Literature DB >> 1786038

Transthyretin Leu 68 in a form of cardiac amyloidosis.

M R Almeida1, A Hesse, A Steinmetz, B Maisch, K Altland, R P Linke, M A Gawinowicz, M J Saraiva.   

Abstract

A form of transthyretin (TTR)-related cardiac amyloidosis was previously described in a German patient. Electrophoretic analysis of plasma TTR showed the presence of an electrically neutral variant. We have now characterized the variant transthyretin by comparative peptide mapping, aminoacid and DNA sequencing procedures. A new mutation in TTR with a substitution of leucine for isoleucine at position 68 of the monomer is described.

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Year:  1991        PMID： 1786038     DOI： 10.1007/bf02190707

Source DB:  PubMed          Journal:  Basic Res Cardiol        ISSN： 0300-8428            Impact factor:   17.165


  9 in total

1.  Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.

Authors:  M J Saraiva; W Sherman; C Marboe; A Figueira; P Costa; A F de Freitas; M A Gawinowicz
Journal:  Scand J Immunol       Date:  1990-10       Impact factor: 3.487

2.  A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin.

Authors:  M Nordlie; K Sletten; G Husby; P J Ranløv
Journal:  Scand J Immunol       Date:  1988-01       Impact factor: 3.487

3.  Fibril in senile systemic amyloidosis is derived from normal transthyretin.

Authors:  P Westermark; K Sletten; B Johansson; G G Cornwell
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

4.  Affinity generation of single-stranded DNA for dideoxy sequencing following the polymerase chain reaction.

Authors:  L G Mitchell; C R Merril
Journal:  Anal Biochem       Date:  1989-05-01       Impact factor: 3.365

5.  A new mutation causing familial amyloidotic polyneuropathy.

Authors:  J C Skare; M J Saraiva; I L Alves; I B Skare; A Milunsky; A S Cohen; M Skinner
Journal:  Biochem Biophys Res Commun       Date:  1989-11-15       Impact factor: 3.575

6.  Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type. Family studies on the transthyretin (prealbumin)-methionine-30 variant.

Authors:  M J Saraiva; P P Costa; D S Goodman
Journal:  J Clin Invest       Date:  1985-12       Impact factor: 14.808

Review 7.  Recent advances in the molecular pathology of familial amyloid polyneuropathy.

Authors:  M J Saraiva
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296

8.  Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy.

Authors:  P D Gorevic; F C Prelli; J Wright; M Pras; B Frangione
Journal:  J Clin Invest       Date:  1989-03       Impact factor: 14.808

9.  Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.

Authors:  M R Wallace; F E Dwulet; P M Conneally; M D Benson
Journal:  J Clin Invest       Date:  1986-07       Impact factor: 14.808
  9 in total
  11 in total

1.  A new transthyretin mutation associated with amyloid cardiomyopathy.

Authors:  M J Saraiva; M do R Almeida; W Sherman; M Gawinowicz; P Costa; P P Costa; D S Goodman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 2.  Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.

Authors:  A Hesse; K Altland; R P Linke; M R Almeida; M J Saraiva; A Steinmetz; B Maisch
Journal:  Br Heart J       Date:  1993-08

Review 3.  Impact of Genetic Testing in Transthyretin (ATTR) Cardiac Amyloidosis.

Authors:  Deepa M Gopal; Frederick L Ruberg; Omar K Siddiqi
Journal:  Curr Heart Fail Rep       Date:  2019-10

4.  Structure-based analysis of A19D, a variant of transthyretin involved in familial amyloid cardiomyopathy.

Authors:  Priscila Ferreira; Ricardo Sant'Anna; Oliveira Sant'Anna; Nathalia Varejão; Cinthia Lima; Shenia Novis; Renata V Barbosa; Concy M Caldeira; Franklin D Rumjanek; Salvador Ventura; Marcia W Cruz; Debora Foguel
Journal:  PLoS One       Date:  2013-12-17       Impact factor: 3.240

5.  Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study.

Authors:  Thibaud Damy; Pablo Garcia-Pavia; Mazen Hanna; Daniel P Judge; Giampaolo Merlini; Balarama Gundapaneni; Terrell A Patterson; Steven Riley; Jeffrey H Schwartz; Marla B Sultan; Ronald Witteles
Journal:  Eur J Heart Fail       Date:  2020-11-12       Impact factor: 15.534

6.  Temporal Trends of Wild-Type Transthyretin Amyloid Cardiomyopathy in the Transthyretin Amyloidosis Outcomes Survey.

Authors:  Jose Nativi-Nicolau; Alfonso Siu; Angela Dispenzieri; Mathew S Maurer; Claudio Rapezzi; Arnt V Kristen; Pablo Garcia-Pavia; Samantha LoRusso; Márcia Waddington-Cruz; Olivier Lairez; Ronald Witteles; Doug Chapman; Leslie Amass; Martha Grogan
Journal:  JACC CardioOncol       Date:  2021-10-19

7.  Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

Authors:  Volha Skrahina; Ulrike Grittner; Christian Beetz; Thomas Skripuletz; Martin Juenemann; Heidrun H Krämer; Katrin Hahn; Andreas Rieth; Volker Schaechinger; Monica Patten; Christian Tanislav; Stephan Achenbach; Birgit Assmus; Fabian Knebel; Stefan Gingele; Aliaksandr Skrahin; Jörg Hartkamp; Toni M Förster; Sabine Roesner; Catarina Pereira; Arndt Rolfs
Journal:  Ann Med       Date:  2021-12       Impact factor: 4.709

8.  Structure of Met30 variant of transthyretin and its amyloidogenic implications.

Authors:  C J Terry; A M Damas; P Oliveira; M J Saraiva; I L Alves; P P Costa; P M Matias; Y Sakaki; C C Blake
Journal:  EMBO J       Date:  1993-02       Impact factor: 11.598

9.  Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Authors:  Thibaud Damy; Arnt V Kristen; Ole B Suhr; Mathew S Maurer; Violaine Planté-Bordeneuve; Ching-Ray Yu; Moh-Lim Ong; Teresa Coelho; Claudio Rapezzi
Journal:  Eur Heart J       Date:  2019-04-01       Impact factor: 29.983

Review 10.  A Narrative Review of the Role of Transthyretin in Health and Disease.

Authors:  Marcia Almeida Liz; Teresa Coelho; Vittorio Bellotti; Maria Isabel Fernandez-Arias; Pablo Mallaina; Laura Obici
Journal:  Neurol Ther       Date:  2020-10-01
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