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Amyloidosis, Familial

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Disease relevance of Amyloidosis, Familial


Psychiatry related information on Amyloidosis, Familial

  • Amyloid diseases like Alzheimer's disease and familial amyloidosis of Finnish type (FAF) stem from endoproteolytic cleavage of a precursor protein to generate amyloidogenic peptides that accumulate as amyloid deposits in a tissue-specific manner [6].

High impact information on Amyloidosis, Familial


Chemical compound and disease context of Amyloidosis, Familial


Biological context of Amyloidosis, Familial


Anatomical context of Amyloidosis, Familial


Gene context of Amyloidosis, Familial


Analytical, diagnostic and therapeutic context of Amyloidosis, Familial


  1. In vitro expression analysis shows that the secretory form of gelsolin is the sole source of amyloid in gelsolin-related amyloidosis. Kangas, H., Paunio, T., Kalkkinen, N., Jalanko, A., Peltonen, L. Hum. Mol. Genet. (1996) [Pubmed]
  2. Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. Benson, M.D., Wallace, M.R., Tejada, E., Baumann, H., Page, B. Arthritis Rheum. (1987) [Pubmed]
  3. Familial amyloid polyneuropathy: new developments in genetics and treatment. Coelho, T. Curr. Opin. Neurol. (1996) [Pubmed]
  4. Amyloid fibril protein in familial amyloidosis with cranial neuropathy and corneal lattice dystrophy (FAP type IV) is related to transthyretin. Maury, C.P., Teppo, A.M., Karinemi, A.L., Koeppen, A.H. Am. J. Clin. Pathol. (1988) [Pubmed]
  5. Advanced glycation end products (AGE) and the receptor for AGE are present in gastrointestinal tract of familial amyloidotic polyneuropathy patients but do not induce NF-kappaB activation. Matsunaga, N., Anan, I., Forsgren, S., Nagai, R., Rosenberg, P., Horiuchi, S., Ando, Y., Suhr, O.B. Acta Neuropathol. (2002) [Pubmed]
  6. Metalloendoprotease cleavage triggers gelsolin amyloidogenesis. Page, L.J., Suk, J.Y., Huff, M.E., Lim, H.J., Venable, J., Yates, J., Kelly, J.W., Balch, W.E. EMBO J. (2005) [Pubmed]
  7. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Benson, M.D., Liepnieks, J., Uemichi, T., Wheeler, G., Correa, R. Nat. Genet. (1993) [Pubmed]
  8. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. de la Chapelle, A., Tolvanen, R., Boysen, G., Santavy, J., Bleeker-Wagemakers, L., Maury, C.P., Kere, J. Nat. Genet. (1992) [Pubmed]
  9. Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. Booth, D.R., Tan, S.Y., Booth, S.E., Tennent, G.A., Hutchinson, W.L., Hsuan, J.J., Totty, N.F., Truong, O., Soutar, A.K., Hawkins, P.N., Bruguera, M., Caballería, J., Solé, M., Campistol, J.M., Pepys, M.B. J. Clin. Invest. (1996) [Pubmed]
  10. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. Wallace, M.R., Dwulet, F.E., Williams, E.C., Conneally, P.M., Benson, M.D. J. Clin. Invest. (1988) [Pubmed]
  11. Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization. Chen, C.D., Huff, M.E., Matteson, J., Page, L., Phillips, R., Kelly, J.W., Balch, W.E. EMBO J. (2001) [Pubmed]
  12. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. Hamidi Asl, L., Liepnieks, J.J., Hamidi Asl, K., Uemichi, T., Moulin, G., Desjoyaux, E., Loire, R., Delpech, M., Grateau, G., Benson, M.D. Am. J. Pathol. (1999) [Pubmed]
  13. The amyloidogenicity of gelsolin is controlled by proteolysis and pH. Ratnaswamy, G., Koepf, E., Bekele, H., Yin, H., Kelly, J.W. Chem. Biol. (1999) [Pubmed]
  14. Prealbumin variants in the amyloid fibrils of Swedish familial amyloidotic polyneuropathy. Westermark, P., Sletten, K., Olofsson, B.O. Clin. Exp. Immunol. (1987) [Pubmed]
  15. Cardiac technetium-99m pyrophosphate scintigraphy in familial amyloidosis. Falk, R.H., Lee, V.W., Rubinow, A., Skinner, M., Cohen, A.S. Am. J. Cardiol. (1984) [Pubmed]
  16. Diagnosis of Maryland/German familial amyloidotic polyneuropathy using allele-specific, enzymatically amplified, genomic DNA. Mendell, J.R., Jiang, X.S., Warmolts, J.R., Nichols, W.C., Benson, M.D. Ann. Neurol. (1990) [Pubmed]
  17. Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. Maury, C.P., Alli, K., Baumann, M. FEBS Lett. (1990) [Pubmed]
  18. Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis. Chou, C.T., Lee, C.C., Chang, D.M., Buxbaum, J.N., Jacobson, D.R. J. Intern. Med. (1997) [Pubmed]
  19. Tissue distribution of amyloid deposits in Abyssinian cats with familial amyloidosis. DiBartola, S.P., Tarr, M.J., Benson, M.D. J. Comp. Pathol. (1986) [Pubmed]
  20. Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). Kiuru, S., Matikainen, E., Kupari, M., Haltia, M., Palo, J. J. Neurol. Sci. (1994) [Pubmed]
  21. Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. Salvi, F., Salvi, G., Volpe, R., Mencucci, R., Plasmati, R., Michelucci, R., Gobbi, P., Santangelo, M., Ferlini, A., Forabosco, A. Ophthalmic paediatrics and genetics. (1993) [Pubmed]
  22. Immunocytochemical identification of amyloid in formalin-fixed paraffin sections. Shirahama, T., Skinner, M., Cohen, A.S. Histochemistry (1981) [Pubmed]
  23. Gelsolin domain 2 Ca2+ affinity determines susceptibility to furin proteolysis and familial amyloidosis of finnish type. Huff, M.E., Page, L.J., Balch, W.E., Kelly, J.W. J. Mol. Biol. (2003) [Pubmed]
  24. Nephelometric measurement of human serum prealbumin and correlation with acute-phase proteins CRP and SAA: results in familial amyloid polyneuropathy. Connors, L.H., Gertz, M.A., Skinner, M., Cohen, A.S. J. Lab. Clin. Med. (1984) [Pubmed]
  25. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Obici, L., Palladini, G., Giorgetti, S., Bellotti, V., Gregorini, G., Arbustini, E., Verga, L., Marciano, S., Donadei, S., Perfetti, V., Calabresi, L., Bergonzi, C., Scolari, F., Merlini, G. Gastroenterology (2004) [Pubmed]
  26. Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis. Benson, M.D., Dwulet, F.E. Arthritis Rheum. (1983) [Pubmed]
  27. Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. Valleix, S., Drunat, S., Philit, J.B., Adoue, D., Piette, J.C., Droz, D., MacGregor, B., Canet, D., Delpech, M., Grateau, G. Kidney Int. (2002) [Pubmed]
  28. Doppler echocardiographic assessments of left ventricular diastolic filling in patients with amyloid heart disease. Hongo, M., Kono, J., Yamada, H., Misawa, T., Tanaka, M., Nakatsuka, T., Kinoshita, O., Okubo, S., Sekiguchi, M. Journal of cardiology. (1991) [Pubmed]
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