MAGT1 Deficiency Dysregulates Platelet Cation Homeostasis and Accelerates Arterial Thrombosis and Ischemic Stroke in Mice.

Fiche publication

Date publication

juin 2023

Journal

Arteriosclerosis, thrombosis, and vascular biology

Auteurs

Membres identifiés du Cancéropôle Est :
Dr FREUND Jean-Noël

Tous les auteurs :
Gotru SK, Mammadova-Bach E, Sogkas G, Schuhmann MK, Schmitt K, Kraft P, Herterich S, Mamtimin M, Pinarci A, Beck S, Stritt S, Chao H, Ren P, Freund JN, Klemann C, Ringshausen FC, Heemskerk JWM, Dietrich A, Nieswandt B, Stoll G, Gudermann T, Braun A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/37381987

Résumé

MAGT1 (magnesium transporter 1) is a subunit of the oligosaccharide protein complex with thiol-disulfide oxidoreductase activity, supporting the process of N-glycosylation. MAGT1 deficiency was detected in human patients with X-linked immunodeficiency with magnesium defect syndrome and congenital disorders of glycosylation, resulting in decreased cation responses in lymphocytes, thereby inhibiting the immune response against viral infections. Curative hematopoietic stem cell transplantation of patients with X-linked immunodeficiency with magnesium defect causes fatal bleeding and thrombotic complications.