Proteomics

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Proximity-Dependent Biotin Identification of NHL repeat containing 2 (NHLRC2) and FINCA disease variant(p.Asp148Tyr)

ABSTRACT: BioID analysis was performed on wild type NHLRC2 and NHLRC2 containing a FINCA disease variant (pAsp148Tyr) tagged C-terminally with BirA-FLAG. Stable cells with the genomic insertion of recombinant wild type NHLRC2 and FINCA variant were generated as Flp-In 293 T-REx HEK 293 cell pools and expression of the recombinant protein was induced using tetracycline 24h before sample collection. The samples were collected as triplicates. The biotinylated proteins were isolated using Strep-Tactin beads and analysed using liquid chromatography-MS).

INSTRUMENT(S): LTQ Orbitrap Elite

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Reetta Hinttala  

PROVIDER: MSV000094956 | MassIVE | Fri Jun 07 05:56:00 BST 2024

REPOSITORIES: MassIVE

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Fibrosis, neurodegeneration and cerebral angiomatosis (FINCA) is a childhood-onset neurodevelopmental disorder with multi-organ manifestations, including recurrent infections. It is caused by variants in <i>NHLRC2</i>, initiating a cascade of unknown pathological events. We investigated the FINCA disease-causing p.Asp148Tyr variant in NHLRC2 by analysing transcriptional changes in mouse embryonic stem cells (mESCs). We conducted behavioural and immunological phenotyping of FINCA mice compound he  ...[more]

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