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15 p, 2.7 MB |
Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology
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Navarro, Alba (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernández González, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Riera del Brio, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montpeyó Garcia-Moreno, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Albert-Bayo, Mercé (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lopez-Royo, Tresa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castillo-Sanchez, Pablo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Carnicer-Cáceres, Clara (Institució Catalana de Recerca i Estudis Avançats) ;
Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castillo-Ribelles, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pradas-Gracia, Eddie (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Casas, Josefina (Institut de Química Avançada de Catalunya) ;
Vila Bover, Miquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martinez-Vicente, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major genetic risk factor for Parkinson's disease (PD). In this study, we generated a set of differentiated and stable human dopaminergic cell lines that express the two most prevalent GBA mutations as well as GBA knockout cell lines as a in vitro disease modeling system to study the relationship between mutant GBA and the abnormal accumulation of α-synuclein. [...]
2022 -  10.1038/s41531-022-00397-6
NPJ Parkinson's disease, Vol. 8 (october 2022)
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32 p, 13.6 MB |
The Arabidopsis SAC9 enzyme is enriched in a cortical population of early endosomes and restricts PI(4,5)P2 at the plasma membrane
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Lebecq, Alexis (Université de Lyon) ;
Doumane, Mehdi (Université de Lyon) ;
Fangain, Aurelie (Université de Lyon) ;
Bayle, Vincent (Université de Lyon) ;
Leong, Jia Xuan (University of Tübingen) ;
Rozier, Frédérique (Université de Lyon) ;
Marques-Bueno, Mar (Centre de Recerca en Agrigenòmica) ;
Armengot, Laia (Centre de Recerca en Agrigenòmica) ;
Boisseau, Romain (University of Montana. Division of Biological Science) ;
Simon, Mathilde Laetitia (Université de Lyon) ;
Franz-Wachtel, Mirita (University of Tübingen. Department of Quantitative Proteomics) ;
Macek, Boris (University of Tübingen. Department of Quantitative Proteomics) ;
Üstün, Suayib (Ruhr-University Bochum) ;
Jaillais, Yvon (Université de Lyon) ;
Caillaud, Marie-Cécile (Université de Lyon)
Membrane lipids, and especially phosphoinositides, are differentially enriched within the eukaryotic endomembrane system. This generates a landmark code by modulating the proper-ties of each membrane. [...]
2022 - 10.7554/eLife.73837
eLife, Vol. 11 (August 2022) , art. e73837
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3.
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15 p, 1.7 MB |
Effect of cryoprotectant concentration on bovine oocyte permeability and comparison of two membrane permeability modelling approaches
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Garcia Martinez, Tania (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Mogas Amorós, Teresa (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Mullen, Steven F. (COOK Medical) ;
Martínez-Rodero, Iris (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Gulieva, Ramila E. (Oregon State University. School of Chemical, Biological and Environmental Engineering) ;
Higgins, Adam Z. (Oregon State University. School of Chemical, Biological and Environmental Engineering)
The plasma membrane permeability to water and cryoprotectant (CPA) significantly impacts vitrification efficiency of bovine oocytes. Our study was designed to determine the concentration-dependent permeability characteristics for immature (GV) and mature (MII) bovine oocytes in the presence of ethylene glycol (EG) and dimethyl sulphoxide (MeSO), and to compare two different modeling approaches: the two parameter (2P) model and a nondilute transport model. [...]
2021 - 10.1038/s41598-021-94884-0
Scientific reports, Vol. 11 (july 2021)
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4.
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17 p, 6.0 MB |
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
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Higgins, Kendall (The University of Miami Leonard M. Miller School of Medicine) ;
Moore, Bret A. (University of Florida. Department of Small Animal Clinical Sciences) ;
Berberovic, Zorana (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Adissu, Hibret A. (Covance Inc) ;
Eskandarian, Mohammad (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Flenniken, Ann M. (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Shao, Andy (University of Reno. School of Medicine) ;
Imai, Denise M. (U.C. Davis. Comparative Pathology Laboratory) ;
Clary, Dave (U.C. Davis. Mouse Biology Program) ;
Lanoue, Louise (U.C. Davis. Mouse Biology Program) ;
Newbigging, Susan (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Nutter, Lauryl M. J. (The Hospital for Sick Children) ;
Adams, David J. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG)) ;
Braun, Robert E. (The Jackson Laboratory) ;
Brown, Steve D. M. (Medical Research Council Harwell Institute) ;
Dickinson, Mary E. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Dobbie, Michael (The Australian National University. Phenomics Australia) ;
Flicek, Paul (European Bioinformatics Institute. European Molecular Biology Laboratory) ;
Gao, Xiang (Nanjing University. SKL of Pharmaceutical Biotechnology and Model Animal Research Center) ;
Galande, Sanjeev (Indian Institutes of Science Education and Research) ;
Grobler, Anne (PCDDP North-West University. Faculty of Health Sciences) ;
Heaney, Jason D. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Herault, Yann (Université of Strasbourg. Institut Clinique de la Souris) ;
De Angelis, Martin Hrabe (German Research Center for Environmental Health. German Mouse Clinic) ;
Chin, Hsian-Jean Genie (National Laboratory Animal Center. National Applied Research Laboratories) ;
Mammano, Fabio (Institute of Cell Biology and Neurobiology. Monterotondo Mouse Clinic) ;
Qin, Chuan (Chinese Academy of Medical Science. Institute of Laboratory Animal Sciences) ;
Shiroishi, Toshihiko (RIKEN BioResource Center) ;
Sedlacek, Radislav (Institute of Molecular Genetics of the Czech Academy of Sciences. Czech Center for Phenogenomics) ;
Seong, J.-K. (Seoul National University. Korea Mouse Phenotyping Consortium) ;
Xu, Ying (Soochow University. CAM-SU Genomic Resource Center) ;
Lloyd, K. C. Kent (U.C. Davis. Department of Surgery, School of Medicine) ;
McKerlie, Colin (Hospital for Sick Children) ;
Moshiri, Ala (U.C. Davis Eye Center. Department of Ophthalmology and Vision Science, School of Medicine)
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or reproductive trait abnormalities. [...]
2022 - 10.1038/s41598-022-19710-7
Scientific reports, Vol. 12 (december 2022)
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13 p, 1.3 MB |
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing
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Ferreira, Pedro G. (Centre de Regulació Genòmica) ;
Oti, Martin (Federal University of Rio de Janeiro. Institute of Biophysics Carlos Chagas Filho) ;
Barann, Matthias (Christians-Albrechts-Universität zu Kiel. Institute of Clinical Molecular Biology) ;
Wieland, Thomas (Helmholtz Center Munich. Institute of Human Genetics) ;
Ezquina, Suzana (University of São Paulo. Center for Human Genome and Stem-cell research) ;
Friedländer, Marc R. (Stockholm University. Science for Life Laboratory) ;
Rivas, Manuel A. (University of Oxford. Wellcome Trust Centre for Human Genetics) ;
Esteve-Codina, Anna (Centre de Recerca en Agrigenòmica) ;
Rosenstiel, Philip (Christians-Albrechts-Universität zu Kiel. Institute of Clinical Molecular Biology) ;
Strom, Tim M. (Technische Universität München. Institute of Human Genetics) ;
Lappalainen, Tuuli (University of Geneva. Institute for Genetics and Genomics in Geneva) ;
Guigó, Roderic (Universitat Pompeu Fabra) ;
Sammeth, Michael (National Center of Scientific Computing (Brazil))
Recent advances in the cost-efficiency of sequencing technologies enabled the combined DNA- and RNA-sequencing of human individuals at the population-scale, making genome-wide investigations of the inter-individual genetic impact on gene expression viable. [...]
2016 - 10.1038/srep32406
Scientific reports, Vol. 6 (September 2016) , art. 32406
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20 p, 4.8 MB |
Graphene, other carbon nanomaterials and the immune system : toward nanoimmunity-by-design
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Gazzi, Arianna (Basque Foundation for Science) ;
Fusco, Laura (Basque Foundation for Science) ;
Orecchioni, Marco (University of Sassari. Department of Chemistry and Pharmacy) ;
Ferrari, Silvia (University of Sassari. Department of Chemistry and Pharmacy) ;
Franzoni, Giulia (Istituto Zooprofilattico Sperimentale della Sardegna) ;
Yan, J. Stephen (Rice University. Smalley-Curl Institute. Department of Chemical and Biomolecular Engineering. Department of Chemistry) ;
Rieckher, Matthias (University of Cologne. Institute for Genome Stability in Aging and Disease. Cologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases (CECAD). Center for Molecular Medicine Cologne (CMMC)) ;
Peng, Guotao (Karolinska Institutet (Estocolm, Suècia). Institute of Environmental Medicine) ;
Lucherelli, Matteo Andrea (Centre National de la Recherche Scientifique (França)) ;
Vacchi, Isabella Anna (Centre National de la Recherche Scientifique (França)) ;
Quyen Chau, Ngoc Do (Centre National de la Recherche Scientifique (França)) ;
Criado, Alejandro (CIC BiomaGUNE. Carbon Nanobiotechnology Laboratory) ;
Istif, Akcan (University of Trieste. Department of Chemical and Pharmaceutical Sciences) ;
Mancino, Donato (CIC BiomaGUNE. Carbon Nanobiotechnology Laboratory) ;
Dominguez, Antonio (CIC BiomaGUNE. Carbon Nanobiotechnology Laboratory) ;
Eckert, Hagen (Institute for Materials Science and Max Bergmann Center of Biomaterials) ;
Vázquez, Ester (Universidad de Castilla-La Mancha. Instituto Regional de Investigacion Cientifica Aplicada) ;
Da Ros, Tatiana (University of Trieste. Department of Chemical and Pharmaceutical Sciences) ;
Nicolussi, Paola (Istituto Zooprofilattico Sperimentale della Sardegna) ;
Palermo, Vincenzo (Chalmers University of Technology, Industrial and Materials Science) ;
Schumacher, Björn (University of Cologne. Institute for Genome Stability in Aging and Disease. Cologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases (CECAD). Center for Molecular Medicine Cologne (CMMC)) ;
Cuniberti, Gianaurelio (Institute for Materials Science and Max Bergmann Center of Biomaterials) ;
Mai, Yiyong (Shanghai Jiao Tong University. School of Chemistry and Chemical Engineering) ;
Clementi, Cecilia (Rice University. Smalley-Curl Institute. Department of Chemical and Biomolecular Engineering. Department of Chemistry) ;
Pasquali, Matteo (Rice University. Smalley-Curl Institute. Department of Chemical and Biomolecular Engineering. Department of Chemistry) ;
Feng, Xinliang (Technische Universität Dresden. Center for Advancing Electronics Dresden and Department of Chemistry and Food Chemistry) ;
Kostarelos, Kostas (Institut Català de Nanociència i Nanotecnologia) ;
Yilmazer, Acelya (University of Ankara. Stem Cell Institute) ;
Bedognetti, Davide (Education City. Sidra Medicine. Sidra Research Branch. Cancer Research Department (Qatar)) ;
Fadeel, Bengt (Karolinska Institutet (Estocolm, Suècia). Institute of Environmental Medicine) ;
Prato, Maurizio (Basque Foundation for Science) ;
Bianco, Alberto (Centre National de la Recherche Scientifique (França)) ;
Delogu, Lucia Gemma (University of Padua. Department of Biomedical Sciences)
Carbon-based materials (CBMs), such as graphene, nanodiamonds, carbon fibers, and carbon dots, have attracted a great deal scientific attention due to their potential as biomedical tools. Following exposure, particularly intravenous injection, these nanomaterials can be recognized by immune cells. [...]
2020 - 10.1088/2515-7639/ab9317
JPhys materials, Vol. 3, Issue 3 (July 2020) , art. 34009
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19 p, 3.7 MB |
Nuclear RNA purification by flow cytometry to study nuclear processes in plants
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Moro, Belen (Centre de Recerca en Agrigenòmica) ;
Kisielow, Malgorzata (Zurich Flow Cytomtery Core Facility) ;
Barragan Borrero, Veronica (Gregor Mendel Institute of Molecular Plant Biology) ;
Bouet, Antoine (Centre de Recerca en Agrigenòmica) ;
Brosnan, Christopher (University of Queensland, Brisbane) ;
Bologna, Nicolás (Centre de Recerca en Agrigenòmica)
The nature of plant tissues has continuously hampered understanding of the spatio-temporal and subcellular distribution of RNA-guided processes. Here, we describe a universal protocol based on Arabidopsis to investigate subcellular RNA distribution from virtually any plant species using flow cytometry sorting. [...]
2021 - 10.1016/j.xpro.2021.100320
STAR Protocols, Vol. 2, Issue 1 (March 2021) , art. 100320
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18 p, 2.5 MB |
The transcribed pseudogene RPSAP52 enhances the oncofetal HMGA2-IGF2BP2-RAS axis through LIN28B-dependent and independent let-7 inhibition
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Oliveira-Mateos, Cristina (Institut d'Investigació Biomèdica de Bellvitge) ;
Sánchez-Castillo, Anaís (Centro de Investigación Biomédica en Red de Cáncer) ;
Soler, Marta (Institut d'Investigació Biomèdica de Bellvitge) ;
Obiols-Guardia, Aida (Institut d'Investigació Biomèdica de Bellvitge) ;
Piñeyro, David (Institut d'Investigació Biomèdica de Bellvitge) ;
Boque-Sastre, Raquel (Cardiff School of Biosciences. Cardiff University) ;
Calleja-Cervantes, María Eréndira (Institut d'Investigació Biomèdica de Bellvitge) ;
Castro de Moura, Manuel (Institut d'Investigació Biomèdica de Bellvitge) ;
Martínez Cardús, Anna (Institut d'Investigació Biomèdica de Bellvitge) ;
Rubio Lopez, Maria Teresa (Institut d'Investigació Biomèdica de Bellvitge) ;
Pelletier, Joffrey (Institut d'Investigació Biomèdica de Bellvitge) ;
Martínez-Iniesta, Maria (Institut d'Investigació Biomèdica de Bellvitge) ;
Herrero-Martín, David (Institut d'Investigació Biomèdica de Bellvitge) ;
Tirado, Oscar M. (Institut d'Investigació Biomèdica de Bellvitge) ;
Gentilella, Antonio (Universitat de Barcelona. Departament de Bioquímica i Biologia Molecular) ;
Villanueva, Alberto (Institut d'Investigació Biomèdica de Bellvitge) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Farré, Lourdes (Fundação Oswaldo Cruz (Brasil)) ;
Guil, Sonia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
One largely unknown question in cell biology is the discrimination between inconsequential and functional transcriptional events with relevant regulatory functions. Here, we find that the oncofetal HMGA2 gene is aberrantly reexpressed in many tumor types together with its antisense transcribed pseudogene RPSAP52. [...]
2019 - 10.1038/s41467-019-11910-6
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3979
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