Literature DB >> 2157434

Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein.

M Haltia1, F Prelli, J Ghiso, S Kiuru, H Somer, J Palo, B Frangione.   

Abstract

Familial amyloidosis, Finnish type, is clinically characterized by cranial neuropathy and lattice corneal dystrophy. It is an autosomal dominant form of systemic amyloidosis with small deposits of congophilic material occurring in most tissues, particularly in association with blood vessel walls and basement membranes. Amyloid fibrils were extracted from the kidney of patient VUO, and rabbit antiserum raised against the 12 kDa purified amyloid subunit displayed strong immunohistochemical reactivity with the amyloid deposits. The amino terminal sequence of this 12 kDa amyloid protein (ATEVPVSWESFNNGD) showed homology with gelsolin (or actin depolymerizing factor), a 93 kDa plasma protein. The amyloid peptide is a degradation product, starting at position 173, of the gelsolin molecule.

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Year:  1990        PMID: 2157434     DOI: 10.1016/0006-291x(90)90612-q

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  25 in total

1.  Equilibria and kinetics of folding of gelsolin domain 2 and mutants involved in familial amyloidosis-Finnish type.

Authors:  R L Isaacson; A G Weeds; A R Fersht
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-28       Impact factor: 11.205

2.  Gene mutations in inherited amyloidopathies of the nervous system.

Authors:  R E Tanzi
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

3.  Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

Authors:  M Haltia; J Ghiso; F Prelli; G Gallo; S Kiuru; H Somer; J Palo; B Frangione
Journal:  Am J Pathol       Date:  1990-06       Impact factor: 4.307

Review 4.  Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention.

Authors:  James P Solomon; Lesley J Page; William E Balch; Jeffery W Kelly
Journal:  Crit Rev Biochem Mol Biol       Date:  2012-02-24       Impact factor: 8.250

5.  Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up.

Authors:  E Ando; Y Ando; R Okamura; M Uchino; M Ando; A Negi
Journal:  Br J Ophthalmol       Date:  1997-04       Impact factor: 4.638

6.  Nomenclature of amyloid and amyloidosis. WHO-IUIS Nomenclature Sub-Committee.

Authors: 
Journal:  Bull World Health Organ       Date:  1993       Impact factor: 9.408

7.  Comparison of amyloid deposition in two lines of transgenic mouse that model familial amyloidotic polyneuropathy, type I.

Authors:  Y Takaoka; F Tashiro; S Yi; S Maeda; K Shimada; K Takahashi; Y Sakaki; K Yamamura
Journal:  Transgenic Res       Date:  1997-07       Impact factor: 2.788

8.  Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.

Authors:  C P Maury
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

9.  Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

Authors:  T Hiltunen; S Kiuru; V Hongell; T Heliö; J Palo; L Peltonen
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

10.  Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome.

Authors:  Pirjo Juusela; Maarit Tanskanen; Anja Nieminen; Veli-Jukka Uitto; Harri Blåfield; Sari Kiuru-Enari
Journal:  Clin Rheumatol       Date:  2009-08-23       Impact factor: 2.980

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