen, Clare Simon, Arends Mark J, Cambridge Emma L, Swiatkowska Agnieszka, Caetano Susana, Abu-Helil Bushra, Kane Leanne, Harcourt Katherine, Goulding David A, Gleeson Diane, Ryder Edward, Doe Brendan, White Jacqueline K, van der Weyden Louise, Dougan Gordon, Adams David J, Speak Anneliese O
Abstract excerpt
FBXO7 encodes an F box containing protein that interacts with multiple partners to facilitate numerous cellular processes and has a canonical role as part of an SCF E3 ubiquitin ligase complex. Mutation of FBXO7 is responsible for an early onset Parkinsonian pyramidal syndrome and genome-wide association studies have linked variants in FBXO7 to erythroid traits. A putative orthologue in Drosophila, nutcracker,...
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