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

by Belén Mollá, Fátima Riveiro, Arantxa Bolinches-Amorós, Diana C. Muñoz-Lasso, Francesc Palau, Pilar González-Cabo
Published 2016-06-01

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

by Arantxa Bolinches-Amorós, Marian León, Verónica del Buey Furió, Gemma Marfany, Roser Gonzàlez-Duarte, Slaven Erceg, Dunja Lukovic
Published 2019-07-01

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

by José Luis García-Giménez, Amparo Gimeno, Pilar Gonzalez-Cabo, Francisco Dasí, Arantxa Bolinches-Amorós, Belén Mollá, Francesc Palau, Federico V Pallardó
Published 2011-01-01

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

by Ángeles Arzalluz-Luque, Jose Luis Cabrera, Heli Skottman, Alberto Benguria, Arantxa Bolinches-Amorós, Arantxa Bolinches-Amorós, Nicolás Cuenca, Vincenzo Lupo, Vincenzo Lupo, Ana Dopazo, Sonia Tarazona, Bárbara Delás, Miguel Carballo, Beatriz Pascual, Imma Hernan, Slaven Erceg, Slaven Erceg, Slaven Erceg, Slaven Erceg, Dunja Lukovic, Dunja Lukovic
Published 2021-04-01

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

by Candela Machuca, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amorós, Ana Artero Castro, Carmen Espinos, Marian Leon, Pavla Jendelova, Slaven Erceg
Published 2018-12-01

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

by 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
Published 2018-04-01

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

by 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
Published 2018-08-01

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

by Belén Mollá, Belén Mollá, Diana C. Muñoz-Lasso, Diana C. Muñoz-Lasso, Diana C. Muñoz-Lasso, Diana C. Muñoz-Lasso, Fátima Riveiro, Fátima Riveiro, Arantxa Bolinches-Amorós, Arantxa Bolinches-Amorós, Federico V. Pallardó, Federico V. Pallardó, Federico V. Pallardó, Angel Fernandez-Vilata, María de la Iglesia-Vaya, María de la Iglesia-Vaya, María de la Iglesia-Vaya, Francesc Palau, Francesc Palau, Francesc Palau, Pilar Gonzalez-Cabo, Pilar Gonzalez-Cabo, Pilar Gonzalez-Cabo
Published 2017-08-01