Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models.
Huang, Christopher L-H
Front Cardiovasc Med
Frontiers Media SA
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Wang, J., Huang, C. L., & Zhang, Y. (2022). Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models.. Front Cardiovasc Med, 9 https://doi.org/10.3389/fcvm.2022.843853
Complement C1q binding protein (C1QBP, p32) is primarily localized in mitochondrial matrix and associated with mitochondrial oxidative phosphorylative function. C1QBP deficiency presents as a mitochondrial disorder involving multiple organ systems. Recently, disease associated C1QBP mutations have been identified in patients with a combined oxidative phosphorylation deficiency taking an autosomal recessive inherited pattern. The clinical spectrum ranges from intrauterine growth restriction to childhood (cardio) myopathy and late-onset progressive external ophthalmoplegia. This review summarizes the physiological functions of C1QBP, its mutation-associated mitochondrial cardiomyopathy shown in the reported available patients and current experimental disease platforms modeling these conditions.
Cardiovascular Medicine, C1QPB, mutation, combined oxidative phosphorylation deficiency, mitochondrial cardiomyopathies, physiological functions, disease models
External DOI: https://doi.org/10.3389/fcvm.2022.843853
This record's URL: https://www.repository.cam.ac.uk/handle/1810/335088