Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment is supportive, thus the development of new models...

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Detalles Bibliográficos
Autores principales: Hernández-Ainsa, Carmen, López-Gallardo, Ester, García-Jiménez, María Concepción, Climent-Alcalá, Francisco José, Rodríguez-Vigil, Carmen, García Fernández de Villalta, Marta, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906170/
https://www.ncbi.nlm.nih.gov/pubmed/35191981
http://dx.doi.org/10.1242/dmm.049083

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906170/
https://www.ncbi.nlm.nih.gov/pubmed/35191981
http://dx.doi.org/10.1242/dmm.049083

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