Výsledky vyhledávání - "Ignasi Sahún"

Akademický článek

Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

Autor: Meritxell Espino Guarch, Mariona Font-Llitjós, Silvia Murillo-Cuesta, Ekaitz Errasti- Murugarren, Adelaida M Celaya, Giorgia Girotto, Dragana Vuckovic, Massimo Mezzavilla, Clara Vilches, Susanna Bodoy, Ignasi Sahún, Laura González, Esther Prat, Antonio Zorzano, Mara Dierssen, Isabel Varela-Nieto, Paolo Gasparini, Manuel Palacín, Virginia Nunes

Publikováno v: eLife, Vol 7 (2018)

Age-related hearing loss (ARHL) is the most common sensory deficit in the elderly. The disease has a multifactorial etiology with both environmental and genetic factors involved being largely unknown. SLC7A8/SLC3A2 heterodimer is a neutral amino acid

Externí odkaz: https://doaj.org/article/503c7861f97c46ce95ce9813d6079273

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Akademický článek

Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage

Autor: Benoit Souchet, Fayçal Guedj, Ignasi Sahún, Arnaud Duchon, Fabrice Daubigney, Anne Badel, Yuchio Yanagawa, Maria Jose Barallobre, Mara Dierssen, Eugene Yu, Yann Herault, Mariona Arbones, Nathalie Janel, Nicole Créau, Jean Maurice Delabar

Publikováno v: Neurobiology of Disease, Vol 69, Iss , Pp 65-75 (2014)

Cognitive deficits in Down syndrome (DS) have been linked to increased synaptic inhibition, leading to an imbalance of excitation/inhibition (E/I). Various mouse models and studies from human brains have implicated an HSA21 gene, the serine/threonine

Externí odkaz: https://doaj.org/article/38eb53d8da744590b164b4cc0d3230c4

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Akademický článek

Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: Implications for Down syndrome

Autor: François Mouton-Liger, Ignasi Sahún, Thibault Collin, Patricia Lopes Pereira, Debora Masini, Sophie Thomas, Evelyne Paly, Sabrina Luilier, Sandra Même, Quentin Jouhault, Soumia Bennaï, Jean-Claude Beloeil, Jean-Charles Bizot, Yann Hérault, Mara Dierssen, Nicole Créau

Publikováno v: Neurobiology of Disease, Vol 63, Iss , Pp 92-106 (2014)

PCP4/PEP19 is a modulator of Ca2+-CaM signaling. In the brain, it is expressed in a very specific pattern in postmitotic neurons. In particular, Pcp4 is highly expressed in the Purkinje cell, the sole output neuron of the cerebellum. PCP4, located on

Externí odkaz: https://doaj.org/article/95cef5a510e1441f9804b7f658e5a053

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Akademický článek

Transgenic mice overexpressing the full-length neurotrophin receptor TrkC exhibit increased catecholaminergic neuron density in specific brain areas and increased anxiety-like behavior and panic reaction

Autor: Mara Dierssen, Mònica Gratacòs, Ignasi Sahún, Miguel Martín, Xavier Gallego, Alejandro Amador-Arjona, María Martínez de Lagrán, Patricia Murtra, Eulalia Martí, Miguel A. Pujana, Isidre Ferrer, Esther Dalfó, Carmen Martínez-Cué, Jesús Flórez, Jesús F. Torres-Peraza, Jordi Alberch, Rafael Maldonado, Cristina Fillat, Xavier Estivill

Publikováno v: Neurobiology of Disease, Vol 24, Iss 2, Pp 403-418 (2006)

Accumulating evidence has suggested that neurotrophins participate in the pathophysiology of mood disorders. We have developed transgenic mice overexpressing the full-length neurotrophin-3 receptor TrkC (TgNTRK3) in the central nervous system. TgNTRK

Externí odkaz: https://doaj.org/article/642ec57b7ce0434fa7ac4913c2e04fd5

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Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome

Autor: Maria L. Arbonés, José J. Lucas, Susana de la Luna, Elisa Balducci, Marina P. Sánchez, Ignasi Sahún, Maria Jose Barallobre, Elena Rebollo, Ionas Erb, Alberto Parras, Sonia Najas, Gaetano Verde, Juan Arranz, Gentzane Sánchez-Elexpuru, Krisztina Arató, Isabel Pijuan

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Neurobiology of Disease, Vol 127, Iss, Pp 210-222 (2019)
Neurobiol Dis
Digital.CSIC. Repositorio Institucional del CSIC

Autism spectrum disorders are early onset neurodevelopmental disorders characterized by deficits in social communication and restricted repetitive behaviors, yet they are quite heterogeneous in terms of their genetic basis and phenotypic manifestatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1fd7d10c37028bef07f2b1159771a7
https://doi.org/10.1016/j.nbd.2019.02.022

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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

Autor: Mara Dierssen, Clara Vilches, Esther Prat, Dragana Vuckovic, Giorgia Girotto, Isabel Varela-Nieto, Ekaitz Errasti-Murugarren, Mariona Font-Llitjós, Adelaida M. Celaya, Silvia Murillo-Cuesta, Laura González, Massimo Mezzavilla, Paolo Gasparini, Virginia Nunes, Susanna Bodoy, Antonio Zorzano, Ignasi Sahún, Manuel Palacín, Meritxell Espino Guarch

Publikováno v: eLife, Vol 7 (2018)
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
eLife
Digital.CSIC. Repositorio Institucional del CSIC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce1adbfc9963f18a3e2eb477b2145ec7
https://elifesciences.org/articles/31511

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Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

Autor: Victoria Campuzano, Luis A. Pérez-Jurado, Cristina Borralleras, Ignasi Sahún

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. Haploinsufficiency at GTF2I has been shown to play a major role in the neurobehavioral phenotype. By characte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad49321b03bd28295544c9545a732b1
https://doi.org/10.1038/mt.2015.130

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A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

Autor: Stylianos E. Antonarakis, Samuel Deutsch, Mara Dierssen, Arnaud Duchon, Yann Herault, Patricia Lopes Pereira, Agnès Gruart, Bernadette Chadefaux-Vekemans, Jean-Charles Bizot, Paola Prandini, José M. Delgado-García, Véronique Brault, Laetitia Magnol, F. Trovero, Ignasi Sahún

Publikováno v: Human molecular genetics
Human Molecular Genetics, Vol. 18, No 24 (2009) pp. 4756-4769
Human Molecular Genetics

Mental retardation in Down syndrome (DS), the most frequent trisomy in humans, varies from moderate to severe. Several studies both in human and based on mouse models identified some regions of human chromosome 21 (Hsa21) as linked to cognitive defic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74592316ddf3829cc6a8f637a96d0feb
http://doc.rero.ch/record/301241/files/ddp438.pdf

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Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage

Autor: Eugene Yu, Yann Herault, Mara Dierssen, Jean-Maurice Delabar, Nathalie Janel, Fabrice Daubigney, Nicole Créau, M.L. Arbonés, Ignasi Sahún, Arnaud Duchon, Maria Jose Barallobre, Benoit Souchet, Faycal Guedj, Yuchio Yanagawa, Anne Badel

Publikováno v: Neurobiology of Disease, Vol 69, Iss, Pp 65-75 (2014)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681ffb848bf6678b4f5161ccb0eda282
https://doi.org/10.1016/j.nbd.2014.04.016

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