Journal
JOURNAL OF BIOLOGICAL CHEMISTRY
Volume 294, Issue 14, Pages 5386-5395Publisher
AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
DOI: 10.1074/jbc.R117.809194
Keywords
genetic disease; genomics; mitochondria; mitochondrial disease; respiratory chain; OXPHOS
Categories
Funding
- Australian National Health and Medical Research Council [GNT1022896, GNT1068409, GNT1107094]
- Victorian Government's Operational Infrastructure Support Program
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Inherited disorders of oxidative phosphorylation cause the clinically and genetically heterogeneous diseases known as mitochondrial energy generation disorders, or mitochondrial diseases. Over the last three decades, mutations causing these disorders have been identified in almost 290 genes, but many patients still remain without a molecular diagnosis. Moreover, while our knowledge of the genetic causes is continually expanding, our understanding into how these defects lead to cellular dysfunction and organ pathology is still incomplete. Here, we review recent developments in disease gene discovery, functional characterization, and shared pathogenic parameters influencing disease pathology that offer promising avenues toward the development of effective therapies.
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