Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Javier Díaz Nido"'
Autor:
Andrés Vicente-Acosta, Saúl Herranz-Martín, Maria Ruth Pazos, Jorge Galán-Cruz, Mario Amores, Frida Loria, Javier Díaz-Nido
Publikováno v:
Neurobiology of Disease, Vol 200, Iss , Pp 106631- (2024)
Friedreich ataxia is a hereditary neurodegenerative disorder resulting from reduced levels of the protein frataxin due to an expanded GAA repeat in the FXN gene. This deficiency causes progressive degeneration of specific neuronal populations in the
Externí odkaz:
https://doaj.org/article/af00037b7f3147fdb515e309396e9a52
Publikováno v:
Journal of Neuroinflammation, Vol 19, Iss 1, Pp 1-24 (2022)
Abstract Background Friedreich’s ataxia is a rare hereditary neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Similar to other neurodegenerative pathologies, previous studies suggested that astrocytes migh
Externí odkaz:
https://doaj.org/article/3dc8cc77d4234391936df6cbe844cd6b
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 491-496 (2020)
Herpes simplex virus 1 (HSV-1)-derived amplicon vectors are unique in their ability to accommodate large DNA molecules allowing whole genomic loci to be included with all of their regulatory elements. Additional advantages of these amplicons include
Externí odkaz:
https://doaj.org/article/70c9b953f39b4f7286c0659e81721a4b
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 1815 (2021)
Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the fr
Externí odkaz:
https://doaj.org/article/670d199b0a4c40419ef372937d2bf54f
Autor:
Mauro Agrò, Javier Díaz-Nido
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 21, p 8251 (2020)
Friedreich’s ataxia (FRDA) is a neurodegenerative disease caused by recessive mutations in the frataxin gene that lead to a deficiency of the mitochondrial frataxin (FXN) protein. Alternative forms of frataxin have been described, with different ce
Externí odkaz:
https://doaj.org/article/022904859cc04c6b97ae987197f5211f
Autor:
Sara Pérez-Luz, Frida Loria, Yurika Katsu-Jiménez, Daniel Oberdoerfer, Oscar-Li Yang, Filip Lim, José Luis Muñoz-Blanco, Javier Díaz-Nido
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 18, p 6662 (2020)
Friedreich’s ataxia is the most common hereditary ataxia for which there is no cure or approved treatment at present. However, therapeutic developments based on the understanding of pathological mechanisms underlying the disease have advanced consi
Externí odkaz:
https://doaj.org/article/0294cc51f13b428c80c8d65aabe08052
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 10, p 3410 (2020)
Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an abnormally expanded Guanine-Adenine-Adenine (GAA) repeat sequence within the first intron of the frataxin gene (FXN). The molecular mechanisms associated with FRDA are still
Externí odkaz:
https://doaj.org/article/8c294495edb34b7e8c8fabf58d01b2bf
Autor:
Frida Loría, Javier Díaz-Nido
Publikováno v:
Neurobiology of Disease, Vol 76, Iss , Pp 1-12 (2015)
Friedreich's ataxia (FA) is a recessive, predominantly neurodegenerative disorder caused in most cases by mutations in the first intron of the frataxin (FXN) gene. This mutation drives the expansion of a homozygous GAA repeat that results in decrease
Externí odkaz:
https://doaj.org/article/371c6bdbdab542ef98db32e384829fee
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 1815, p 1815 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 1815, p 1815 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed0713b84f4fdaaf931f8330c0752373
http://hdl.handle.net/10486/701710
http://hdl.handle.net/10486/701710
Publikováno v:
International Journal of Molecular Sciences
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
International Journal of Molecular Sciences, Vol 21, Iss 3410, p 3410 (2020)
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
International Journal of Molecular Sciences, Vol 21, Iss 3410, p 3410 (2020)
Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an abnormally expanded Guanine-Adenine-Adenine (GAA) repeat sequence within the first intron of the frataxin gene (FXN). The molecular mechanisms associated with FRDA are still
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f947824dba0fb396dab7ece7c485ad
http://europepmc.org/articles/PMC7279236
http://europepmc.org/articles/PMC7279236