1.
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14 p, 2.1 MB |
A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions
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Eraña, Hasier (ATLAS Molecular Pharma S. L) ;
Sampedro-Torres-Quevedo, Cristina (Basque Research and Technology Alliance) ;
Charco, Jorge M. (ATLAS Molecular Pharma S. L) ;
Díaz-Domínguez, Carlos M. (Instituto de Salut Carlos III. Centro de Investigación Biomédica en Red de Enfermedades infecciosas) ;
Peccati, Francesca (Basque Research and Technology Alliance) ;
San-Juan-Ansoleaga, Maitena (Basque Research and Technology Alliance) ;
Vidal Barba, Enric (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ;
Gonçalves-Anjo, Nuno (Basque Research and Technology Alliance) ;
Pérez-Castro, Miguel A. (Basque Research and Technology Alliance) ;
González-Miranda, Ezequiel (Basque Research and Technology Alliance) ;
Piñeiro, Patricia (Basque Research and Technology Alliance) ;
Fernández-Veiga, Leire (Basque Research and Technology Alliance) ;
Galarza-Ahumada, Josu (Basque Research and Technology Alliance) ;
Fernández-Muñoz, Eva (Basque Research and Technology Alliance) ;
Pérez de Nanclares, Guiomar (Hospital Universitario de Araba Molecular (Epi)Genetics Laboratory) ;
Telling, Glenn (Colorado State University. Prion Research Center) ;
Geijo, Maria V (NEIKER-Basque Institute for Agricultural Research and Development) ;
Jiménez-Osés, Gonzalo (Basque Foundation for Science) ;
Castilla, Joaquín (Basque Foundation for Science)
Prion diseases are a group of rapidly progressing neurodegenerative disorders caused by the misfolding of the endogenous prion protein (PrP C) into a pathogenic form (PrP Sc). This process, despite being the central event underlying these disorders, remains largely unknown at a molecular level, precluding the prediction of new potential outbreaks or interspecies transmission incidents. [...]
2024 - 10.1038/s41467-024-46360-2
Nature communications, Vol. 15 (march 2024)
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2.
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19 p, 1.1 MB |
New Generation Pulse Modulation in Holmium:YAG Lasers : A Systematic Review of the Literature and Meta-Analysis
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Sánchez-Puy, Antoni (Universitat Autònoma de Barcelona. Departament de Cirurgia) ;
Bravo-Balado, Alejandra (Fundació Puigvert) ;
Diana, Pietro (Fundació Puigvert) ;
Baboudjian, Michael (APHM Conception Academic Hospital) ;
Piana, Alberto (Fundació Puigvert) ;
Girón, Irene (Fundació Puigvert) ;
Kanashiro, Andrés (Fundació Puigvert) ;
Angerri, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Contreras, Pablo (Hospital Alemán de Buenos Aires) ;
Eisner, Brian H. (Harvard Medical School) ;
Balañà, Josep (Fundació Puigvert) ;
Sánchez-Martín, Francisco M. (Fundació Puigvert) ;
Millán Rodríguez, Félix (Fundació Puigvert) ;
Palou, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Emiliani, Esteban (Institut d'Investigació Biomèdica Sant Pau)
New pulse modulation (PM) technologies in Holmium:YAG lasers are available for urinary stone treatment, but little is known about them. We aim to systematically evaluate the published evidence in terms of their lithotripsy performance. [...]
2022 - 10.3390/jcm11113208
Journal of clinical medicine, Vol. 11 Núm. 11 (6-1 2022) , p. 3208
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3.
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4.
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9 p, 525.7 KB |
Phase IIa Proof-of-Concept Evaluation of the Antiviral Efficacy, Safety, Tolerability, and Pharmacokinetics of the Next-Generation Maturation Inhibitor GSK3640254
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Spinner, Christoph D. (Technical University of Munich) ;
Felizarta, Franco (Office of Franco Felizarta) ;
Rizzardini, Giuliano (University of the Witwatersrand) ;
Philibert, Patrick (Hôpital Europen de Marseille) ;
Mitha, Essack (Newtown Clinical Research) ;
Domingo, Pere (Institut d'Investigació Biomèdica Sant Pau) ;
Stephan, Christoph J. (Universitätsklinikum Frankfurt) ;
Degrosky, Michelle (ViiV Healthcare) ;
Bainbridge, Veronica (GlaxoSmithKline) ;
Zhan, Joyce (GlaxoSmithKline) ;
Dumitrescu, Teodora Pene (GlaxoSmithKline) ;
Jeffrey, Jerry L. (ViiV Healthcare. Research Triangle Park) ;
Xu, Jianfeng (GlaxoSmithKline) ;
Halliday, Fiona (GlaxoSmithKline) ;
Gan, Jianjun (GlaxoSmithKline) ;
Johnson, Mark (ViiV Healthcare. Research Triangle Park) ;
Gartland, Martin (ViiV Healthcare. Research Triangle Park) ;
Joshi, Samit R. (ViiV Healthcare) ;
Lataillade, Max (ViiV Healthcare) ;
Universitat Autònoma de Barcelona
GSK3640254 (GSK'254) is a next-generation human immunodeficiency virus type 1 (HIV-1) maturation inhibitor with pharmacokinetics (PK) supporting once-daily therapy. This phase IIa double-blind (sponsor-unblinded), randomized, placebo-controlled, adaptive study evaluated antiviral effect, safety, tolerability, and PK of once-daily GSK'254 monotherapy administered with food (moderate-fat meal) in HIV-1-positive, treatment-naive adults. [...]
2022 - 10.1093/cid/ciab1065
Clinical Infectious Diseases, Vol. 75 Núm. 5 (january 2022) , p. 786-794
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5.
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6.
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10 p, 1.3 MB |
Two-Time Multiplexed Targeted Next-Generation Sequencing Might Help the Implementation of Germline Screening Tools for Myelodysplastic Syndromes/Hematologic Neoplasms
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Calvete, Oriol (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mestre, Julia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Risueño, Ruth M. (University of Atlántico Medio, Las Palmas) ;
Manzanares Mileo, Ana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Acha, Pamela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Next-generation sequencing (NGS) tools have importantly helped the classification of myelodysplastic syndromes (MDS), guiding the management of patients. However, new concerns are under debate regarding their implementation in routine clinical practice for the identification of germline predisposition. [...]
2023 - 10.3390/biomedicines11123222
Biomedicines, Vol. 11 Núm. 12 (december 2023)
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7.
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5 p, 888.1 KB |
Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)
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Kuebler, Bernd (Banc Nacional de Cèl·lules Mare-Node de Barcelona) ;
Aran, Begoña (Banc Nacional de Cèl·lules Mare-Node de Barcelona) ;
Miquel-Serra, Laia (Centre de Medicina Regenerativa de Barcelona (CMRB)) ;
Muñoz, Yolanda (Centre de Medicina Regenerativa de Barcelona (CMRB)) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Bullich Vilanova, Gemma (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Marti, Merce (Centre de Medicina Regenerativa de Barcelona (CMRB)) ;
Veiga, Anna (Centre de Medicina Regenerativa de Barcelona (CMRB)) ;
Raya, Ángel (Institució Catalana de Recerca i Estudis Avançats) ;
Universitat Autònoma de Barcelona
Skin biopsies were obtained from two male patients with X-linked Alport syndrome (XLAS) with hemizygous COL4A5 mutations in exon 41 or exon 46. Dermal fibroblasts were extracted and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53 shRNA. [...]
2017 - 10.1016/j.scr.2017.08.019
Stem Cell Research, Vol. 25 (december 2017) , p. 291-295
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8.
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12 p, 796.6 KB |
Mitochondrial DNA control region typing from highly degraded skeletal remains by single-multiplex next-generation sequencing
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Vinueza-Espinosa, Diana C. (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Cuesta-Aguirre, Daniel R. (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Malgosa Morera, Assumpció (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Poor nuclear DNA preservation from highly degraded skeletal remains is the most limiting factor for the genetic identification of individuals. Mitochondrial DNA (mtDNA) typing, and especially of the control region (CR), using next-generation sequencing (NGS), enables retrieval of valuable genetic information in forensic contexts where highly degraded human skeletal remains are the only source of genetic material. [...]
2023 - 10.1002/elps.202200052
Electrophoresis, Vol. 44, Issue 17-18 (September 2023) , p. 1423-1434
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9.
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8 p, 3.0 MB |
Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family
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Alías, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Crespí, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Téllez, Jesus (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez, Elisabeth (Institut d'Investigació Biomèdica Sant Pau) ;
Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. [...]
2018 - 10.1186/s12881-018-0590-0
BMC Medical Genetics, Vol. 19 Núm. 1 (november 2018) , p. 77
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10.
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5 p, 1.0 MB |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene
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Rodríguez-Traver, E. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Rodríguez, C. (Hospital General Universitario Gregorio Marañón) ;
Díaz-Guerra, E. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Arenas, Fabián (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Araúzo-Bravo, Marcos (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Orera, Maria (Gregorio Marañón Hospital) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Moratalla, R. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Vicario, Carlos (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Universitat Autònoma de Barcelona
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We report the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from a female PD patient carrying the L444P/wt mutation. [...]
2019 - 10.1016/j.scr.2019.101578
Stem Cell Research, Vol. 40 (october 2019) , p. 101578
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