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Your search keyword '"Charco, Jorge M. [0000-0003-3476-1855]"' showing total 3 results
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3 results on '"Charco, Jorge M. [0000-0003-3476-1855]"'

1. Bona fide atypical scrapie faithfully reproduced for the first time in a rodent model

Author

Ministerio de Economía y Competitividad (España), European Commission, Fundació La Marató de TV3, Generalitat de Catalunya, Vidal, Enric [0000-0002-4965-3286], Sánchez-Martín, Manuel A.[0000-0001-8370-1336], Eraña, Hasier [0000-0001-8776-4211], Lázaro, Sonia Pérez [0000-0002-2079-0711], Pérez-Castro, Miguel A.[0000-0003-2850-3470], Otero, Alicia [0000-0001-9075-2764], Charco, Jorge M. [0000-0003-3476-1855], Marín, Belén [0000-0002-1590-3347], López-Moreno, Rafael [0000-0002-2155-8965], Díaz-Domínguez, Carlos M. [0000-0002-0410-1963], Geijo, Mariví [0000-0002-3120-1038], Ordóñez, Montserrat [0000-0002-2389-7733], Cantero, Guillermo [0000-0003-4200-503X], di Bari, Michele [0000-0003-0943-6823], Lorenzo, Nuria L.[0000-0002-6444-6269], Pirisinu, Laura [0000-0002-6548-8225], Torres, Juan María [0000-0003-0443-9232], Béringue, V. [0000-0001-6706-5712], Telling, Glenn [0000-0002-6294-1805], Badiola, Juan J. [0000-0002-7173-7216], Pumarola, Martí [0000-0002-0935-7941], Bolea, Rosa [0000-0002-2746-3932], Nonno, Romolo [0000-0001-7556-1564], Requena, J. R. [0000-0003-1954-4975], Castilla, Joaquín [0000-0002-2216-1361], Vidal, Enric, Sánchez-Martín, Manuel Adolfo, Eraña, Hasier, Lázaro, Sonia Pérez, Pérez-Castro, Miguel A., Otero, Alicia, Charco, Jorge M., Marín, Belén, López-Moreno, Rafael, Díaz-Domínguez, Carlos M., Geijo, Mariví, Ordóñez, Montserrat, Cantero, Guillermo, di Bari, Michele, Lorenzo, Nuria L., Pirisinu, Laura, D'Agostino, Claudia, Torres, Juan María, Béringue, V., Telling, Glenn, Badiola, Juan J., Pumarola, Martí, Bolea, Rosa, Nonno, Romolo, Requena, Jesús R., Castilla, Joaquín, Ministerio de Economía y Competitividad (España), European Commission, Fundació La Marató de TV3, Generalitat de Catalunya, Vidal, Enric [0000-0002-4965-3286], Sánchez-Martín, Manuel A.[0000-0001-8370-1336], Eraña, Hasier [0000-0001-8776-4211], Lázaro, Sonia Pérez [0000-0002-2079-0711], Pérez-Castro, Miguel A.[0000-0003-2850-3470], Otero, Alicia [0000-0001-9075-2764], Charco, Jorge M. [0000-0003-3476-1855], Marín, Belén [0000-0002-1590-3347], López-Moreno, Rafael [0000-0002-2155-8965], Díaz-Domínguez, Carlos M. [0000-0002-0410-1963], Geijo, Mariví [0000-0002-3120-1038], Ordóñez, Montserrat [0000-0002-2389-7733], Cantero, Guillermo [0000-0003-4200-503X], di Bari, Michele [0000-0003-0943-6823], Lorenzo, Nuria L.[0000-0002-6444-6269], Pirisinu, Laura [0000-0002-6548-8225], Torres, Juan María [0000-0003-0443-9232], Béringue, V. [0000-0001-6706-5712], Telling, Glenn [0000-0002-6294-1805], Badiola, Juan J. [0000-0002-7173-7216], Pumarola, Martí [0000-0002-0935-7941], Bolea, Rosa [0000-0002-2746-3932], Nonno, Romolo [0000-0001-7556-1564], Requena, J. R. [0000-0003-1954-4975], Castilla, Joaquín [0000-0002-2216-1361], Vidal, Enric, Sánchez-Martín, Manuel Adolfo, Eraña, Hasier, Lázaro, Sonia Pérez, Pérez-Castro, Miguel A., Otero, Alicia, Charco, Jorge M., Marín, Belén, López-Moreno, Rafael, Díaz-Domínguez, Carlos M., Geijo, Mariví, Ordóñez, Montserrat, Cantero, Guillermo, di Bari, Michele, Lorenzo, Nuria L., Pirisinu, Laura, D'Agostino, Claudia, Torres, Juan María, Béringue, V., Telling, Glenn, Badiola, Juan J., Pumarola, Martí, Bolea, Rosa, Nonno, Romolo, Requena, Jesús R., and Castilla, Joaquín

Abstract

Atypical Scrapie, which is not linked to epidemics, is assumed to be an idiopathic spontaneous prion disease in small ruminants. Therefore, its occurrence is unlikely to be controlled through selective breeding or other strategies as it is done for classical scrapie outbreaks. Its spontaneous nature and its sporadic incidence worldwide is reminiscent of the incidence of idiopathic spontaneous prion diseases in humans, which account for more than 85% of the cases in humans. Hence, developing animal models that consistently reproduce this phenomenon of spontaneous PrP misfolding, is of importance to study the pathobiology of idiopathic spontaneous prion disorders. Transgenic mice overexpressing sheep PrPC with I112 polymorphism (TgShI112, 1-2 × PrP levels compared to sheep brain) manifest clinical signs of a spongiform encephalopathy spontaneously as early as 380 days of age. The brains of these animals show the neuropathological hallmarks of prion disease and biochemical analyses of the misfolded prion protein show a ladder-like PrPres pattern with a predominant 7-10 kDa band. Brain homogenates from spontaneously diseased transgenic mice were inoculated in several models to assess their transmissibility and characterize the prion strain generated: TgShI112 (ovine I112 ARQ PrPC), Tg338 (ovine VRQ PrPC), Tg501 (ovine ARQ PrPC), Tg340 (human M129 PrPC), Tg361 (human V129 PrPC), TgVole (bank vole I109 PrPC), bank vole (I109I PrPC), and sheep (AHQ/ARR and AHQ/AHQ churra-tensina breeds). Our analysis of the results of these bioassays concludes that the strain generated in this model is indistinguishable to that causing atypical scrapie (Nor98). Thus, we present the first faithful model for a bona fide, transmissible, ovine, atypical scrapie prion disease.

Published
2022

2. Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

Author

Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundació La Marató de TV3, CSIC - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Ximelis, Teresa [0000-0002-9634-1496], Marín-Moreno, Alba [0000-0002-4023-6398], Espinosa Martín, Juan Carlos [0000-0002-6719-9902], Eraña, Hasier [0000-0001-8776-4211], Charco, Jorge M. [0000-0003-3476-1855], Alcolea, Daniel [0000-0002-3819-3245], González-Roca, Eva [0000-0002-1126-0321], Aldecoa, Iban [0000-0001-5774-7453], Molina-Porcel, Laura [0000-0003-4068-8578], Parchi, Piero [0000-0002-9444-9524], Rossi, Marcello [0000-0002-8125-6571], Castilla, Joaquín [0000-0002-2216-1361], Ruiz-García, Raquel [0000-0002-8403-3613], Gelpi, Ellen [0000-0003-2948-4187], Torres, Juan María [0000-0003-0443-9232], Sánchez-Valle, Raquel [0000-0001-7750-896X], Ximelis, Teresa, Marín-Moreno, Alba, Espinosa Martín, Juan Carlos, Eraña, Hasier, Charco, Jorge M., Hernández, Isabel, Riveira, Carmen, Alcolea, Daniel, González-Roca, Eva, Aldecoa, Iban, Molina-Porcel, Laura, Parchi, Piero, Rossi, Marcello, Castilla, Joaquín, Ruiz-García, Raquel, Gelpi, Ellen, Torres, Juan María, Sánchez-Valle, Raquel, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundació La Marató de TV3, CSIC - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Ximelis, Teresa [0000-0002-9634-1496], Marín-Moreno, Alba [0000-0002-4023-6398], Espinosa Martín, Juan Carlos [0000-0002-6719-9902], Eraña, Hasier [0000-0001-8776-4211], Charco, Jorge M. [0000-0003-3476-1855], Alcolea, Daniel [0000-0002-3819-3245], González-Roca, Eva [0000-0002-1126-0321], Aldecoa, Iban [0000-0001-5774-7453], Molina-Porcel, Laura [0000-0003-4068-8578], Parchi, Piero [0000-0002-9444-9524], Rossi, Marcello [0000-0002-8125-6571], Castilla, Joaquín [0000-0002-2216-1361], Ruiz-García, Raquel [0000-0002-8403-3613], Gelpi, Ellen [0000-0003-2948-4187], Torres, Juan María [0000-0003-0443-9232], Sánchez-Valle, Raquel [0000-0001-7750-896X], Ximelis, Teresa, Marín-Moreno, Alba, Espinosa Martín, Juan Carlos, Eraña, Hasier, Charco, Jorge M., Hernández, Isabel, Riveira, Carmen, Alcolea, Daniel, González-Roca, Eva, Aldecoa, Iban, Molina-Porcel, Laura, Parchi, Piero, Rossi, Marcello, Castilla, Joaquín, Ruiz-García, Raquel, Gelpi, Ellen, Torres, Juan María, and Sánchez-Valle, Raquel

Abstract

More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date.

Published
2021

3. Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

Author

Ximelis, Teresa, Marín-Moreno, Alba, Espinosa, J. C., Eraña, H., Charco, J. M., Hernández, I., Riveira, C., Alcolea, Daniel, González-Roca, E., Aldecoa, Iban, Molina-Porcel, L., Parchi, P., Rossi, M., Castilla, Joaquín, Ruiz-García, R., Gelpi, E., Torres, J. M., Sánchez-Valle, Raquel, Universitat Autònoma de Barcelona, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundació La Marató de TV3, CSIC - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Ximelis, Teresa, Marín-Moreno, Alba, Espinosa, Juan Carlos, Eraña, Hasier, Charco, Jorge M, Alcolea, Daniel, González-Roca, Eva, Aldecoa, Iban, Molina-Porcel, Laura, Parchi, Piero, Rossi, Marcello, Castilla, Joaquín, Ruiz-García, Raquel, Gelpi, Ellen, Torres, Juan María, Sánchez-Valle, Raquel, Ximelis, Teresa [0000-0002-9634-1496], Marín-Moreno, Alba [0000-0002-4023-6398], Espinosa, Juan Carlos [0000-0002-6719-9902], Eraña, Hasier [0000-0001-8776-4211], Charco, Jorge M [0000-0003-3476-1855], Alcolea, Daniel [0000-0002-3819-3245], González-Roca, Eva [0000-0002-1126-0321], Aldecoa, Iban [0000-0001-5774-7453], Molina-Porcel, Laura [0000-0003-4068-8578], Parchi, Piero [0000-0002-9444-9524], Rossi, Marcello [0000-0002-8125-6571], Castilla, Joaquín [0000-0002-2216-1361], Ruiz-García, Raquel [0000-0002-8403-3613], Gelpi, Ellen [0000-0003-2948-4187], Torres, Juan María [0000-0003-0443-9232], Sánchez-Valle, Raquel [0000-0001-7750-896X], Ximelis T., Marin-Moreno A., Espinosa J.C., Erana H., Charco J.M., Hernandez I., Riveira C., Alcolea D., Gonzalez-Roca E., Aldecoa I., Molina-Porcel L., Parchi P., Rossi M., Castilla J., Ruiz-Garcia R., Gelpi E., Torres J.M., and Sanchez-Valle R.

Subjects
Proband, Prions, Cognitive Neuroscience, animal diseases, Neurosciences. Biological psychiatry. Neuropsychiatry, Neuropathology, Biology, medicine.disease_cause, Prion Protein, Genetic analysis, Prion Proteins, Prion Diseases, PRNP, Mice, Gene PRNP, medicine, Animals, Humans, Gerstmann-Straussler-Scheinker Disease, GSS, Homozygous, RC346-429, Index case, Genetics, Mutation, Animal, Research, Brain, Homozygou, Recombinant Protein, Recombinant Proteins, Prion Disease, nervous system diseases, Neurology, Prion, Protein Misfolding Cyclic Amplification, Female, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Myoclonus, Human, RC321-571
Abstract

13 Pág. Centro de Investigación en Sanidad Animal (CISA), More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date., This work was funded by the Instituto de Salud Carlos III (grant no. PI20/00448 to RSV), Spanish Ministerio de Ciencia e Innovación (grant no. PDI2019-105837RB-I00 to J.M.T. and J.C.E., and RTI2018-098515-B-I00 to J.C.), Fundació La Marató de TV3 (grant no. 201821-31 to J.C.E.), Instituto Nacional de Investigación y Tecnología Agraria y Agroalimentaria (fellowship INIA-FPI-SGIT-2015-02 to A.M.M.) and Dr Baselga funds for CJD research. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Published
2021

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