C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation

C3 glomerulopathies (C3G) are a group of severe renal diseases with distinct patterns of glomerular inflammation and C3 deposition caused by complement dysregulation. Here we report the identification of a familial C3G-associated genomic mutation in the gene complement factor H–related 1 (CFHR1), wh...

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Veröffentlicht in:	The Journal of clinical investigation 2013-06, Vol.123 (6), p.2434-2446
Hauptverfasser:	Tortajada, Agustín, Yébenes, Hugo, Abarrategui-Garrido, Cynthia, Anter, Jaouad, García-Fernández, Jesús M, Martínez-Barricarte, Rubén, Alba-Domínguez, María, Malik, Talat H, Bedoya, Rafael, Cabrera Pérez, Rocío, López Trascasa, Margarita, Pickering, Matthew C, Harris, Claire L, Sánchez-Corral, Pilar, Llorca, Oscar, Rodríguez de Córdoba, Santiago
Format:	Artikel
Sprache:	eng
Schlagworte:	Avidity Biomedical research Carbohydrates Causes of Child Competition Complement C3 - chemistry Complement C3 - metabolism Complement C3b Inactivator Proteins - chemistry Complement C3b Inactivator Proteins - genetics Complement C3b Inactivator Proteins - metabolism Complement factor H Complement System Proteins - isolation & purification Complement System Proteins - metabolism Crystal structure Female Gene Duplication Gene mutations Genetic aspects Glomerulonephritis Hemolysis Humans Immobilized Proteins - chemistry Immobilized Proteins - metabolism Kidney - pathology Kidney Diseases - genetics Male Middle Aged Mutagenesis, Insertional Mutation Pedigree Physiological aspects Plasma Protein Binding Protein Multimerization Protein Structure, Quaternary Proteins Sequence Analysis, DNA
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