Arantxa Amoros-Bolinches

Valencia, VC, Spain

Last Updated: 09/26/2026

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Found 9 publications

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

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

Journal: Frontiers in neuroscience

Published: December 02, 2020

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

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

Journal: Stem cell research

Published: March 10, 2019

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

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

Journal: Stem cell research

Published: July 19, 2018

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

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

Journal: Stem cell research

Published: July 05, 2018

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

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

Journal: Stem cell research

Published: July 05, 2017

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

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

Journal: Frontiers in molecular neuroscience

Published: May 12, 2017

Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.

Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.

Journal: Stem cell research

Published: December 21, 2016

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

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

Journal: Disease models & mechanisms

Published: December 02, 2015

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.

Journal: Frontiers in cellular neuroscience

Published: January 31, 2014

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Last Updated: 09/26/2026