Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.
Anemia, Hemolytic, Congenital Nonspherocytic
/ enzymology
Animals
Behavior, Animal
Carbohydrate Metabolism, Inborn Errors
/ enzymology
Catalytic Domain
/ genetics
Disease Models, Animal
Enzyme Stability
Female
Humans
Male
Mice
Mice, Inbred C57BL
Mutation
Protein Multimerization
Triose-Phosphate Isomerase
/ deficiency
active site mutation
glycolytic enzymopathy
hemolytic anemia
protein stability disorder
site-directed mutagenesis
triosephosphate isomerase deficiency
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
26
10
2018
revised:
11
04
2019
accepted:
24
04
2019
pubmed:
22
5
2019
medline:
17
9
2020
entrez:
22
5
2019
Statut:
ppublish
Résumé
Triosephosphate isomerase (TPI) deficiency is a fatal genetic disorder characterized by hemolytic anemia and neurological dysfunction. Although the enzyme defect in TPI was discovered in the 1960s, the exact etiology of the disease is still debated. Some aspects indicate the disease could be caused by insufficient enzyme activity, whereas other observations indicate it could be a protein misfolding disease with tissue-specific differences in TPI activity. We generated a mouse model in which exchange of a conserved catalytic amino acid residue (isoleucine to valine, Ile170Val) reduces TPI specific activity without affecting the stability of the protein dimer. TPI
Identifiants
pubmed: 31111503
doi: 10.1002/jimd.12105
pmc: PMC7887927
doi:
Substances chimiques
Triose-Phosphate Isomerase
EC 5.3.1.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
839-849Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Cancer Research UK
ID : FC001134
Pays : United Kingdom
Organisme : Medical Research Council
ID : FC001134
Pays : United Kingdom
Organisme : Wellcome Trust
ID : FC001134
Pays : United Kingdom
Informations de copyright
© 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
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