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dc.contributor.author
Méndez, Manuel  
dc.contributor.author
Granata, Bárbara Xoana  
dc.contributor.author
Morán Jiménez, María J.  
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Parera, Victoria Estela  
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Batlle, Alcira María del C.  
dc.contributor.author
de Salamanca, Rafael Enríquez  
dc.contributor.author
Rossetti, Maria Victoria  
dc.date.available
2019-01-07T16:58:29Z  
dc.date.issued
2012-04  
dc.identifier.citation
Méndez, Manuel; Granata, Bárbara Xoana; Morán Jiménez, María J.; Parera, Victoria Estela; Batlle, Alcira María del C.; et al.; Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients; Springer; Journal Of Inherited Metabolic Disease; 4; 4-2012; 91-97  
dc.identifier.issn
2192-8312  
dc.identifier.uri
http://hdl.handle.net/11336/67554  
dc.description.abstract
A partial deficiency in protoporphyrinogen oxidase (PPOX) produces the acute/cutaneous (or mixed) variegate porphyria (VP), the third most frequent porphyria in Argentina. This autosomal dominant disorder is clinically characterized by skin lesions and/or acute neurovisceral attacks. The precise diagnosis of patients with a symptomatic VP is essential to provide accurate treatment. It is also critical to identify asymptomatic relatives to avoid precipitating factors and prevent acute attacks. Functional consequences of five PPOX missense mutations were evaluated in a prokaryotic expression system. Three mutations were found in families previously reported c.101A>T (p.E34V), c.670T>G (W224G), c.995G>C (G332A) and two were novel findings c.227C>T (p.S76F), c.1265A>G (p.Y422C). All mutations were identified in heterozygotes with reduced PPOX activity and variable clinical expression of the disease, including asymptomatic cases. Prokaryotic expression showed that all five missense mutations decreased the PPOX activity, demonstrating their detrimental effect on enzyme function, and thus, providing evidence for their causative role in VP. These results reinforce the importance of molecular genetic analysis for VP diagnosis and especially the usefulness of prokaryotic expression of missense mutations to assess their deleterious effect on PPOX activity. MM and BXG contributed equally to the publication. RES and MVR share senior authorship.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Springer  
dc.rights
info:eu-repo/semantics/restrictedAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
Functional Characterization  
dc.subject
Protoporphyrinogen Oxidase  
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Missense Mutations  
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Variegate Porphyria  
dc.subject.classification
Salud Ocupacional  
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Ciencias de la Salud  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2019-01-04T16:40:46Z  
dc.identifier.eissn
0141-8955  
dc.journal.volume
4  
dc.journal.pagination
91-97  
dc.journal.pais
Alemania  
dc.journal.ciudad
Berlin  
dc.description.fil
Fil: Méndez, Manuel. Universidad Complutense de Madrid; España  
dc.description.fil
Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina  
dc.description.fil
Fil: Morán Jiménez, María J.. Universidad Complutense de Madrid; España  
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Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina  
dc.description.fil
Fil: Batlle, Alcira María del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina  
dc.description.fil
Fil: de Salamanca, Rafael Enríquez. Universidad Complutense de Madrid; España  
dc.description.fil
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Universidad Complutense de Madrid; España  
dc.journal.title
Journal Of Inherited Metabolic Disease  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://link.springer.com/chapter/10.1007/8904_2011_77  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1007/8904_2011_77