Bibliographic Details
| Title: |
Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models |
| Authors: |
Jie Wang, Christopher L-H Huang, Yanmin Zhang |
| Source: |
Frontiers in Cardiovascular Medicine, Vol 9 (2022) |
| Publisher Information: |
Frontiers Media S.A., 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Diseases of the circulatory (Cardiovascular) system |
| Subject Terms: |
C1QPB, mutation, combined oxidative phosphorylation deficiency, mitochondrial cardiomyopathies, physiological functions, disease models, Diseases of the circulatory (Cardiovascular) system, RC666-701 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2297-055X |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fcvm.2022.843853/full; https://doaj.org/toc/2297-055X |
| DOI: |
10.3389/fcvm.2022.843853 |
| Access URL: |
https://doaj.org/article/e462d49badd34071b986dcc4039fe64a |
| Accession Number: |
edsdoj.462d49badd34071b986dcc4039fe64a |
| Database: |
Directory of Open Access Journals |
