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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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Short-chain dehydrogenases/reductases (SDR).

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.
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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.
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ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

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.
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Fundamental molecular differences between alcohol dehydrogenase classes.

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.