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
Retromer promotes the lysosomal turnover of mtDNA.
Kakanj P et al.
Science Advances, 2025
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Vincent AE et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing.
Basu S et al.
Plos Genetics, 2020
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K et al.
Bmc Medical Genetics, 2020
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D et al.
Nucleic Acids Research, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
Hanisch F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging.
Baris OR et al.
Cell Metabolism, 2015
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H et al.
Neurology, 2014
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
A novel variation in the Twinkle linker region causing late-onset dementia.
Echaniz-Laguna A et al.
Neurogenetics, 2010
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
McHugh JC et al.
Muscle & Nerve, 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
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
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Hakonen AH et al.
Brain : a Journal of Neurology, 2007
SANDO: two novel mutations in POLG1 gene.
Gago MF et al.
Neuromuscular Disorders : Nmd, 2006