R
Roser Gonzàlez-Duarte
Researcher at University of Barcelona
Publications - 133
Citations - 5740
Roser Gonzàlez-Duarte is an academic researcher from University of Barcelona. The author has contributed to research in topics: Alcohol dehydrogenase & Retinitis pigmentosa. The author has an hindex of 37, co-authored 133 publications receiving 5469 citations. Previous affiliations of Roser Gonzàlez-Duarte include Carlos III Health Institute.
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Journal ArticleDOI
Short-chain dehydrogenases/reductases (SDR).
Hans Jörnvall,Bengt Persson,Maria Krook,Sílvia Atrian,Roser Gonzàlez-Duarte,Jonathan Jeffery,Debashis Ghosh +6 more
TL;DR: In the combined SDR superfamily, only one residue is strictly conserved and ascribed a crucial enzymatic function (Tyr 151 in the numbering system of human NAD(+)-linked prostaglandin dehydrogenase), and such a function is supported by chemical modifications, site-directed mutagenesis, and an active site position in those tertiary structures that have been characterized.
Journal ArticleDOI
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
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Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)
TL;DR: This is the first genetic report suggesting a direct link between retinal neurodegeneration in RP and sphingolipid-mediated apoptosis and a novel gene encoding a ceramide kinase (CERKL), which encompassed 13 exons.
Journal ArticleDOI
ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins
Lars Hjelmqvist,Lars Hjelmqvist,Miquel Tuson,Gemma Marfany,Enric Herrero,Susana Balcells,Roser Gonzàlez-Duarte +6 more
TL;DR: Subcellular localization and the response of yeast mutants to specific agents point to the involvement of ORMDL in protein folding in the ER, a novel gene family comprising three genes in humans and homologs in yeast, microsporidia, plants, Drosophila, urochordates and vertebrates.
Journal ArticleDOI
Fundamental molecular differences between alcohol dehydrogenase classes.
Olle Danielsson,Sílvia Atrian,Teresa Luque,Lars Hjelmqvist,Roser Gonzàlez-Duarte,Hans Jörnvall +5 more
TL;DR: The results bridge a previously apparent gap in the distribution of medium-chain alcohol dehydrogenases and establish a strictly conserved class III enzyme, consistent with an important role for this enzyme in cellular metabolism.