Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.
Amyloid fibrils were isolated from spleen and liver of a patient who died with Familial Amyloidotic Polyneuropathy Type III (Iowa). The major protein constituent of the fibrils was found to be the amino terminal portion (residues 1-83) of apolipoprotein AI with an arginine for glycine substitution at position 26. This is the first report of an apolipoprotein as a major amyloid constituent in a form of autosomal dominant hereditary amyloidosis in humans.
D000595:Amino Acid Sequence; D000682:Amyloid / Q000032:analysis*; D000686:Amyloidosis / Q000235:genetics* / Q000378:metabolism; D016632:Apolipoprotein A-I; D001054:Apolipoproteins A / Q000032:analysis*; D002851:Chromatography, High Pressure Liquid; D014644:Genetic Variation; D006801:Humans; D008099:Liver / Q000032:analysis; D008969:Molecular Sequence Data; D009422:Nervous System Diseases / Q000235:genetics* / Q000378:metabolism; D010446:Peptide Fragments; D013154:Spleen / Q000032:analysis; D014357:Trypsin
D000682:Amyloid; D016632:Apolipoprotein A-I; D001054:Apolipoproteins A; D010446:Peptide Fragments; D014357:Trypsin