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Nat Genet. 1993 Mar;3(3):185-6.
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.
Department of Medicine, Indiana University School of Medicine, Indianapolis.
Three members of a family who died with renal amyloidosis were found to share a single nucleotide substitution in the fibrinogen alpha-chain gene. The predicted arginine to leucine mutation (Arg554Leu) was proven by amino acid sequence analysis of amyloid fibril protein isolated from postmortem kidney of an affected individual. Direct genomic DNA sequencing and restriction fragment length polymorphism analysis demonstrated that all three affected individuals had the guanine to thymine 4993 transversion. This is the first demonstration of hereditary amyloidosis associated with a variant fibrinogen alpha-chain. Variants of circulating fibrinogen may be the cause of a number of systemic amyloidoses with primarily renal involvement.
PMID: 8097946 [PubMed - indexed for MEDLINE]
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Cited by 13 PubMed Central articles
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Fibrinogen has chaperone-like activity.
Tang H, Fu Y, Cui Y, He Y, Zeng X, Ploplis VA, Castellino FJ, Luo Y.
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[Biochem Biophys Res Commun. 2009]
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NMR solution structure, stability, and interaction of the recombinant bovine fibrinogen alphaC-domain fragment.
Burton RA, Tsurupa G, Hantgan RR, Tjandra N, Medved L.
Biochemistry. 2007 Jul 24; 46(29):8550-60. Epub 2007 Jun 23.
[Biochemistry. 2007]
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DFNA5: hearing impairment exon instead of hearing impairment gene?
Van Laer L, Vrijens K, Thys S, Van Tendeloo VF, Smith RJ, Van Bockstaele DR, Timmermans JP, Van Camp G.
J Med Genet. 2004 Jun; 41(6):401-6.
[J Med Genet. 2004]
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