Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies
Joint Authors
Smeitink, Jan
van den Heuvel, Lambert
Smits, Paulien
Source
Issue
Vol. 2010, Issue 2010 (31 Dec. 2009), pp.1-24, 24 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-04-13
Country of Publication
Egypt
No. of Pages
24
Main Subjects
Abstract EN
Mitochondrial disorders are a heterogeneous group of often multisystemic and early fatal diseases, which are amongst the most common inherited human diseases.
These disorders are caused by defects in the oxidative phosphorylation (OXPHOS) system, which comprises five multisubunit enzyme complexes encoded by both the nuclear and the mitochondrial genomes.
Due to the multitude of proteins and intricacy of the processes required for a properly functioning OXPHOS system, identifying the genetic defect that underlies an OXPHOS deficiency is not an easy task, especially in the case of combined OXPHOS defects.
In the present communication we give an extensive overview of the proteins and processes (in)directly involved in mitochondrial translation and the biogenesis of the OXPHOS system and their roles in combined OXPHOS deficiencies.
This knowledge is important for further research into the genetic causes, with the ultimate goal to effectively prevent and cure these complex and often devastating disorders.
American Psychological Association (APA)
Smits, Paulien& Smeitink, Jan& van den Heuvel, Lambert. 2010. Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies. BioMed Research International،Vol. 2010, no. 2010, pp.1-24.
https://search.emarefa.net/detail/BIM-989099
Modern Language Association (MLA)
Smits, Paulien…[et al.]. Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies. BioMed Research International No. 2010 (Dec. 2010), pp.1-24.
https://search.emarefa.net/detail/BIM-989099
American Medical Association (AMA)
Smits, Paulien& Smeitink, Jan& van den Heuvel, Lambert. Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies. BioMed Research International. 2010. Vol. 2010, no. 2010, pp.1-24.
https://search.emarefa.net/detail/BIM-989099
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-989099