Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency-Reference-Cited by-同舟云学术

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

Published:2019-06-11 Issue:5 Volume:42 Page:839-849
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Segal Joanna¹,Mülleder Michael¹²,Krüger Antje²,Adler Thure³⁴,Scholze‐Wittler Manuela²,Becker Lore³⁵,Calzada‐Wack Julia³⁶,Garrett Lillian³⁷,Hölter Sabine M.³⁷,Rathkolb Birgit³⁸⁹,Rozman Jan³⁹¹⁰,Racz Ildiko³,Fischer Ralf³,Busch Dirk H.⁴,Neff Frauke³⁶,Klingenspor Martin¹⁰¹¹,Klopstock Thomas⁵¹²¹³,Grüning Nana‐Maria²,Michel Steve²,Lukaszewska‐McGreal Beata²,Voigt Ingo²,Hartmann Ludger²,Timmermann Bernd²,Lehrach Hans²,Wolf Eckhard⁸,Wurst Wolfgang⁷¹²¹³¹⁴,Gailus‐Durner Valérie³,Fuchs Helmut³,H. de Angelis Martin³⁹¹⁵,Schrewe Heinrich²,Yuneva Mariia¹⁶,Ralser Markus¹²¹⁷¹⁸^ORCID

Affiliation:

1. The Molecular Biology of Metabolism Laboratory, Francis Crick Institute London UK

2. Max Planck Institute for Molecular Genetics Berlin Germany

3. German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum MünchenGerman Research Center for Environmental Health (GmbH) Neuherberg/Munich Germany

4. Institute for Medical Microbiology, Immunology, and Hygiene Munich Germany

5. Friedrich‐Baur‐Institute, Department of NeurologyLudwig‐Maximilians‐Universität München Munich Germany

6. Institute of Pathology, Helmholtz Zentrum MünchenGerman Research Center for Environmental Health (GmbH) Neuherberg/Munich Germany

7. Institute of Developmental Genetics, Helmholtz Zentrum MünchenGerman Research Center for Environmental Health (GmbH) Neuherberg/Munich Germany

8. Chair for Molecular Animal Breeding and Biotechnology, Gene CenterLudwig‐Maximilians‐Universität München Munich Germany

9. Member of German Center for Diabetes Research (DZD)Neuherberg/Munich Germany

10. Molecular Nutritional MedicineElse Kröner‐Fresenius Center, TUM Freising‐Weihenstephan Germany

11. ZIEL – Institute for Food and HealthTechnical University Munich Freising‐Weihenstephan Germany

12. Munich Cluster for Systems Neurology (SyNergy)Adolf‐Butenandt‐Institut, Ludwig‐Maximilians‐Universität München Munich Germany

13. Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE) Site Munich Munich Germany

14. Chair of Developmental GeneticsTUM Freising‐Weihenstephan Germany

15. Chair of Experimental GeneticsCenter of Life and Food Sciences Weihenstephan, TUM Freising‐Weihenstephan Germany

16. Oncogenes and Tumour Metabolism LaboratoryThe Francis Crick Institute London UK

17. Cambridge Systems Biology Centre and Department of BiochemistryUniversity of Cambridge Cambridge UK

18. Department of BiochemistryCharitè Universitätsmedizin Berlin Berlin Germany

Funder

Francis Crick Institute

Helmholtz Association

Max-Planck-Gesellschaft

Medical Research Council

Wellcome Trust

Cancer Research UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12105

Reference41 articles.

1. Hereditary Hemolytic Anemia with Triosephosphate Isomerase Deficiency

2. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms

3. Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

4. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects

5. Hematologically Important Mutations: Triosephosphate Isomerase

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