Associated Papers
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
Autoregulation of the real-time kinetics of the human mitochondrial replicative helicase.
Plaza-G A I et al.
Nature Communications, 2025
40592829 (PubMed )
Supplement: 41467_2025_60289_MOESM1_ESM.pdf
Structural insight and characterization of human Twinkle helicase in mitochondrial disease.
Riccio AA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.
Peter B et al.
Genes, 2020
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K et al.
Bmc Medical Genetics, 2020
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Peter B et al.
Human Molecular Genetics, 2019
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H et al.
Neurology, 2014
Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.
Sanchez-Martinez A et al.
Plos One, 2012
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
Longley MJ et al.
The Journal of Biological Chemistry, 2010
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
Van Hove JL et al.
American Journal of Medical Genetics. Part A, 2009
Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia.
Holmlund T et al.
Biochimica Et Biophysica Acta, 2009
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
Goffart S et al.
Human Molecular Genetics, 2009
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R et al.
Journal of Neurology, 2008
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Spelbrink JN et al.
Nature Genetics, 2001
Select a paper to view details