2026-04-30T03:51:01Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/110772025-06-17T09:01:55Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616
Repisalud
author
Perez-Luz, Sara
author
Loria, Frida
author
Katsu-Jiménez, Yurika
author
Oberdoerfer, Daniel
author
Yang, Oscar-Li
author
Lim, Filip
author
Muñoz-Blanco, José Luis
author
Díaz-Nido, Javier
funder
Association Française de l´Ataxie de Friedreich
funder
Fundación ATAXIA de Friedreich en movimiento
funder
Plan Nacional de I+D+i (España)
2020-09-28T19:25:33Z
2020-09-28T19:25:33Z
2020-09-11
Int J Mol Sci . 2020 Sep 11;21(18):E6662.
10.3390/ijms21186662
1422-0067
International journal of molecular sciences
32933002
http://hdl.handle.net/20.500.12105/11077
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 considerably, with the implementation of cellular models that mimic the disease playing a crucial role. Human olfactory ecto-mesenchymal stem cells represent a novel model that could prove useful due to their accessibility and neurogenic capacity. Here, we isolated and cultured these stem cells from Friedreich´s ataxia patients and healthy donors, characterizing their phenotype and describing disease-specific features such as reduced cell viability, impaired aconitase activity, increased ROS production and the release of cytokines involved in neuroinflammation. Importantly, we observed a positive effect on patient-derived cells, when frataxin levels were restored, confirming the utility of this in vitro model to study the disease. This model will improve our understanding of Friedreich´s ataxia pathogenesis and will help in developing rationally designed therapeutic strategies.
eng
Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich's Ataxia Patients
research article
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URL
https://repisalud.isciii.es/bitstreams/f1898b9d-b465-4303-81f2-6ffb94c123c6/download
File
MD5
21917c3dbd82fe369d43fbd294756af1
3697354
application/pdf
AlteredSecretomeAndROS_2020.pdf
URL
https://repisalud.isciii.es/bitstreams/4e481468-29c6-45d0-aa4a-428ebcf3da99/download
File
MD5
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text/plain
AlteredSecretomeAndROS_2020.pdf.txt