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Page 1
Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.
Lopez-Gomez C, Sanchez-Quintero MJ, Lee EJ, Kleiner G, Tadesse S, Xie J, Akman HO, Gao G, Hirano M. Lopez-Gomez C, et al. Ann Neurol. 2021 Oct;90(4):640-652. doi: 10.1002/ana.26185. Epub 2021 Aug 13. Ann Neurol. 2021. PMID: 34338329 Free PMC article.
OBJECTIVE: Autosomal recessive human thymidine kinase 2 (TK2) mutations cause TK2 deficiency, which typically manifests as a progressive and fatal mitochondrial myopathy in infants and children. ...AAV-TK2 treated mice were further treate …
OBJECTIVE: Autosomal recessive human thymidine kinase 2 (TK2) mutations cause TK2 deficiency, which typic …
Spinocerebellar ataxia type 31 (SCA31).
Ishikawa K. Ishikawa K. J Hum Genet. 2023 Mar;68(3):153-156. doi: 10.1038/s10038-022-01091-4. Epub 2022 Nov 1. J Hum Genet. 2023. PMID: 36319738 Free PMC article. Review.
From the genomic point of view, the complex penta-nucleotide repeat lies in an intronic segment shared by two genes, BEAN1 (brain expressed, associated with Nedd4) and TK2 (thymidine kinase 2) transcribed in mutually opposite directions. While TK2 …
From the genomic point of view, the complex penta-nucleotide repeat lies in an intronic segment shared by two genes, BEAN1 (brain expressed, …
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Rodríguez-López C, García-Cárdaba LM, Blázquez A, Serrano-Lorenzo P, Gutiérrez-Gutiérrez G, San Millán-Tejado B, Muelas N, Hernández-Laín A, Vílchez JJ, Gutiérrez-Rivas E, Arenas J, Martín MA, Domínguez-González C. Rodríguez-López C, et al. J Med Genet. 2020 Sep;57(9):643-646. doi: 10.1136/jmedgenet-2019-106649. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161153
Single large-scale mitochondrial DNA (mtDNA) deletion was the most frequent finding (63%), followed by multiple mtDNA deletions (26%) due to mutations in TWNK (n=8), POLG (n=7), TK2 (n=6) or RRM2B (n=2) genes, and point mtDNA mutations (7%). ...
Single large-scale mitochondrial DNA (mtDNA) deletion was the most frequent finding (63%), followed by multiple mtDNA deletions (26%) due to …
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency.
Lopez-Gomez C, Hewan H, Sierra C, Akman HO, Sanchez-Quintero MJ, Juanola-Falgarona M, Tadesse S, Tanji K, Konofagou EE, Hirano M. Lopez-Gomez C, et al. EBioMedicine. 2019 Aug;46:356-367. doi: 10.1016/j.ebiom.2019.07.037. Epub 2019 Aug 2. EBioMedicine. 2019. PMID: 31383553 Free PMC article.
BACKGROUND: TK2 is a nuclear gene encoding the mitochondrial matrix protein thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial nucleotide salvage pathway. ...We previously showed that oral treatment of the Tk2 H126N knock-in …
BACKGROUND: TK2 is a nuclear gene encoding the mitochondrial matrix protein thymidine kinase 2 (TK2), a c …
Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31).
Ishikawa K, Nagai Y. Ishikawa K, et al. Neurotherapeutics. 2019 Oct;16(4):1106-1114. doi: 10.1007/s13311-019-00804-6. Neurotherapeutics. 2019. PMID: 31755042 Free PMC article. Review.
By comparing various pentanucleotide repeats in this particular locus among control Japanese and Caucasian populations, it was found that (TGGAA)(n) was the only sequence segregating with SCA31, strongly suggesting the pathogenicity of (TGGAA)(n). The complex repeat also lies in …
By comparing various pentanucleotide repeats in this particular locus among control Japanese and Caucasian populations, it was found that (T …
Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants.
AlMenabawy N, Hassaan HM, Ramadan M, Ehsan Abdel Meguid I, Ahmed El Gindy H, Beetz C, Selim L. AlMenabawy N, et al. Mitochondrion. 2022 Jul;65:139-144. doi: 10.1016/j.mito.2022.06.004. Epub 2022 Jun 22. Mitochondrion. 2022. PMID: 35750291
One patient was identified in the myopathic form presenting with myopathy associated with two novel variants in the TK2 gene. One patient was diagnosed with encephalomyopathic form presenting with persistent lactic acidosis and global delay due to a homozygous variant in t …
One patient was identified in the myopathic form presenting with myopathy associated with two novel variants in the TK2 gene. One pat …
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
Laine-Menéndez S, Domínguez-González C, Blázquez A, Delmiro A, García-Consuegra I, Fernández-de la Torre M, Hernández-Laín A, Sayas J, Martín MÁ, Morán M. Laine-Menéndez S, et al. Int J Mol Sci. 2021 May 25;22(11):5598. doi: 10.3390/ijms22115598. Int J Mol Sci. 2021. PMID: 34070501 Free PMC article.
Our goal was to analyze postmortem tissues of an adult patient with late-onset thymidine kinase 2 (TK2) deficiency who died of respiratory failure. ...Strong overexpression of TK1 was observed in all tissues of the patient with diaphragm showing the hi …
Our goal was to analyze postmortem tissues of an adult patient with late-onset thymidine kinase 2 (TK2) deficien …
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.
Hu C, Li X, Zhao L, Shi Y, Zhou S, Wu B, Wang Y. Hu C, et al. Eur J Med Genet. 2020 Aug;63(8):103898. doi: 10.1016/j.ejmg.2020.103898. Epub 2020 Apr 26. Eur J Med Genet. 2020. PMID: 32348839
Higher rates of TK2, POLG, IBA57, and HADHB mutations were found in nDNA-mutated MD compared with the remaining individuals. Besides, IBA57 c.286T > C (p.Y96H), TK2 c.497A > T (p.D166V) founder mutations critically contributed to MDs. ...
Higher rates of TK2, POLG, IBA57, and HADHB mutations were found in nDNA-mutated MD compared with the remaining individuals. Besides, …
Multiple tachykinins and their receptors characterized in the gastropod mollusk Pacific abalone: Expression, signaling cascades, and potential role in regulating lipid metabolism.
Lee S, Kim MA, Park JM, Park K, Sohn YC. Lee S, et al. Front Endocrinol (Lausanne). 2022 Sep 12;13:994863. doi: 10.3389/fendo.2022.994863. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36187101 Free PMC article.
When abalone were starved for 3 weeks, Hdh-TK1 transcript levels, but not Hdh-TK2, were increased in the cerebral ganglia (CG), intestine, and hepatopancreas, contrasting with the decreased lipid content and transcript levels of sterol regulatory element-binding protein (S …
When abalone were starved for 3 weeks, Hdh-TK1 transcript levels, but not Hdh-TK2, were increased in the cerebral ganglia (CG), intes …
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.
Bychkov IO, Itkis YS, Tsygankova PG, Krylova TD, Mikhaylova SV, Klyushnikov SA, Pechatnikova NL, Degtyareva AV, Nikolaeva EA, Seliverstov YA, Kurbatov SA, Dadali EL, Rudenskaya GE, Illarioshkin SN, Zakharova EY. Bychkov IO, et al. Mitochondrion. 2021 Mar;57:205-212. doi: 10.1016/j.mito.2021.01.004. Epub 2021 Jan 21. Mitochondrion. 2021. PMID: 33486010
Mutations were identified in 10 mtDNA maintenance genes: POLG (n = 59), DGUOK (n = 14), TWNK (n = 14), TK2 (n = 8), MPV17 (n = 2), OPA3 (n = 1), FBXL4 (n = 1), RRM2B (n = 1), SUCLG1 (n = 1) and TYMP (n = 1). ...
Mutations were identified in 10 mtDNA maintenance genes: POLG (n = 59), DGUOK (n = 14), TWNK (n = 14), TK2 (n = 8), MPV17 (n = 2), OP …
18 results