Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
By J. N. Spelbrink, Fang-Yuan Li, V. Tiranti, K. Nikali, Q. Yuan, M. Tariq, Sjoerd Wanrooij, Nuria Garrido, G. Comi, L. Morandi and 11 more. Nature Genetics, 2001
886 citations recorded by the source corpus.
Subfields: Clinical Biochemistry, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/90451511211631c37451dcf77a63a82d301e429f
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In Clinical Biochemistry
In Molecular Biology
- Douglas C. Wallace
- Vincent Procaccio
- W. Fan
- M. Palacín
- Antonio Zorzano
- M. Liesa
- M. Beal
- R. Scarpulla
Citations in the corpus
- Mitochondrial Energetics and Therapeutics (2010, positive): “F or p er so na l u se o nl y. Table 1 Examples of nuclear DNA mutations that cause mitochondrial diseasesa Gene name Function Chromosome Inheritance Clinical phenotype Reference(s) NDUFS8 Complex I 11q13 AR Leigh syndrome 73 SURF1 Complex IV assembly 9q34 AR Leigh syndrome 74 C10ORF2 (PEOA3) Twinkl”
- Mitochondrial dynamics in mammalian health and disease. (2009, background): “The specific colocalization of Twinkle with mtDNA in punctate intramitochondrial structures demonstrates the presence of discrete mitochondrial DNA-protein complexes in human mitochondria, similarly to yeast (279).”