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NBEAL2 interactome: comparison between healthy donors and grey platelet syndrome (NBEAL2 deficient) patients activated T cells samples.

ABSTRACT: Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanism, which might be related to the proteins NBEAL2 interacts with, specifically in immune cells. Here we show a comprehensive interactome of NBEAL2 in primary T cells, based on mass spectrometry identification of altogether 76 protein association partners. These include LRBA, a member of the same BEACH domain family as NBEAL2, recessive mutations of which cause autoimmunity and lymphocytic infiltration through defective CTLA-4 trafficking

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Dr. Frédéric Rieux-Laucat

PROVIDER: PXD042180 | JPOST Repository | Fri May 12 00:00:00 BST 2023

REPOSITORIES: jPOST

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