Home Chronic Kidney Disease Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

Credits to the Source Link Obum
Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy
    • Bu F.
    • Borsa N.
    • Gianluigi A.
    • Smith R.J.

    Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.

    Clin Dev Immunol. 2012; 2012: 370426

    • Warwicker P.
    • Goodship T.H.
    • Donne R.L.
    • et al.

    Genetic studies into inherited and sporadic hemolytic uremic syndrome.

    Kidney Int. 1998; 53: 836-844

    • Fakhouri F.
    • Zuber J.
    • Fremeaux-Bacchi V.
    • Loirat C.

    Haemolytic uraemic syndrome.

    Lancet. 2017; 390: 681-696

  • Glomerular diseases dependent on complement activation, including atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis, and C3 glomerulopathy: core curriculum.

    Am J Kidney Dis. 2015; 66: 359-375

    • Durey M.A.
    • Sinha A.
    • Togarsimalemath S.K.
    • Bagga A.

    Anti-complement-factor H-associated glomerulopathies.

    Nat Rev Nephrol. 2016; 12: 563-578

    • Sansbury F.H.
    • Cordell H.J.
    • Bingham C.
    • et al.

    Factors determining penetrance in familial atypical haemolytic uraemic syndrome.

    J Med Genet. 2014; 51: 756-764

    • Esparza-Gordillo J.
    • Goicoechea de Jorge E.
    • Buil A.
    • et al.

    Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

    Hum Mol Genet. 2005; 14: 703-712

    • Bresin E.
    • Rurali E.
    • Caprioli J.
    • et al.

    European Working Party on Complement Genetics in Renal Diseases. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

    J Am Soc Nephrol. 2013; 24: 475-486

    • Goicoechea de Jorge E.
    • Harris C.L.
    • Esparza-Gordillo J.
    • et al.

    Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

    Proc Natl Acad Sci USA. 2007; 104: 240-245

    • Fremeaux-Bacchi V.
    • Fakhouri F.
    • Garnier A.
    • et al.

    Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

    Clin J Am Soc Nephrol. 2013; 8: 554-562

    • Lemaire M.
    • Fremeaux-Bacchi V.
    • Schaefer F.
    • et al.

    Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

    Nat Genet. 2013; 45: 531-536

    • Sanchez Chinchilla D.
    • Pinto S.
    • Hoppe B.
    • et al.

    Complement mutations in diacylglycerol kinase-epsilon-associated atypical hemolytic uremic syndrome.

    Clin J Am Soc Nephrol. 2014; 9: 1611-1619

    • Valoti E.
    • Alberti M.
    • Tortajada A.
    • et al.

    A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.

    J Am Soc Nephrol. 2015; 26: 209-219

    • Eyler S.J.
    • Meyer N.C.
    • Zhang Y.
    • Xiao X.
    • Nester C.M.
    • Smith R.J.

    A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome.

    Pediatr Nephrol. 2013; 28: 2221-2225

    • Venables J.P.
    • Strain L.
    • Routledge D.
    • et al.

    Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

    Plos Med. 2006; 3: e431

    • Maga T.K.
    • Meyer N.C.
    • Belsha C.
    • Nishimura C.J.
    • Zhang Y.
    • Smith R.J.

    A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome.

    Nephrol Dial Transpl. 2011; 26: 739-741

    • Tortajada A.
    • Yebenes H.
    • Abarrategui-Garrido C.
    • et al.

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

    J Clin Invest. 2013; 123: 2434-2446

    • Gale D.P.
    • de Jorge E.G.
    • Cook H.T.
    • et al.

    Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

    Lancet. 2010; 376: 794-801

    • Chen Q.
    • Wiesener M.
    • Eberhardt H.U.
    • et al.

    Complement factor H-related hybrid protein deregulates complement in dense deposit disease.

    J Clin Invest. 2014; 124: 145-155

    • Athanasiou Y.
    • Voskarides K.
    • Gale D.P.
    • et al.

    Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.

    Clin J Am Soc Nephrol. 2011; 6: 1436-1446

    • Levy M.
    • Halbwachs-Mecarelli L.
    • Gubler M.C.
    • et al.

    Deficiency in two brothers with atypical dense intramembranous deposit disease.

    Kidney Int. 1986; 30: 949-956

    • Ault B.H.
    • Schmidt B.Z.
    • Fowler N.L.
    • et al.

    Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.

    J Biol Chem. 1997; 272: 25168-25175

    • Martinez-Barricarte R.
    • Heurich M.
    • Valdes-Canedo F.
    • et al.

    Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation.

    J Clin Invest. 2010; 120: 3702-3712

    • Chauvet S.
    • Roumenina L.T.
    • Bruneau S.
    • et al.

    A familial C3GN secondary to defective C3 regulation by complement receptor 1 and complement factor H.

    J Am Soc Nephrol. 2016; 27: 1665-1677

    • Servais A.
    • Noel L.H.
    • Roumenina L.T.
    • et al.

    Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies.

    Kidney Int. 2012; 82: 454-464

    • Bu F.
    • Borsa N.G.
    • Jones M.B.
    • et al.

    High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies.

    J Am Soc Nephrol. 2016; 27: 1245-1253

    • Iatropoulos P.
    • Noris M.
    • Mele C.
    • et al.

    Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome.

    Mol Immunol. 2016; 71: 131-142

    • Thomas S.
    • Ranganathan D.
    • Francis L.
    • Madhan K.
    • John G.T.

    Current concepts in C3 glomerulopathy.

    Indian J Nephrol. 2014; 24: 339-348

    • Osborne A.J.
    • Breno M.
    • Borsa N.G.
    • et al.

    Statistical validation of rare complement variants provides insights into the molecular basis of atypical hemolytic uremic syndrome and C3 glomerulopathy.

    J Immunol. 2018; 200: 2464-2478

    • Lek M.
    • Karczewski K.J.
    • Minikel E.V.
    • et al.

    Exome Aggregation C: analysis of protein-coding genetic variation in 60,706 humans.

    Nature. 2016; 536: 285-291

    • Rodriguez E.
    • Rallapalli P.M.
    • Osborne A.J.
    • Perkins S.J.

    New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

    Biosci Rep. 2014; 34: e00146

    • Saunders R.E.
    • Goodship T.H.
    • Zipfel P.F.
    • Perkins S.J.

    An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.

    Hum Mutat. 2006; 27: 21-30

    • Perkins S.J.
    • Goodship T.H.

    Molecular modelling of mutations in the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site.

    J Mol Biol. 2002; 316: 217-224

    • Walsh R.
    • Thomson K.L.
    • Ware J.S.
    • et al.

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

    Genet Med. 2017; 19: 192-203

  • Rare variant association studies: considerations, challenges and opportunities.

    Genome Med. 2015; 7: 16

    • Wu J.
    • Wu Y.Q.
    • Ricklin D.
    • Janssen B.J.
    • Lambris J.D.
    • Gros P.

    Structure of complement fragment C3b-factor H and implications for host protection by complement regulators.

    Nat Immunol. 2009; 10: 728-733

    • Blaum B.S.
    • Hannan J.P.
    • Herbert A.P.
    • Kavanagh D.
    • Uhrin D.
    • Stehle T.

    Structural basis for sialic acid-mediated self-recognition by complement factor H.

    Nat Chem Biol. 2015; 11: 77-82

    • Okemefuna A.I.
    • Nan R.
    • Gor J.
    • Perkins S.J.

    Electrostatic interactions contribute to the folded-back conformation of wild type human factor H.

    J Mol Biol. 2009; 391: 98-118

    • Janssen B.J.
    • Huizinga E.G.
    • Raaijmakers H.C.
    • et al.

    Structures of complement component C3 provide insights into the function and evolution of immunity.

    Nature. 2005; 437: 505-511

    • Roversi P.
    • Johnson S.
    • Caesar J.J.
    • et al.

    Structural basis for complement factor I control and its disease-associated sequence polymorphisms.

    Proc Natl Acad Sci USA. 2011; 108: 12839-12844

    • Persson B.D.
    • Schmitz N.B.
    • Santiago C.
    • et al.

    Structure of the extracellular portion of CD46 provides insights into its interactions with complement proteins and pathogens.

    Plos Pathog. 2010; 6: e1001122

    • Osborne A.J.
    • Nan R.
    • Miller A.
    • Bhatt J.S.
    • Gor J.
    • Perkins S.J.

    Two distinct conformations of factor H regulate discrete complement-binding functions in the fluid phase and at cell surfaces.

    J Biol Chem. 2018; 293: 17166-17187

    • Xue X.
    • Wu J.
    • Ricklin D.
    • et al.

    Regulator-dependent mechanisms of C3b processing by factor I allow differentiation of immune responses.

    Nat Struct Mol Biol. 2017; 24: 643-651

    • Kolodziejczyk R.
    • Mikula K.M.
    • Kotila T.
    • et al.

    Crystal structure of a tripartite complex between C3dg, C-terminal domains of factor H and OspE of Borrelia burgdorferi.

    PLoS One. 2017; 12: e0188127

    • Goodship T.H.
    • Cook H.T.
    • Fakhouri F.
    • et al.

    Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a “kidney disease: Improving Global outcomes” (KDIGO) Controversies conference.

    Kidney Int. 2017; 91: 539-551

  • Source Link

    Related Posts

    Leave a Comment

    This website uses cookies to improve your experience. We will assume you are ok with this, but you can opt-out if you wish. Accept Read More

    %d bloggers like this: