Phenotypic rescue of a Drosophila model of mitochondrial ANT1 disease

• Published in: Disease models & mechanisms Vol. 7; no. 6; pp. 635 - 648
• Main Authors: Vartiainen, Suvi, Chen, Shanjun, George, Jack, Tuomela, Tea, Luoto, Kaisa R, O'Dell, Kevin M C, Jacobs, Howard T
• Format: Journal Article
• Language: English
• Published: England The Company of Biologists Ltd 01.06.2014; The Company of Biologists Limited; The Company of Biologists
• Subjects: Adenine nucleotide translocase; Adenine Nucleotide Translocator 1 - genetics; Alternative oxidase; Amino Acid Sequence; Animals; Base Sequence; Biosynthesis; Cardiomyopathy; Convulsions & seizures; Defects; Disease; Disease Models, Animal; DNA; Drosophila - genetics; Female; Females; Genes; Genotype & phenotype; Insects; Kinases; Male; Metabolism; Mitochondria; Mitochondrial biogenesis; Mitochondrial disease; Mitochondrial Diseases - genetics; Mitochondrial DNA; Molecular Sequence Data; Mutation; Oxidative Phosphorylation; Pathology; Phenotype; Physiology; Point Mutation; Proteins; Alternative oxidase; Mitochondrial biogenesis; Mitochondrial disease; Adenine nucleotide translocase

A point mutation in the Drosophila gene that codes for the major adult isoform of adenine nuclear translocase (ANT) represents a model for human diseases that are associated with ANT insufficiency [stress-sensitive B(1) (sesB(1))]. We characterized the organismal, bioenergetic and molecular phenotyp...