PhenomeGene — Human Disease Gene Website SeriesTWNK

Publications

Lopriore P et al. Clinical and Genotypical Spectrum of Twinkle-Related Disorders: Insight From a Multinational Cohort Study.Neurology. 2026 Feb 10;106(3):e214401. PMID: 41538773.

Spelbrink JN et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.Nat Genet. 2001 Jul;28(3):223-31. PMID: 114316.

Longley MJ et al. Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. J Biol Chem. 2010 Sep 24;285(39):29690-702. PMID: 2065989.

Riccio AA et al. Structural insight and characterization of human Twinkle helicase in mitochondrial disease.Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2207459119. PMID: 35914129.

Peter B, Falkenberg M. TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease. Genes (Basel). 2020 Apr 9;11(4):408. PMID: 32283748 .

Peter B et al. Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.Hum Mol Genet. 2019 Apr 1;28(7):1090-1099. PMID: 30496414.

Somai S et al. Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.Int J Mol Sci. 2025 Oct 22;26(21):10275. PMID: 41226312.