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dc.contributor.author
Romero, Jorge Miguel  
dc.date.available
2021-11-08T20:29:31Z  
dc.date.issued
2020-08-15  
dc.identifier.citation
Romero, Jorge Miguel; Triosephosphate isomerase deficiency: effect of F240L mutation on enzyme structure; Elsevier Science Inc.; Archives of Biochemistry and Biophysics; 689; 108473; 15-8-2020; 1-9  
dc.identifier.issn
0003-9861  
dc.identifier.uri
http://hdl.handle.net/11336/146344  
dc.description.abstract
Eleven missense mutations have been describe in human triosephosphate isomerase (TPI), affecting its catalytic function. Several of these mutations generate triosephosphate isomerase deficiency, the consequences of which can in some cases be lethal. The missense F240L mutation was found in a Hungarian patient showing symptoms of chronic hemolytic anemia and neuromuscular dysfunction. In vitro studies using a recombinant version of this mutant showed that it affects kinetic parameters, thermal stability and dimeric stability. Using X-ray crystal structures, the present paper describes how this mutation affected the flexibility of catalytic residues K13 and part of the (β/α) 8-barrel fold facing the dimeric interface in the TPI.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Elsevier Science Inc.  
dc.rights
info:eu-repo/semantics/restrictedAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
TRIOSEPHOSPHATE ISOMERASE  
dc.subject
DEFICIENCY  
dc.subject
CRYSTALLOGRAPHY  
dc.subject
STABILITY  
dc.subject.classification
Bioquímica y Biología Molecular  
dc.subject.classification
Ciencias Biológicas  
dc.subject.classification
CIENCIAS NATURALES Y EXACTAS  
dc.title
Triosephosphate isomerase deficiency: effect of F240L mutation on enzyme structure  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2021-09-06T15:05:38Z  
dc.journal.volume
689  
dc.journal.number
108473  
dc.journal.pagination
1-9  
dc.journal.pais
Países Bajos  
dc.journal.ciudad
Amsterdam  
dc.description.fil
Fil: Romero, Jorge Miguel. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Centro de Investigaciones en Química Biológica de Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Centro de Investigaciones en Química Biológica de Córdoba; Argentina  
dc.journal.title
Archives of Biochemistry and Biophysics  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.abb.2020.108473  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S0003986120304823