Gemma Marfany Nadal
Jefe de Grupo Senior
Research group
Professional network profiles
Last Publications
- García-Arroyo R, Domènech EB, Herrera-Úbeda C, Asensi MA, Núñez de Arenas C, Cuezva JM, Garcia-Fernàndez J, Pallardó FV, Mirra S and Marfany G Exacerbated response to oxidative stress in the Retinitis Pigmentosa Cerkl(KD/KO) mouse model triggers retinal degeneration pathways upon acute light stress. REDOX BIOLOGY . 66: 102862-102862.
- Barbeito P, Martin-Morales R, Palencia-Campos A, Cerrolaza J, Rivas-Santos C, Gallego-Colastra L, Caparros-Martin JA, Martin-Bravo C, Martin-Hurtado A, Sánchez-Bellver L, Marfany G, Ruiz-Perez VL and Garcia-Gonzalo FR EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO. Frontiers in Cell and Developmental Biology . 11: 1190258-1190258.
- Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. JOURNAL OF MEDICAL GENETICS . 60(4): 406-415.
News
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First clinical guideline on Schaaf-Yang syndrome for professionals and families
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.
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This study identifies new functions in the gene that causes Machado-Joseph disease
The study, published in the journal Cell Reports, is led by Gemma Marfany, Human Molecular Genetics II · IRSJD, researcher at the Institute of Biomedicine of the UB (IBUB) and the CIBERER.
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Researchers find new transposon-derived genes related to autism and other neurological diseases
Institut de Recerca Sant Joan de Déu researchers collaborate in this study led by Professor Jordi Garcia Fernàndez, from the Faculty of Biology and the Institute of Biomedicine of the University of Barcelona (IBUB).