Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/75073
COMPARTIR / EXPORTAR:
logo share SHARE logo core CORE BASE
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE

Invitar a revisión por pares abierta
Campo DC Valor Lengua/Idioma
dc.contributor.authorCalpena, Eduardo-
dc.contributor.authorCasado, Mercedes-
dc.contributor.authorMartínez-Rubio, Dolores-
dc.contributor.authorNascimento, Andrés-
dc.contributor.authorColomer, Jaume-
dc.contributor.authorGargallo, Eva-
dc.contributor.authorGarcía-Cazorla, Angels-
dc.contributor.authorPalau Martínez, Francesc-
dc.contributor.authorArtuch, Rafael-
dc.contributor.authorEspinós, Carmen-
dc.date.accessioned2013-04-25T08:26:15Z-
dc.date.available2013-04-25T08:26:15Z-
dc.date.issued2012-07-06-
dc.identifier.citationJIMD Reports 7:123-128 (2013)es_ES
dc.identifier.urihttp://hdl.handle.net/10261/75073-
dc.description6 páginas, 1 figura. PAGS: 123-128es_ES
dc.description.abstractThe inherited 5-oxoprolinuria is primarily suggestive of genetic defects in two enzymes belonging to the gamma-glutamyl cycle in the glutathione (GSH) metabolism: the glutathione synthetase (GSS) and the 5-oxoprolinase (OPLAH). The GSS deficiency is the best characterized of the inborn errors of GSH metabolism, whereas the OPLAH deficiency is questioned whether it is a disorder or just a biochemical condition with no adverse clinical effects. Recently, the first human OPLAH mutation (p.H870Pfs) was reported in homozygosis in two siblings who suffered from 5-oxoprolinuria with a benign clinical course. We report two unrelated patients who manifested massive excretion of 5-oxoproline in urine. In both probands, the blood GSH levels were normal and no mutations were found in the GSS gene. The mutational screening of the OPLAH gene, which included the codified sequences, the intronic flanking sequences, the promoter sequence, and a genetic analysis in order to detect large deletions and/or duplications, showed that each patient only harbors one missense mutation in heterozygosis. The in silico analyses revealed that each one of these OPLAH mutations, p.S323R and p.V1089I, could alter the proper function of this homodimeric enzyme. In addition, clinical symptoms manifest in these two probands were not related to GSH cycle defects and, therefore, this study provides further evidence that oxoprolinuria may present as epiphenomenon in several pathological conditions and confound the final diagnosis.es_ES
dc.description.sponsorshipC.E. has a “Miguel Servet” contract funded by the Institutode Salud Carlos III(ISCIII). Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) is an initiative from the ISCIII.es_ES
dc.language.isoenges_ES
dc.publisherSociety for the Study of Inborn Errors of Metabolismes_ES
dc.publisherSpringer Naturees_ES
dc.rightsopenAccesses_ES
dc.title5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changeses_ES
dc.typeartículoes_ES
dc.identifier.doi10.1007/8904_2012_166-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttp://dx.doi.org/10.1007/8904_2012_166es_ES
dc.identifier.e-issn2192-8304-
dc.identifier.pmid23430506-
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.openairetypeartículo-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextopen-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextWith Fulltext-
Aparece en las colecciones: (IBV) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato
2013 JIMD Rep 7-123.pdf275,27 kBAdobe PDFVista previa
Visualizar/Abrir
Show simple item record

CORE Recommender

PubMed Central
Citations

5
checked on 27-mar-2024

SCOPUSTM   
Citations

15
checked on 23-mar-2024

WEB OF SCIENCETM
Citations

11
checked on 25-feb-2024

Page view(s)

496
checked on 28-mar-2024

Download(s)

373
checked on 28-mar-2024

Google ScholarTM

Check

Altmetric

Altmetric


Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.