thymidine has been researched along with Encephalomyopathies, Mitochondrial in 29 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "We identified a single thymidine insertion at nucleotide position 5537 (T5537i) in the mitochondrial DNA transfer RNA gene for tryptophan in a family in which the proband had a progressive neurological disorder and his brother died in infancy of Leigh syndrome." | 3.69 | Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. ( De Vivo, DC; DiMauro, S; El-Shahawi, M; Kranz-Eble, P; Sano, M; Santorelli, FM; Shanske, S; Tanji, K, 1997) |
| "Two sisters, initially managed for Crohn's disease based upon clinical, imaging and pathological findings, were later found to have MNGIE." | 1.51 | Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease. ( Chinnery, PF; Coulter, LL; Parkes, M; Patel, R; Rimmer, J; Swift, O, 2019) |
| "Deoxyuridine does not increase the normal dNTP pools but gives rise to a small dUTP and a large dUMP pool, both turning over rapidly." | 1.33 | Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( Bianchi, V; Crocco, L; Fabris, S; Ferraro, P; Pontarin, G; Reichard, P, 2005) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (6.90) | 18.2507 |
| 2000's | 14 (48.28) | 29.6817 |
| 2010's | 10 (34.48) | 24.3611 |
| 2020's | 3 (10.34) | 2.80 |
| Authors | Studies |
|---|---|
| Ammar, M | 1 |
| Safi, W | 1 |
| Tlili, A | 1 |
| Alila-Fersi, O | 1 |
| Frikha, F | 1 |
| Chouchen, J | 1 |
| Mnif, F | 1 |
| Kharrat, M | 1 |
| Maalej, M | 1 |
| Felhi, R | 1 |
| Abid, M | 1 |
| Mnif-Feki, M | 1 |
| Kacem, FH | 1 |
| Fakhfakh, F | 1 |
| Mkaouar-Rebai, E | 1 |
| Harada, N | 1 |
| Nagasaki, H | 1 |
| Yamamoto, H | 1 |
| Matsubara, K | 1 |
| Suzuki, T | 1 |
| Gomori, A | 1 |
| Yokogawa, T | 1 |
| Matsuo, K | 1 |
| Miyadera, K | 1 |
| Kripps, K | 1 |
| Nakayuenyongsuk, W | 1 |
| Shayota, BJ | 1 |
| Berquist, W | 1 |
| Gomez-Ospina, N | 1 |
| Esquivel, CO | 1 |
| Concepcion, W | 1 |
| Sampson, JB | 1 |
| Cristin, DJ | 1 |
| Jackson, WE | 1 |
| Gilliland, S | 1 |
| Pomfret, EA | 1 |
| Kueht, ML | 1 |
| Pettit, RW | 1 |
| Sherif, YA | 1 |
| Emrick, LT | 1 |
| Elsea, SH | 1 |
| Himes, R | 1 |
| Hirano, M | 12 |
| Van Hove, JLK | 1 |
| Scaglia, F | 2 |
| Enns, GM | 1 |
| Larson, AA | 1 |
| Röeben, B | 1 |
| Marquetand, J | 1 |
| Bender, B | 1 |
| Billing, H | 1 |
| Haack, TB | 1 |
| Sanchez-Albisua, I | 1 |
| Schöls, L | 1 |
| Blom, HJ | 1 |
| Synofzik, M | 1 |
| Levene, M | 1 |
| Enguita, FJ | 1 |
| Bax, BE | 1 |
| Patel, R | 1 |
| Coulter, LL | 1 |
| Rimmer, J | 1 |
| Parkes, M | 1 |
| Chinnery, PF | 1 |
| Swift, O | 1 |
| Perez-Atayde, AR | 1 |
| Torres-Torronteras, J | 1 |
| Viscomi, C | 1 |
| Cabrera-Pérez, R | 1 |
| Cámara, Y | 1 |
| Di Meo, I | 1 |
| Barquinero, J | 1 |
| Auricchio, A | 1 |
| Pizzorno, G | 2 |
| Zeviani, M | 1 |
| Martí, R | 7 |
| Mohamed, S | 2 |
| Caporali, L | 2 |
| De Giorgio, R | 2 |
| Carelli, V | 3 |
| Contin, M | 2 |
| Garcia-Diaz, B | 1 |
| Garone, C | 1 |
| Barca, E | 1 |
| Mojahed, H | 1 |
| Gutierrez, P | 1 |
| Tanji, K | 2 |
| Arias-Mendoza, F | 1 |
| Quinzii, CM | 1 |
| D'Angelo, R | 1 |
| Rinaldi, R | 1 |
| Pironi, L | 1 |
| Dotti, MT | 1 |
| Pinna, AD | 1 |
| Boschetti, E | 1 |
| Capristo, M | 1 |
| Massa, R | 1 |
| Tessa, A | 1 |
| Margollicci, M | 1 |
| Micheli, V | 1 |
| Romigi, A | 1 |
| Tozzi, G | 1 |
| Terracciano, C | 1 |
| Piemonte, F | 1 |
| Bernardi, G | 1 |
| Santorelli, FM | 2 |
| Borhani Haghighi, A | 1 |
| Nabavizadeh, A | 1 |
| Sass, JO | 1 |
| Safari, A | 1 |
| Lankarani, KB | 1 |
| López, LC | 2 |
| El-Hattab, AW | 1 |
| Song, S | 1 |
| Wheeler, LJ | 1 |
| Mathews, CK | 1 |
| Nishigaki, Y | 3 |
| Spinazzola, A | 2 |
| Tadesse, S | 2 |
| Nishino, I | 2 |
| Slama, A | 1 |
| Lacroix, C | 1 |
| Plante-Bordeneuve, V | 1 |
| Lombès, A | 1 |
| Conti, M | 1 |
| Reimund, JM | 1 |
| Auxenfants, E | 1 |
| Crenn, P | 1 |
| Laforêt, P | 1 |
| Joannard, A | 1 |
| Seguy, D | 1 |
| Pillant, H | 1 |
| Joly, P | 1 |
| Haut, S | 1 |
| Messing, B | 1 |
| Said, G | 1 |
| Legrand, A | 1 |
| Guiochon-Mantel, A | 1 |
| Ferraro, P | 2 |
| Pontarin, G | 2 |
| Crocco, L | 1 |
| Fabris, S | 1 |
| Reichard, P | 2 |
| Bianchi, V | 2 |
| Lagier-Tourenne, C | 1 |
| Valentino, ML | 4 |
| la Marca, G | 1 |
| Malvagia, S | 1 |
| Casetta, B | 1 |
| Pasquini, E | 1 |
| Pela, I | 1 |
| Donati, MA | 1 |
| Zammarchi, E | 1 |
| Lara, MC | 1 |
| Weiss, B | 1 |
| Illa, I | 1 |
| Madoz, P | 1 |
| Massuet, L | 1 |
| Andreu, AL | 1 |
| Anikster, Y | 1 |
| Schüpbach, WM | 1 |
| Vadday, KM | 1 |
| Schaller, A | 1 |
| Brekenfeld, C | 1 |
| Kappeler, L | 1 |
| Benoist, JF | 1 |
| Xuan-Huong, CN | 1 |
| Burgunder, JM | 1 |
| Seibold, F | 1 |
| Gallati, S | 1 |
| Mattle, HP | 1 |
| Yavuz, H | 1 |
| Ozel, A | 1 |
| Christensen, M | 1 |
| Christensen, E | 1 |
| Schwartz, M | 1 |
| Elmaci, M | 1 |
| Vissing, J | 1 |
| Manes, JL | 1 |
| Lyzak, J | 1 |
| Hahn, A | 1 |
| Sano, M | 1 |
| Shanske, S | 1 |
| El-Shahawi, M | 1 |
| Kranz-Eble, P | 1 |
| DiMauro, S | 1 |
| De Vivo, DC | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| The Rare Disease Clinical Research Network Natural History Study of MNGIE[NCT01694953] | 10 participants (Anticipated) | Observational | 2013-02-28 | Recruiting | |||
| MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) AHSCT (Allogeneic Hematopoietic Stem Cell Transplant) Safety Study[NCT02427178] | Phase 1 | 0 participants (Actual) | Interventional | 2015-03-31 | Withdrawn (stopped due to Poor enrollment) | ||
| Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy[NCT02375438] | 26 participants (Actual) | Observational | 2014-12-31 | Completed | |||
| A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders[NCT04802707] | Phase 2 | 50 participants (Anticipated) | Interventional | 2021-10-18 | Recruiting | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for thymidine and Encephalomyopathies, Mitochondrial
| Article | Year |
|---|---|
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
Topics: DNA Replication; DNA, Mitochondrial; Humans; Liver Transplantation; Mitochondrial Diseases; Mitochon | 2013 |
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
Topics: DNA Replication; DNA, Mitochondrial; Humans; Liver Transplantation; Mitochondrial Diseases; Mitochon | 2013 |
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
Topics: DNA Replication; DNA, Mitochondrial; Humans; Liver Transplantation; Mitochondrial Diseases; Mitochon | 2013 |
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
Topics: DNA Replication; DNA, Mitochondrial; Humans; Liver Transplantation; Mitochondrial Diseases; Mitochon | 2013 |
28 other studies available for thymidine and Encephalomyopathies, Mitochondrial
| Article | Year |
|---|---|
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
Topics: DNA, Mitochondrial; Female; Humans; Male; Mitochondrial Encephalomyopathies; Molecular Docking Simul | 2022 |
Depletion of plasma thymidine results in growth retardation and mitochondrial myopathy in mice overexpressing human thymidine phosphorylase.
Topics: Animals; DNA, Mitochondrial; Growth Disorders; Humans; Mammals; Mice; Mitochondrial Encephalomyopath | 2023 |
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Topics: Adolescent; Adult; Esophageal Motility Disorders; Exome Sequencing; Female; Hematopoietic Stem Cell | 2020 |
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
Topics: Adult; Central Nervous System Diseases; Deoxyuridine; Humans; Intestinal Pseudo-Obstruction; Male; M | 2017 |
Discovery profiling and bioinformatics analysis of serum microRNA in Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE).
Topics: Computational Biology; Deoxyuridine; Gene Expression Regulation; Humans; MicroRNAs; Mitochondria; Mi | 2018 |
Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease.
Topics: Adult; Age of Onset; Azathioprine; Crohn Disease; Deoxyuridine; Diagnosis, Differential; Female; Gas | 2019 |
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies.
Topics: Adolescent; Biopsy; Fatal Outcome; Ganglia, Autonomic; Gastrointestinal Tract; Humans; Intestinal Ps | 2013 |
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.
Topics: Animals; Dependovirus; Disease Models, Animal; DNA, Mitochondrial; Genetic Therapy; Genetic Vectors; | 2014 |
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency.
Topics: Adult; Chromatography, High Pressure Liquid; Deoxyuridine; Female; Humans; Intestinal Pseudo-Obstruc | 2014 |
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.
Topics: Age Factors; Animals; Body Weight; Brain; Deoxyribonucleosides; Disease Models, Animal; Intestinal P | 2014 |
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.
Topics: Deoxyuridine; Female; Humans; Intestinal Pseudo-Obstruction; Liver Transplantation; Male; Metabolism | 2017 |
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.
Topics: Age of Onset; Brain; Cells, Cultured; Female; Fibroblasts; Humans; Middle Aged; Mitochondrial Enceph | 2009 |
Mitochondrial neurogastrointestinal encephalomyopathy.
Topics: Adult; Gastrointestinal Diseases; Humans; Magnetic Resonance Imaging; Male; Mitochondrial Encephalom | 2009 |
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.
Topics: Analytic Sample Preparation Methods; Deoxyuridine; Enzyme Assays; Humans; Intestinal Pseudo-Obstruct | 2012 |
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.
Topics: Analytic Sample Preparation Methods; Deoxyuridine; Enzyme Assays; Humans; Intestinal Pseudo-Obstruct | 2012 |
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.
Topics: Analytic Sample Preparation Methods; Deoxyuridine; Enzyme Assays; Humans; Intestinal Pseudo-Obstruct | 2012 |
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.
Topics: Analytic Sample Preparation Methods; Deoxyuridine; Enzyme Assays; Humans; Intestinal Pseudo-Obstruct | 2012 |
Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.
Topics: Base Pairing; Blotting, Southern; Deoxyadenine Nucleotides; Deoxycytosine Nucleotides; Deoxyguanine | 2003 |
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
Topics: Base Sequence; Blotting, Southern; Deoxyuridine; DNA, Mitochondrial; Electron Transport Complex I; H | 2004 |
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
Topics: Chromatography, High Pressure Liquid; Deoxyuridine; Gastrointestinal Diseases; Humans; Mitochondrial | 2004 |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Topics: Adult; Child; DNA, Mitochondrial; Humans; Intestinal Pseudo-Obstruction; Mitochondrial Encephalomyop | 2005 |
Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Topics: Cell Line; Cell Proliferation; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Cul | 2005 |
Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
Topics: Deoxyuridine; DNA, Mitochondrial; Humans; Kidney; Mitochondrial Encephalomyopathies; Models, Biologi | 2005 |
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.
Topics: Adult; Chromatography, High Pressure Liquid; Fatal Outcome; Female; Humans; Mitochondrial Encephalom | 2006 |
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy.
Topics: Adenosine Triphosphate; Cytosol; DNA, Mitochondrial; Fibroblasts; Gastrointestinal Diseases; Humans; | 2006 |
Infusion of platelets transiently reduces nucleoside overload in MNGIE.
Topics: Adolescent; Adult; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Male; Mitochondrial Ence | 2006 |
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.
Topics: Adult; Corpus Striatum; Diseases in Twins; Exons; Humans; Magnetic Resonance Imaging; Magnetic Reson | 2007 |
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.
Topics: Adolescent; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Longitudinal Studies; Magnetic | 2007 |
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Topics: Adolescent; Adult; Autopsy; Biopsy; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Infant; | 2007 |
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
Topics: Adult; Animals; Autopsy; Base Sequence; Child; Cytochrome-c Oxidase Deficiency; DNA Transposable Ele | 1997 |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
Topics: Amino Acid Sequence; Chromosomes, Human, Pair 22; DNA, Mitochondrial; Exons; Gastrointestinal Motili | 1999 |