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Defects in mitochondrial respiratory complexes III and IV, and human pathologiesстатья
Информация о цитировании статьи получена из
Scopus
Статья опубликована в журнале из списка Web of Science и/или Scopus
Дата последнего поиска статьи во внешних источниках: 28 мая 2015 г.
- Автор: Borisov V.B.
- Журнал: Molecular Aspects of Medicine
- Том: 23
- Номер: 5
- Год издания: 2002
- Издательство: Pergamon Press Ltd.
- Местоположение издательства: United Kingdom
- Первая страница: 385
- Последняя страница: 412
- DOI: 10.1016/S0098-2997(02)00013-4
- Аннотация: Here, relationships between alterations in tissue-specific content, protein structure, activity, and/or assembly of respiratory complexes III and IV induced by mutations in corresponding genes and various human pathologies are reviewed. Cytochrome bc(1) complex and cytochrome c oxidase (COX) deficiencies have been detected in a heterogeneous group of neuromuscular and non-neuromuscular diseases in childhood and adulthood, presenting a number of clinical phenotypes of variable severity. Such disorders can be caused by mutations located either in mitochondrial genes or in nuclear genes encoding structural subunits of the complexes or corresponding assembly factors/chaperones. Of the defects in mitochondrial DNA genes, mutations in cytochrome b subunit of complex III, and in structural subunits I-III of COX have been described to date. As to defects in nuclear DNA genes, mutations in genes encoding the complexes assembly factors such as the BCS1L protein for complex III; and SURF-1, SCO1, SCO2, and COX10 for complex IV have been identified so far.
- Добавил в систему: Борисов Виталий Борисович