Associated Papers
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
Martín-Jimenez P et al.
Journal of Inherited Metabolic Disease, 2026
Doxecitine and doxribtimine treatment in an adult patient with thymidine kinase 2 deficiency.
Chow E et al.
Molecular Genetics and Metabolism, 2025
Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.
Li D et al.
Orphanet Journal of Rare Diseases, 2025
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.
Moreno CAM et al.
Scientific Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C et al.
International Journal of Molecular Sciences, 2022
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Domínguez-González C et al.
Neuromuscular Disorders : Nmd, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
Berardo A et al.
Journal of Neuromuscular Diseases, 2022
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C et al.
Annals of Neurology, 2019
Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.
Blázquez-Bermejo C et al.
Ebiomedicine, 2019
[TK2 mutations and late onset myopathy: first description in a Mexican patient].
Castro-Macias JI et al.
Revista De Neurologia, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J et al.
Molecular Genetics and Metabolism, 2018
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.
Siegmund SE et al.
Human Molecular Genetics, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.
Knierim E et al.
Mitochondrion, 2015
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R et al.
Biochemistry, 2014
Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.
Villarroya J et al.
Biochemical and Biophysical Research Communications, 2011
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.
Dorado B et al.
Human Molecular Genetics, 2011
Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in mice.
Villarroya J et al.
Plos One, 2011
Clinical and molecular features of mitochondrial DNA depletion syndromes.
Spinazzola A et al.
Journal of Inherited Metabolic Disease, 2009
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.
Akman HO et al.
Human Molecular Genetics, 2008
Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy.
Kohler JJ et al.
Cardiovascular Toxicology, 2008
Deoxyribonucleoside kinases in mitochondrial DNA depletion.
Saada-Reisch A
Nucleosides, Nucleotides & Nucleic Acids, 2004
Effect of valine 106 on structure-function relation of cytosolic human thymidine kinase. Kinetic properties and oligomerization pattern of nine substitution mutants of V106.
Frederiksen H et al.
European Journal of Biochemistry, 2004
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.
Wang L et al.
The Journal of Biological Chemistry, 2003
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S et al.
Molecular Genetics and Metabolism, 0