G
Gemma Marfany
Researcher at University of Barcelona
Publications - 95
Citations - 2474
Gemma Marfany is an academic researcher from University of Barcelona. The author has contributed to research in topics: Gene & Retinitis pigmentosa. The author has an hindex of 27, co-authored 87 publications receiving 2120 citations. Previous affiliations of Gemma Marfany include John Radcliffe Hospital & Carlos III Health Institute.
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Journal ArticleDOI
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
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.
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High copy number of highly similar mariner-like transposons in planarian (Platyhelminthe): evidence for a trans-phyla horizontal transfer.
Jordi Garcia-Fernàndez,J R Bayascas-Ramírez,Gemma Marfany,A. M. Muñoz-Mármol,Andreu Casali,Jaume Baguñà,Emili Saló +6 more
TL;DR: The high degree of similarity shared with other mariner elements from some arthropods, together with the fact that this element is undetectable in other planarian species, strongly suggests a case of horizontal transfer between these two distant phyla.
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The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies.
Elena B. Domènech,Gemma Marfany +1 more
TL;DR: This work analyzes how the alteration of cellular endogenous pathways for protection against oxidative stress leads to retinal dysfunction in prevalent (age-related macular degeneration, glaucoma) as well as in rare genetic visual disorders (Retinitis pigmentosa, Leber hereditary optic neuropathy).
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SUMO and ubiquitin paths converge.
Amanda Denuc,Gemma Marfany +1 more
TL;DR: Several cases in which SUMOylation and ubiquitination intersect are reviewed, showing also that the same protein can be conjugated to SUMO and Ub for antagonistic, synergistic or multiple outcomes, illustrating the intricacy of the cellular signalling networks.