Molecular genetics and metabolismHumansAdenosine TriphosphateFibroblastsDNAMitochondrial
Clinical utility of the ATP hydrolysis assay for the diagnosis of complex V deficiency in cultured skin fibroblasts.
Marisa W Friederich, Johan L K Van Hove
Published: 202510.1016/j.ymgme.2025.109257
Abstract
Complex V catalyzes the formation of ATP from ADP and Pi through the dissipation of the proton gradient generated during the process of oxidative phosphorylation. Most complex V genetic disorders are caused by missense mutations in the mtDNA-encoded…
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