Role of adenine nucleotide translocator 1 in mtDNA maintenance.
By J. Kaukonen, Jukka K. Juselius, V. Tiranti, A. Kyttälä, M. Zeviani, G. Comi, S. Keränen, L. Peltonen, A. Suomalainen. Science, 2000
645 citations recorded by the source corpus.
Subfields: Molecular Biology
View Paper: https://www.semanticscholar.org/paper/d47887ba5cd0c6eda0f11b06ec36c2d65dd56ce9
How researchers see this paper
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In Molecular Biology
- Guido Kroemer
- M. Zeviani
- A. Suomalainen
- F. Palmieri
- V. Tiranti
- J. Smeitink
- L. Galluzzi
- Douglas R. Green
Citations in the corpus
- Mitochondrial dysfunction as a cause of optic neuropathies. (2004, background): “Mutations in the human ANT1 gene are associated with autosomal dominant progressive external ophthalmoplegia (adPEO) and mtDNA multiple deletions (Kaukonen et al., 2000).”
- Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside (2003, background): “Severe diseases such as mitochondrial myopathies or ophthalmoplegia have been associated with dysfunctioning of the human ADP/ATP carrie”
- Mitochondrial DNA mutations and human disease. (2010, neutral): “, SLC25A4) [88–90].”
- Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (2001, background): “The 4q-linked adPEO gene was recently identified as ANT1 , which encodes the heart-muscle-brain isoform of the adenine nucleotide translocato”
- The mitochondrial transporter family (SLC25): physiological and pathological implications (2004, background): “More recently, mutations in the SLC25A4 gene coding AAC1 have been found in various families or in sporadic cases presenting autosomal dominant progressive external ophthalmoplegia (adPEO) (OMIM 157640) [ 42 , 43].”
- The genetics and pathology of oxidative phosphorylation (2001, background): “Kaukonen et al.74 identified two heterozygous missense mutations in this gene in several families and in one sporadic patient with adPEO.”
- The mitochondrion in apoptosis: how Pandora's box opens (2001, background): “Interestingly, a substitution in the highly conserved alanine residue 114 in ANT1 causes a dominant human mitochondriopath”