Výsledky vyhledávání - "Arantza Sanz-Parra"

Akademický článek

A molecular signature for the metabolic syndrome by urine metabolomics

Publikováno v: Cardiovascular Diabetology, Vol 20, Iss 1, Pp 1-13 (2021)

Abstract Background Metabolic syndrome (MetS) is a multimorbid long-term condition without consensual medical definition and a diagnostic based on compatible symptomatology. Here we have investigated the molecular signature of MetS in urine. Methods

Externí odkaz: https://doaj.org/article/fdd2825fb92b43c38b52b9294746026e

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Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria

Autor: Antonio Fontanellas, Rafael Enríquez de Salamanca, Arantza Sanz-Parra, Oscar Millet, Ana Sampedro, Naroa Serna, Fernando J. Corrales, Pedro Berraondo, Irantzu Serrano-Mendioroz

Publikováno v: Human Molecular Genetics. 27:3688-3696

A first-in-human gene therapy trial using a recombinant adeno-associated viral (rAAV) vector for acute intermittent porphyria (AIP) reveals that higher doses would be required to reach therapeutic levels of the porphobilinogen deaminase (PBGD) transg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38510d102e43dc5ce61fa769a7d0cfca
https://doi.org/10.1093/hmg/ddy283

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Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I

Autor: José M. Mato, Ganeko Bernardo-Seisdedos, Oscar Millet, Luca Unione, Jon Gil-Martínez, Arantza Sanz-Parra, David Fernández-Ramos, Iratxe Macías, Ana Laín, Fernando Lopitz-Otsoa

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 4
International Journal of Molecular Sciences, Vol 22, Iss 1789, p 1789 (2021)

Fumarylacetoacetate hydrolase (FAH) is the fifth enzyme in the tyrosine catabolism pathway. A deficiency in human FAH leads to hereditary tyrosinemia type I (HT1), an autosomal recessive disorder that results in the accumulation of toxic metabolites

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13ee09c1e3c2ce1850fa1c9d52a270d
https://doi.org/10.3390/ijms22041789

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Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition

Autor: Cécile Ged, Ganeko Bernardo-Seisdedos, Pedro Urquiza, Emmanuel Richard, Arantza Sanz-Parra, Jean-Marc Blouin, Magalie Lalanne, Julie Esteve, Hubert de Verneuil, Oscar Millet, Emma Sasso

Publikováno v: Human molecular genetics. 26(8)

Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::843c2cc30733e97506c745b0734101da
https://pubmed.ncbi.nlm.nih.gov/28334762

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Spn1 Regulates the GNBP3-Dependent Toll Signaling Pathway in Drosophila melanogaster

Autor: David Gubb, Arantza Sanz-Parra, Ane Fullaondo, Susana García-Sánchez, Emma Recio, So Young Lee

Publikováno v: Molecular and Cellular Biology. 31:2960-2972

The Drosophila genome encodes 29 serpins, most of unknown function. We show here that Spn1 is an active protease inhibitor of the serpin superfamily. Spn1 inhibits trypsin in vitro and regulates the Toll-mediated immune response in vivo. Expression o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dfec5f2dc19c7c22e9eba66d2781cd2
https://doi.org/10.1128/mcb.01397-10

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Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria

Autor: Paula Pluta, Oscar Millet, Fredj Ben Bdira, Juan M. Falcón-Pérez, Arantza Sanz-Parra, Ana Laín, Esperanza Gonzalez

Publikováno v: Human molecular genetics. 23(21)

Congenital erythropoietic porphyria (CEP) results from a deficiency in uroporphyrinogen III synthase enzyme (UROIIIS) activity that ultimately stems from deleterious mutations in the uroS gene. C73 is a hotspot for these mutations and a C73R substitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff9759a445b65754630690daad4e17f
https://pubmed.ncbi.nlm.nih.gov/24925316

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