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

• Main Authors: Carmen Hernández-Ainsa (Author), Ester López-Gallardo (Author), María Concepción García-Jiménez (Author), Francisco José Climent-Alcalá (Author), Carmen Rodríguez-Vigil (Author), Marta García Fernández de Villalta (Author), Rafael Artuch (Author), Julio Montoya (Author), Eduardo Ruiz-Pesini (Author), Sonia Emperador (Author)
• Format: Book
• Published: The Company of Biologists, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...