A new human hereditary amyloidosis: The result of a stop-codon mutation in the apolipoprotein AII gene

Genomics

Volumn 72, Issue 3, 2001, Pages 272-277

  Benson, Merrill D ^a   Liepnieks, Juris J ^a   Yazaki, Masahide ^a   Yamashita, Taro ^a   Hamidi Asl, Kamran ^a   Guenther, Brian ^a   Kluve Beckerman, Barbara ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; CYSTATIN C; FIBRINOGEN; GELSOLIN; LYSOZYME; PLASMA PROTEIN; PREALBUMIN;

ALZHEIMER DISEASE; AMYLOIDOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; GENE MUTATION; GENE SEQUENCE; HISTOLOGY; HUMAN; HUMAN TISSUE; KIDNEY AMYLOIDOSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; STOP CODON;

EID: 0035868431     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2000.6499     Document Type: Article

References (29)

1. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
2. Amyloidosis
3. Hereditary renal amyloidosis associated with a mutant fibrinogen α-chain
4. Amino acid sequence of human apoLp-Gln-II (apoA-II), an apolipoprotein isolated from the high-density lipoprotein complex
5. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy
6. A splice-junction mutation responsible for familial apolipoprotein A-II deficiency
7. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of γ-trace basic protein (cystatin C)
8. Alzheimer disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein
9. Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin
10. Renal amyloidosis with a frame shift mutation in fibrinogen Aα-chain gene producing a novel amyloid protein
11. Polymorphism of apolipoprotein A-II (apoA-II) among inbred strains of mice: Relationship between the molecular type of apoA-II and mouse senile amyloidosis
12. SAM is an apoA-II apolipoprotein of mouse high density lipoproteins
13. The single proline-glutamine substitution at position 5 enhances the potency of amyloid fibril formation of murine apoA-II
14. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis
15. Human apolipoprotein A-II complete nucleic acid sequence of preproapoA-II
16. Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene
17. Human apolipoprotein A-II: Nucleotide sequence of a cloned cDNA, and localization of its structural gene on human chromosome 1
18. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid
19. Familiäre Amyloid-erkrankung
20. Human lysozyme gene mutations cause hereditary systemic amyloidosis
21. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1-100 kDa
22. Expression of human apolipoprotein A-II and its effect on high density lipoproteins in transgenic mice
23. The amphipathic helix in the exchangeable apolipoproteins: A review of secondary structure and function
24. Hereditary renal amyloidosis with a novel variant fibrinogen
25. A frame shift mutation in the fibrinogen Aα-chain gene in a kindred with renal amyloidosis
26. Inherited predisposition to generalized amyloidosis
27. A stop-codon mutation in the BRI gene associated with familial British dementia
28. A decamer duplication in the 3′ region of the BRI gene originates ah amyloid peptide that is associated with dementia in a Danish kindred
29. Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells