Complement C4-deficient mice have a high mortality rate during PTZ-induced epileptic seizures, which correlates with cognitive problems and the deficiency in the expression of Egr1 and other immediate early genes.
Veremeyko T, Jiang R, He M, Ponomarev ED.
Front Cell Neurosci. 2023 May 10;17:1170031. doi: 10.3389/fncel.2023.1170031. eCollection 2023.
PMID:37234916
Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.
Boteva L, Morris DL, Cortés-Hernández J, Martin J, Vyse TJ, Fernando MM.
Am J Hum Genet. 2012 Mar 9;90(3):445-56. doi: 10.1016/j.ajhg.2012.01.012. Epub 2012 Mar 1.
PMID:22387014
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A.