Literature DB >> 8807088

Hematologically important mutations: triosephosphate isomerase.

A Schneider1, M Cohen-Solal.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8807088     DOI： 10.1006/bcmd.1996.0011

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


× No keyword cloud information.
  7 in total

1.  Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules.

Authors:  F Orosz; G Wágner; K Liliom; J Kovács; K Baróti; M Horányi; T Farkas; S Hollán; J Ovádi
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

2.  Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency.

Authors:  S Hollán; M Magócsi; E Fodor; M Horányi; V Harsányi; T Farkas
Journal:  Proc Natl Acad Sci U S A       Date:  1997-09-16       Impact factor: 11.205

3.  The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.

Authors:  Mirjam M C Wamelink; Nana-Maria Grüning; Erwin E W Jansen; Katharina Bluemlein; Hans Lehrach; Cornelis Jakobs; Markus Ralser
Journal:  J Mol Med (Berl)       Date:  2010-05-25       Impact factor: 4.599

4.  Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes.

Authors:  Markus Ralser; Gino Heeren; Michael Breitenbach; Hans Lehrach; Sylvia Krobitsch
Journal:  PLoS One       Date:  2006-12-20       Impact factor: 3.240

5.  Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.

Authors:  Joanna Segal; Michael Mülleder; Antje Krüger; Thure Adler; Manuela Scholze-Wittler; Lore Becker; Julia Calzada-Wack; Lillian Garrett; Sabine M Hölter; Birgit Rathkolb; Jan Rozman; Ildiko Racz; Ralf Fischer; Dirk H Busch; Frauke Neff; Martin Klingenspor; Thomas Klopstock; Nana-Maria Grüning; Steve Michel; Beata Lukaszewska-McGreal; Ingo Voigt; Ludger Hartmann; Bernd Timmermann; Hans Lehrach; Eckhard Wolf; Wolfgang Wurst; Valérie Gailus-Durner; Helmut Fuchs; Martin H de Angelis; Heinrich Schrewe; Mariia Yuneva; Markus Ralser
Journal:  J Inherit Metab Dis       Date:  2019-06-11       Impact factor: 4.750

Review 6.  The return of metabolism: biochemistry and physiology of the pentose phosphate pathway.

Authors:  Anna Stincone; Alessandro Prigione; Thorsten Cramer; Mirjam M C Wamelink; Kate Campbell; Eric Cheung; Viridiana Olin-Sandoval; Nana-Maria Grüning; Antje Krüger; Mohammad Tauqeer Alam; Markus A Keller; Michael Breitenbach; Kevin M Brindle; Joshua D Rabinowitz; Markus Ralser
Journal:  Biol Rev Camb Philos Soc       Date:  2014-09-22

7.  Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency.

Authors:  Ashlee J Conway; Fiona C Brown; Elinor J Hortle; Gaetan Burgio; Simon J Foote; Craig J Morton; Stephen M Jane; David J Curtis
Journal:  Dis Model Mech       Date:  2018-05-21       Impact factor: 5.758
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.