Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

• Main Authors: Nuria Bujan (Author), Constanza Morén (Author), Francesc J. García-García (Author), Alberto Blázquez (Author), Clara Carnicer (Author), Ana Belén Cortés (Author), Cristina González (Author), Ester López-Gallardo (Author), Ester Lozano (Author), Sonia Moliner (Author), Laura Gort (Author), Ester Tobías (Author), Aitor Delmiro (Author), Miguel Ángel Martin (Author), Miguel Ángel Fernández-Moreno (Author), Eduardo Ruiz-Pesini (Author), Elena Garcia-Arumí (Author), Juan Carlos Rodríguez-Aguilera (Author), Glòria Garrabou (Author)
• Format: Book
• Published: MDPI AG, 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The quantification of mitochondrial respiratory chain (MRC) enzymatic activities is essential for diagnosis of a wide range of mitochondrial diseases, ranging from inherited defects to secondary dysfunctions. MRC lesion is frequently linked to extended cell damage through the generation of proton le...