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

• मुख्य लेखकों: Carmen Hernández-Ainsa (लेखक), Ester López-Gallardo (लेखक), María Concepción García-Jiménez (लेखक), Francisco José Climent-Alcalá (लेखक), Carmen Rodríguez-Vigil (लेखक), Marta García Fernández de Villalta (लेखक), Rafael Artuch (लेखक), Julio Montoya (लेखक), Eduardo Ruiz-Pesini (लेखक), Sonia Emperador (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: The Company of Biologists, 2022-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...