Associated Papers
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.
Tufatulin GS et al.
The Journal of International Advanced Otology, 2025
Mitochondrial diseases: from molecular mechanisms to therapeutic advances.
Wen H et al.
Signal Transduction and Targeted Therapy, 2025
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
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
Mitochondrial DNA replication and repair defects: Clinical phenotypes and therapeutic interventions.
Roy A et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
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
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M et al.
Journal of Translational Medicine, 2019
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
Li X et al.
Bmc Medical Genetics, 2019
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Peter B et al.
Human Molecular Genetics, 2019
Natural history of mitochondrial disorders: a systematic review.
Keshavan N et al.
Essays in Biochemistry, 2018
Mitochondrial disease and endocrine dysfunction.
Chow J et al.
Nature Reviews. Endocrinology, 2017
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
Pierce SB et al.
Cold Spring Harbor Molecular Case Studies, 2016
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.
Nikkanen J et al.
Cell Metabolism, 2016
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H et al.
Neurology, 2014
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
Faruq M et al.
Clinical Genetics, 2014
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Park MH et al.
Neurogenetics, 2014
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
Ji K et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014
Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.
Goh V et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.
Hartley JN et al.
Case Reports in Pediatrics, 2012
Autosomal recessive cerebellar ataxias: the current state of affairs.
Vermeer S et al.
Journal of Medical Genetics, 2011
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Infantile mitochondrial encephalopathy.
Uziel G et al.
Seminars in Fetal & Neonatal Medicine, 2011
[Clinical details and genetics of recessive ataxias].
Zühlke C et al.
Der Nervenarzt, 2011
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
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C et al.
Neurology, 2010
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
Hong D et al.
Muscle & Nerve, 2010
Genetic causes of mitochondrial DNA depletion in humans.
Rötig A et al.
Biochimica Et Biophysica Acta, 2009
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Recessive twinkle mutations cause severe epileptic encephalopathy.
Lönnqvist T et al.
Brain : a Journal of Neurology, 2009
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
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Hakonen AH et al.
Human Molecular Genetics, 2008
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R et al.
Journal of Neurology, 2008
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Sarzi E et al.
Annals of Neurology, 2007
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Hakonen AH et al.
Brain : a Journal of Neurology, 2007
Investigation of recessive ataxia loci in patients with young age of onset.
Zühlke C et al.
Neuropediatrics, 2007
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Nikali K et al.
Human Molecular Genetics, 2005