| The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF. | The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF.
Jessulat M, Amin S, Hooshyar M, Malty R, Moutaoufik MT, Zilocchi M, Istace Z, Phanse S, Aoki H, Omidi K, Burnside D, Samanfar B, Aly KA, Golshani A, Babu M., Free PMC Article | 10/9/2021 |
| Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. | Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
Au LWC, Lee HHC, Sheng B, Chan KY, Yau EKC, Mak CM, Chan AYW, Chan AYY, Lau CKY, Mok VCT, Lam CW. | 08/14/2021 |
| Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia. | Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia.
Zhu B, Wu J, Chen G, Chen L, Yao Y. | 05/29/2021 |
| TPK1 as a predictive marker for the anti-tumour effects of simvastatin in gastric cancer. | TPK1 as a predictive marker for the anti-tumour effects of simvastatin in gastric cancer.
Hong JY, Kim HJ, Kim K, Hong J, Kim JE, Byeon SJ, Lee IK, Kim KM, Shim M, Park SH, Park JO, Park YS, Lim HY, Kim ST, Lee J, Kang WK. | 11/21/2020 |
| any disease mutants are directly or indirectly involved in thiamine binding. Thus, our study provided a novel rationale for thiamine supplementation, so far the major therapeutic intervention in TPK deficiency. | Reduced thiamine binding is a novel mechanism for TPK deficiency disorder.
Huang W, Qin J, Liu D, Wang Y, Shen X, Yang N, Zhou H, Cai XT, Wang ZL, Yu D, Luo R, Sun Q, Xie YM, Jia D. | 03/30/2019 |
| These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines. | Up-regulation of vitamin B1 homeostasis genes in breast cancer.
Zastre JA, Hanberry BS, Sweet RL, McGinnis AC, Venuti KR, Bartlett MG, Govindarajan R. | 03/8/2014 |
| Mutation analysis of TPK1 uncovered three missense, one splice-site, and one frameshift mutation resulting in decreased TPK protein levels | Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W., Free PMC Article | 02/4/2012 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight.
Fradin D, Bougneres P, Fradin D, Bougneres P. | 03/13/2008 |
| Genomic variations in either the fetal or maternal TPK1 gene could contribute to variability of birth weight in normal humans. | Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight.
Fradin D, Bougneres P, Fradin D, Bougneres P. | 01/21/2010 |
| findings indicate the importance of the Sp1 transcription factor cis-element in regulating the human thiamin pyrophosphokinase gene (hTPK1) gene expression | Molecular cloning and analysis of the 5'-flanking region of the human thiamin pyrophosphokinase gene.
Onozuka M, Konno H, Akaji K, Nishino H, Nosaka K. | 01/21/2010 |
| This is the first report on the primary sequence for mammalian thiamin pyrophosphokinase, a protein that catalyzes the pyrophosphorylation of thiamin with adenosine 5'-triphosphate to form thiamin pyrophosphate. | Molecular cloning and expression of a mouse thiamin pyrophosphokinase cDNA.
Nosaka K, Onozuka M, Nishino H, Nishimura H, Kawasaki Y, Ueyama H. | 06/29/2006 |