{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T19:18:38Z","timestamp":1777317518707,"version":"3.51.4"},"reference-count":36,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2016,5,21]],"date-time":"2016-05-21T00:00:00Z","timestamp":1463788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Glucose-6-phosphate dehydrogenase (G6PD) deficiency in humans causes severe disease, varying from mostly asymptomatic individuals to patients showing neonatal jaundice, acute hemolysis episodes or chronic nonspherocytic hemolytic anemia. In order to understand the effect of the mutations in G6PD gene function and its relation with G6PD deficiency severity, we report the construction, cloning and expression as well as the detailed kinetic and stability characterization of three purified clinical variants of G6PD that present in the Mexican population: G6PD Zacatecas (Class I), Vanua-Lava (Class II) and Viangchan (Class II). For all the G6PD mutants, we obtained low purification yield and altered kinetic parameters compared with Wild Type (WT). Our results show that the mutations, regardless of the distance from the active site where they are located, affect the catalytic properties and structural parameters and that these changes could be associated with the clinical presentation of the deficiency. Specifically, the structural characterization of the G6PD Zacatecas mutant suggests that the R257L mutation have a strong effect on the global stability of G6PD favoring an unstable active site. Using computational analysis, we offer a molecular explanation of the effects of these mutations on the active site.<\/jats:p>","DOI":"10.3390\/ijms17050787","type":"journal-article","created":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T09:05:05Z","timestamp":1464080705000},"page":"787","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2095-9182","authenticated-orcid":false,"given":"Sa\u00fal","family":"G\u00f3mez-Manzo","sequence":"first","affiliation":[{"name":"Laboratorio de Bioqu\u00edmica Gen\u00e9tica, Instituto Nacional de Pediatr\u00eda, M\u00e9xico D.F. 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"Marcial-Quino","sequence":"additional","affiliation":[{"name":"CONACYT\u2014Instituto Nacional de Pediatr\u00eda, M\u00e9xico D.F. 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"America","family":"Vanoye-Carlo","sequence":"additional","affiliation":[{"name":"Laboratorio de Neurociencias, Instituto Nacional de Pediatr\u00eda, M\u00e9xico D.F. 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7901-475X","authenticated-orcid":false,"given":"Hugo","family":"Serrano-Posada","sequence":"additional","affiliation":[{"name":"CONACYT\u2014Laboratorio de Bioingenier\u00eda, Universidad de Colima, Colima 28400, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail","family":"Gonz\u00e1lez-Valdez","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular y Biotecnolog\u00eda, Instituto de Investigaciones Biom\u00e9dicas, Universidad Nacional Aut\u00f3noma de M\u00e9xico, M\u00e9xico D.F. 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor","family":"Mart\u00ednez-Rosas","sequence":"additional","affiliation":[{"name":"Laboratorio de Bioqu\u00edmica Gen\u00e9tica, Instituto Nacional de Pediatr\u00eda, M\u00e9xico D.F. 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3939-6930","authenticated-orcid":false,"given":"Beatriz","family":"Hern\u00e1ndez-Ochoa","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunoqu\u00edmica, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, M\u00e9xico D.F. 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edgar","family":"Sierra-Palacios","sequence":"additional","affiliation":[{"name":"Colegio de Ciencias y Humanidades, Plantel Casa Libertad, UACM, M\u00e9xico D.F. 09620, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4117-6689","authenticated-orcid":false,"given":"Rosa","family":"Castillo-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"CONACYT\u2014Instituto Nacional de Pediatr\u00eda, M\u00e9xico D.F. 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9921-5930","authenticated-orcid":false,"given":"Miguel","family":"Cuevas-Cruz","sequence":"additional","affiliation":[{"name":"Departamento de Qu\u00edmica de Biomacromol\u00e9culas, Instituto de Qu\u00edmica, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Circuito Exterior s\/n, Ciudad Universitaria, M\u00e9xico D.F. 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Rodr\u00edguez-Bustamante","sequence":"additional","affiliation":[{"name":"Departamento de Qu\u00edmica de Biomacromol\u00e9culas, Instituto de Qu\u00edmica, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Circuito Exterior s\/n, Ciudad Universitaria, M\u00e9xico D.F. 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4611-4770","authenticated-orcid":false,"given":"Roberto","family":"Arreguin-Espinosa","sequence":"additional","affiliation":[{"name":"Departamento de Qu\u00edmica de Biomacromol\u00e9culas, Instituto de Qu\u00edmica, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Circuito Exterior s\/n, Ciudad Universitaria, M\u00e9xico D.F. 04510, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2016,5,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1073\/pnas.77.5.2810","article-title":"Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation","volume":"77","author":"Pai","year":"1980","journal-title":"Proc. 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