Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency.
Schmidt BZ, Fowler NL, Hidvegi T, Perlmutter DH, Colten HR.
Schmidt BZ, et al.
J Biol Chem. 1999 Apr 23;274(17):11782-8. doi: 10.1074/jbc.274.17.11782.
J Biol Chem. 1999.
PMID: 10206995
Free article.
Previous studies of inherited factor H deficiency revealed single amino acid substitutions at conserved cysteine residues, on one allele arginine for cysteine 518 (C518R) and on the other tyrosine for cysteine 941 (C941Y) (Ault, B. H., Schmidt, B. Z., Fowler, …
Previous studies of inherited factor H deficiency revealed single amino acid substitutions at conserved cysteine residues, on one allele arg …