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
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.
Peter B et al.
Genes, 2020
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
The human mitochondrial replication fork in health and disease.
Wanrooij S et al.
Biochimica Et Biophysica Acta, 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
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R et al.
Journal of Neurology, 2008
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Hakonen AH et al.
Brain : a Journal of Neurology, 2007
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
Hudson G et al.
Neurology, 2005
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