Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome

A Richards, MK Liszewski, D Kavanagh, CJ Fang… - Molecular …, 2007 - Elsevier
The hemolytic uremic syndrome is characterized by the triad of microangiopathic hemolytic
anemia, thrombocytopenia and acute renal failure. There are two general types. One occurs …

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome

EA Moulton, D Kavanagh, J Blouin… - Journal of the …, 2006 - journals.lww.com
Hemolytic uremic syndrome (HUS) is characterized by the triad of thrombocytopenia,
microangiopathic hemolytic anemia, and acute renal failure. The non–Shiga toxin …

Mutations in CD46, a complement regulatory protein, predispose to atypical HUS

THJ Goodship, MK Liszewski, EJ Kemp… - Trends in molecular …, 2004 - cell.com
Membrane cofactor protein (MCP, CD46) is a widely expressed transmembrane
complement regulator. As does the soluble regulator factor H, it inhibits complement …

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome

CJ Fang, V Fremeaux-Bacchi… - Blood, The Journal …, 2008 - ashpublications.org
The hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia,
thrombocytopenia, and renal impairment. Genetic studies demonstrate that heterozygous …

Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndrome

MK Liszewski, MK Leung, B Schraml… - Molecular …, 2007 - Elsevier
Mutations in complement regulatory proteins predispose to the development of aHUS.
Approximately 50% of patients bear a mutation in one of three complement control proteins …

The role of defective complement control in hemolytic uremic syndrome

C Licht, C Skerka, J Misselwitz… - Seminars in thrombosis …, 2006 - thieme-connect.com
Atypical hemolytic uremic syndrome (HUS) is a severe disease that is characterized by
microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Recent …

Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients

FC Mohlin, SC Nilsson, TK Levart, E Golubovic… - Molecular …, 2015 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation,
characterized by hemolytic anemia, thrombocytopenia and acute renal failure. Mutations in …

Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome

EC Schramm, LT Roumenina, T Rybkine… - Blood, The Journal …, 2015 - ashpublications.org
The pathogenesis of atypical hemolytic uremic syndrome (aHUS) is strongly linked to
dysregulation of the alternative pathway of the complement system. Mutations in …

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

A Richards, EJ Kemp, MK Liszewski… - Proceedings of the …, 2003 - National Acad Sciences
Membrane cofactor protein (MCP; CD46) is a widely expressed transmembrane
complement regulator. Like factor H it inhibits complement activation by regulating C3b …

[HTML][HTML] The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome

R Martínez-Barricarte, M Heurich, A López-Perrote… - Molecular …, 2015 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) associates with complement dysregulation
caused by mutations and polymorphisms in complement activators and regulators. However …