| Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1. | Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, Deheragoda M, Bull LN, Thompson RJ, University of Washington Center for Mendelian Genomics., Free PMC Article | 05/14/2022 |
| SLC1A5 co-expression with TALDO1 associates with endocrine therapy failure in estrogen receptor-positive breast cancer. | SLC1A5 co-expression with TALDO1 associates with endocrine therapy failure in estrogen receptor-positive breast cancer.
Alfarsi LH, El Ansari R, Craze ML, Mohammed OJ, Masisi BK, Ellis IO, Rakha EA, Green AR., Free PMC Article | 08/21/2021 |
| Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. | Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH., Free PMC Article | 07/3/2021 |
| these results pinpoint transaldolase as a novel metabolic enzyme possessing synthetic lethality with HER2 inhibition. | Synthetic lethality between HER2 and transaldolase in intrinsically resistant HER2-positive breast cancers.
Ding Y, Gong C, Huang D, Chen R, Sui P, Lin KH, Liang G, Yuan L, Xiang H, Chen J, Yin T, Alexander PB, Wang QF, Song EW, Li QJ, Wood KC, Wang XF., Free PMC Article | 01/5/2019 |
| These results demonstrate that the nucleocytoplasmic distribution of TALDO1, modulated via alternative translational initiation and dimer formation, plays an important role in a wide range of metabolic networks | Two isoforms of TALDO1 generated by alternative translational initiation show differential nucleocytoplasmic distribution to regulate the global metabolic network.
Moriyama T, Tanaka S, Nakayama Y, Fukumoto M, Tsujimura K, Yamada K, Bamba T, Yoneda Y, Fukusaki E, Oka M., Free PMC Article | 06/16/2018 |
| The above findings support the premise that biallelic mutations in TALDO1 are responsible for transaldolase deficiency and confirm the broad phenotypic variability of this condition, even with the same genotype. | Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F. | 02/27/2016 |
| This study expands the clinical definition of transaldolase deficiency, and adds to its allelic heterogeneity. | Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS. | 07/19/2014 |
| Data suggest that exchange reactions during gluconeogenesis catalyzed by transaldolase and triose-phosphate isomerase do not differ between subjects with type 2 diabetes and control subjects under fasting or hyperglycemic conditions. | Effects of transaldolase exchange on estimates of gluconeogenesis in type 2 diabetes.
Rajpal A, Dube S, Carvalho F, Simoes AR, Figueiredo A, Basu A, Jones J, Basu R., Free PMC Article | 11/2/2013 |
| renal phenotype of patients with transaldolase deficiency | Nephrological abnormalities in patients with transaldolase deficiency.
Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Fung CW, Valayannopoulos V, Bökenkamp A. | 01/12/2013 |
| these data provide strong experimental evidence that transaldolase exchange occurs in humans, resulting in an overestimate of gluconeogenesis | Transaldolase exchange and its effects on measurements of gluconeogenesis in humans.
Basu R, Barosa C, Basu A, Pattan V, Saad A, Jones J, Rizza R., Free PMC Article | 03/5/2011 |
| Data show that erythronic acid was identified as a major abnormal metabolite in all patients and in knock-out TALDO mice implicating an as yet unknown biochemical pathway in this disease. | Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA., Free PMC Article | 12/11/2010 |
| granzyme B-cleaved transaldolase-specific T cell-mediated cytotoxicity may contribute to the progressive destruction of oligodendrocytes in patients with multiple sclerosis | Cleavage of transaldolase by granzyme B causes the loss of enzymatic activity with retention of antigenicity for multiple sclerosis patients.
Niland B, Miklossy G, Banki K, Biddison WE, Casciola-Rosen L, Rosen A, Martinvalet D, Lieberman J, Perl A., Free PMC Article | 05/3/2010 |
| genetic polymorphisms in Transaldolase 1 are associated with squamous cell carcinoma of the head and neck . | Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck.
Basta PV, Bensen JT, Tse CK, Perou CM, Sullivan PF, Olshan AF, Basta PV, Bensen JT, Tse CK, Perou CM, Sullivan PF, Olshan AF., Free PMC Articles: PMC2614275, PMC2614275 | 01/21/2010 |
| analysis of enzymes TalB and Taldo1 in human and E. coli | Replacement of a phenylalanine by a tyrosine in the active site confers fructose-6-phosphate aldolase activity to the transaldolase of Escherichia coli and human origin.
Schneider S, Sandalova T, Schneider G, Sprenger GA, Samland AK., Free PMC Article | 01/21/2010 |
| The present study identified the TAL deficiency as a modulator of mitochondrial homoeostasis, Ca(2+) fluxing and apoptosis. | Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing.
Qian Y, Banerjee S, Grossman CE, Amidon W, Nagy G, Barcza M, Niland B, Karp DR, Middleton FA, Banki K, Perl A. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck.
Basta PV, Bensen JT, Tse CK, Perou CM, Sullivan PF, Olshan AF, Basta PV, Bensen JT, Tse CK, Perou CM, Sullivan PF, Olshan AF., Free PMC Articles: PMC2614275, PMC2614275 | 10/1/2008 |
| A new case of TALDO deficiency resulted in cirrhosis, rickets and deafness. | Transaldolase deficiency in a two-year-old boy with cirrhosis.
Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT. | 01/21/2010 |
| Transaldolase-deficient patients had significantly increased urinary heptoses, revealing novel urinary biomarkers for identification of the deficiency. | Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.
Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C. | 01/21/2010 |
| A patch of functionally important amino acid residues extends from serine-171 toward the catalytic site and is proposed as a novel ligand shuttling path connecting these specific sites to the enzyme's active site. | Computational methods for functional site identification suggest a substrate access channel in transaldolase.
Silberstein M, Landon MR, Wang YE, Perl A, Vajda S. | 01/21/2010 |
| transaldolase is regulated by ZNF143 in a tissue-specific manner | ZNF143 mediates basal and tissue-specific expression of human transaldolase.
Grossman CE, Qian Y, Banki K, Perl A. | 01/21/2010 |
| TALase undergoes anterograde trafficking in neutrophils from nonpregnant individuals, whereas retrograde trafficking is found during pregnancy | Transaldolase is part of a supramolecular complex containing glucose-6-phosphate dehydrogenase in human neutrophils that undergoes retrograde trafficking during pregnancy.
Huang JB, Espinoza J, Romero R, Petty HR. | 01/21/2010 |
| Mutation in the TALDO1 gene was found in patients with hydrops fetalis and neonatal multi-organ disease. | Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM. | 01/21/2010 |