Výsledky vyhledávání - "Arantxa Bolinches-Amorós"

Akademický článek

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

Autor: Candela Machuca, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amorós, Ana Artero Castro, Carmen Espinos, Marian Leon, Pavla Jendelova, Slaven Erceg

Publikováno v: Stem Cell Research, Vol 33, Iss , Pp 166-170 (2018)

The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 repr

Externí odkaz: https://doaj.org/article/6099d90be0f440dab9874731f3220b0f

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Akademický článek

Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells

Autor: Ángeles Arzalluz-Luque, Jose Luis Cabrera, Heli Skottman, Alberto Benguria, Arantxa Bolinches-Amorós, Nicolás Cuenca, Vincenzo Lupo, Ana Dopazo, Sonia Tarazona, Bárbara Delás, Miguel Carballo, Beatriz Pascual, Imma Hernan, Slaven Erceg, Dunja Lukovic

Publikováno v: Frontiers in Neuroscience, Vol 15 (2021)

Retinitis pigmentosa (RP) is a rare, progressive disease that affects photoreceptors and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Despite high medical and social impact, there is currently no therapeutic options to sl

Externí odkaz: https://doaj.org/article/347373adf3fd4a898beb0087c33bbc18

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Akademický článek

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene

Autor: Candela Machuca Arellano, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amorós, Ana Artero Castro, Carmen Espinos, Marian Leon Rodriguez, Pavla Jendelova, Slaven Erceg

Publikováno v: Stem Cell Research, Vol 31, Iss , Pp 249-252 (2018)

The human iPSC cell line, ARS-FiPS4F1 (ESi063-A), derived from dermal fibroblast from the patient autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations on the gene SACSIN, was generated by non-integrative reprogrammin

Externí odkaz: https://doaj.org/article/0e4c7322f2a443f193c4de107a9fca4b

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Akademický článek

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

Autor: Arantxa Bolinches-Amorós, Dunja Lukovic, Ana Artero Castro, Marian León, Kunka Kamenarova, Radka Kaneva, Pavla Jendelova, Fiona Blanco-Kelly, Carmen Ayuso, Marta Cortón, Slaven Erceg

Publikováno v: Stem Cell Research, Vol 28, Iss , Pp 96-99 (2018)

The human iPSC cell line, GLC-FiPS4F1 (ESi047-A), derived from dermal fibroblast from the patient with congenital glaucoma caused by the mutation of the gene CYP1B1, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC a

Externí odkaz: https://doaj.org/article/01f270337c324567810fb2c2a6dca75a

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Akademický článek

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

Autor: Arantxa Bolinches-Amorós, Marian León, Verónica del Buey Furió, Gemma Marfany, Roser Gonzàlez-Duarte, Slaven Erceg, Dunja Lukovic

Publikováno v: Stem Cell Research, Vol 38, Iss , Pp - (2019)

Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The gener

Externí odkaz: https://doaj.org/article/007177dfa7d9420e83e8249eeaa7ae0e

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Akademický článek

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia

Autor: Belén Mollá, Fátima Riveiro, Arantxa Bolinches-Amorós, Diana C. Muñoz-Lasso, Francesc Palau, Pilar González-Cabo

Publikováno v: Disease Models & Mechanisms, Vol 9, Iss 6, Pp 647-657 (2016)

Frataxin (FXN) deficiency causes Friedreich’s ataxia (FRDA), a multisystem disorder with neurological and non-neurological symptoms. FRDA pathophysiology combines developmental and degenerative processes of dorsal root ganglia (DRG), sensory nerves

Externí odkaz: https://doaj.org/article/e0d820fe447041b4905503918978bc04

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Akademický článek

Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice

Autor: Belén Mollá, Diana C. Muñoz-Lasso, Fátima Riveiro, Arantxa Bolinches-Amorós, Federico V. Pallardó, Angel Fernandez-Vilata, María de la Iglesia-Vaya, Francesc Palau, Pilar Gonzalez-Cabo

Publikováno v: Frontiers in Molecular Neuroscience, Vol 10 (2017)

Friedreich’s ataxia (FRDA) is a peripheral neuropathy involving a loss of proprioceptive sensory neurons. Studies of biopsies from patients suggest that axonal dysfunction precedes the death of proprioceptive neurons in a dying-back process. We obs

Externí odkaz: https://doaj.org/article/3192ccb3674a4addb0e6c70b122d19d0

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Akademický článek

Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.

Autor: José Luis García-Giménez, Amparo Gimeno, Pilar Gonzalez-Cabo, Francisco Dasí, Arantxa Bolinches-Amorós, Belén Mollá, Francesc Palau, Federico V Pallardó

Publikováno v: PLoS ONE, Vol 6, Iss 6, p e20666 (2011)

Friedreich's ataxia (FRDA) is a mitochondrial rare disease, which molecular origin is associated with defect in the expression of frataxin. The pathological consequences are degeneration of nervous system structures and cardiomyopathy with necrosis a

Externí odkaz: https://doaj.org/article/cec09878c0b8467aa7a52d654f61039b

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A Semiautomated, Phenotypic, In Vitro Scratch Assay for Assessing Retinal Pigment Epithelial Cell Wound Healing

Autor: Alun R. Barnard, Robert E MacLaren, Ross Campbell, Angela J. Russell, Stephen G. Davies, Tina Storm, Iain Wilson, Arantxa Bolinches-Amorós

Publikováno v: Journal of Ocular Pharmacology and Therapeutics. 36:257-266

Purpose: Age-related macular degeneration leads to retinal pigment epithelium (RPE) cell death and loss of central vision. In vivo studies have shown that the RPE layer has an innate, but limited, ability to repopulate atrophic areas. We aimed to est

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::05fe0b1c7641d9e218155089d5a110e4
https://doi.org/10.1089/jop.2019.0116

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