Literature DB >> 1839349

Genetic aspects of amyloidosis.

D R Jacobson1, J N Buxbaum.   

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Year:  1991        PMID: 1839349     DOI: 10.1007/978-1-4684-5958-6_2

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN: 0065-275X


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  16 in total

Review 1.  Amyloid diseases: abnormal protein aggregation in neurodegeneration.

Authors:  E H Koo; P T Lansbury; J W Kelly
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-31       Impact factor: 11.205

2.  The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.

Authors:  X Jiang; J N Buxbaum; J W Kelly
Journal:  Proc Natl Acad Sci U S A       Date:  2001-12-18       Impact factor: 11.205

3.  Inhibiting transthyretin conformational changes that lead to amyloid fibril formation.

Authors:  S A Peterson; T Klabunde; H A Lashuel; H Purkey; J C Sacchettini; J W Kelly
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-27       Impact factor: 11.205

4.  A specific test for transthyretin 122 (Val----Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks.

Authors:  D R Jacobson
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

5.  Modulating the Effects of the Bacterial Chaperonin GroEL on Fibrillogenic Polypeptides through Modification of Domain Hinge Architecture.

Authors:  Naoya Fukui; Kiho Araki; Kunihiro Hongo; Tomohiro Mizobata; Yasushi Kawata
Journal:  J Biol Chem       Date:  2016-10-14       Impact factor: 5.157

6.  Support for the multigenic hypothesis of amyloidosis: the binding stoichiometry of retinol-binding protein, vitamin A, and thyroid hormone influences transthyretin amyloidogenicity in vitro.

Authors:  J T White; J W Kelly
Journal:  Proc Natl Acad Sci U S A       Date:  2001-10-30       Impact factor: 11.205

7.  Destabilization of Ca2+-free gelsolin may not be responsible for proteolysis in Familial Amyloidosis of Finnish Type.

Authors:  G Ratnaswamy; M E Huff; A I Su; S Rion; J W Kelly
Journal:  Proc Natl Acad Sci U S A       Date:  2001-02-20       Impact factor: 11.205

8.  Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports.

Authors:  D R Jacobson; M Ittmann; J N Buxbaum; R Wieczorek; P D Gorevic
Journal:  Tex Heart Inst J       Date:  1997

9.  Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

Authors:  D R Jacobson; D E McFarlin; I Kane; J N Buxbaum
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

10.  Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred.

Authors:  D R Jacobson; C J Rosenthal; J N Buxbaum
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

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