Page last updated: 2024-11-06

thymidine and Encephalomyopathies, Mitochondrial

thymidine has been researched along with Encephalomyopathies, Mitochondrial in 29 studies

Research Excerpts

ExcerptRelevanceReference
"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."3.69Maternally 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."1.51Mitochondrial 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."1.33Mitochondrial 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)

Research

Studies (29)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (6.90)18.2507
2000's14 (48.28)29.6817
2010's10 (34.48)24.3611
2020's3 (10.34)2.80

Authors

AuthorsStudies
Ammar, M1
Safi, W1
Tlili, A1
Alila-Fersi, O1
Frikha, F1
Chouchen, J1
Mnif, F1
Kharrat, M1
Maalej, M1
Felhi, R1
Abid, M1
Mnif-Feki, M1
Kacem, FH1
Fakhfakh, F1
Mkaouar-Rebai, E1
Harada, N1
Nagasaki, H1
Yamamoto, H1
Matsubara, K1
Suzuki, T1
Gomori, A1
Yokogawa, T1
Matsuo, K1
Miyadera, K1
Kripps, K1
Nakayuenyongsuk, W1
Shayota, BJ1
Berquist, W1
Gomez-Ospina, N1
Esquivel, CO1
Concepcion, W1
Sampson, JB1
Cristin, DJ1
Jackson, WE1
Gilliland, S1
Pomfret, EA1
Kueht, ML1
Pettit, RW1
Sherif, YA1
Emrick, LT1
Elsea, SH1
Himes, R1
Hirano, M12
Van Hove, JLK1
Scaglia, F2
Enns, GM1
Larson, AA1
Röeben, B1
Marquetand, J1
Bender, B1
Billing, H1
Haack, TB1
Sanchez-Albisua, I1
Schöls, L1
Blom, HJ1
Synofzik, M1
Levene, M1
Enguita, FJ1
Bax, BE1
Patel, R1
Coulter, LL1
Rimmer, J1
Parkes, M1
Chinnery, PF1
Swift, O1
Perez-Atayde, AR1
Torres-Torronteras, J1
Viscomi, C1
Cabrera-Pérez, R1
Cámara, Y1
Di Meo, I1
Barquinero, J1
Auricchio, A1
Pizzorno, G2
Zeviani, M1
Martí, R7
Mohamed, S2
Caporali, L2
De Giorgio, R2
Carelli, V3
Contin, M2
Garcia-Diaz, B1
Garone, C1
Barca, E1
Mojahed, H1
Gutierrez, P1
Tanji, K2
Arias-Mendoza, F1
Quinzii, CM1
D'Angelo, R1
Rinaldi, R1
Pironi, L1
Dotti, MT1
Pinna, AD1
Boschetti, E1
Capristo, M1
Massa, R1
Tessa, A1
Margollicci, M1
Micheli, V1
Romigi, A1
Tozzi, G1
Terracciano, C1
Piemonte, F1
Bernardi, G1
Santorelli, FM2
Borhani Haghighi, A1
Nabavizadeh, A1
Sass, JO1
Safari, A1
Lankarani, KB1
López, LC2
El-Hattab, AW1
Song, S1
Wheeler, LJ1
Mathews, CK1
Nishigaki, Y3
Spinazzola, A2
Tadesse, S2
Nishino, I2
Slama, A1
Lacroix, C1
Plante-Bordeneuve, V1
Lombès, A1
Conti, M1
Reimund, JM1
Auxenfants, E1
Crenn, P1
Laforêt, P1
Joannard, A1
Seguy, D1
Pillant, H1
Joly, P1
Haut, S1
Messing, B1
Said, G1
Legrand, A1
Guiochon-Mantel, A1
Ferraro, P2
Pontarin, G2
Crocco, L1
Fabris, S1
Reichard, P2
Bianchi, V2
Lagier-Tourenne, C1
Valentino, ML4
la Marca, G1
Malvagia, S1
Casetta, B1
Pasquini, E1
Pela, I1
Donati, MA1
Zammarchi, E1
Lara, MC1
Weiss, B1
Illa, I1
Madoz, P1
Massuet, L1
Andreu, AL1
Anikster, Y1
Schüpbach, WM1
Vadday, KM1
Schaller, A1
Brekenfeld, C1
Kappeler, L1
Benoist, JF1
Xuan-Huong, CN1
Burgunder, JM1
Seibold, F1
Gallati, S1
Mattle, HP1
Yavuz, H1
Ozel, A1
Christensen, M1
Christensen, E1
Schwartz, M1
Elmaci, M1
Vissing, J1
Manes, JL1
Lyzak, J1
Hahn, A1
Sano, M1
Shanske, S1
El-Shahawi, M1
Kranz-Eble, P1
DiMauro, S1
De Vivo, DC1

Clinical Trials (4)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
The Rare Disease Clinical Research Network Natural History Study of MNGIE[NCT01694953]10 participants (Anticipated)Observational2013-02-28Recruiting
MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) AHSCT (Allogeneic Hematopoietic Stem Cell Transplant) Safety Study[NCT02427178]Phase 10 participants (Actual)Interventional2015-03-31Withdrawn (stopped due to Poor enrollment)
Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy[NCT02375438]26 participants (Actual)Observational2014-12-31Completed
A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders[NCT04802707]Phase 250 participants (Anticipated)Interventional2021-10-18Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

1 review available for thymidine and Encephalomyopathies, Mitochondrial

ArticleYear
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2013, Volume: 10, Issue:2

    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.
    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2013, Volume: 10, Issue:2

    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.
    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2013, Volume: 10, Issue:2

    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.
    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2013, Volume: 10, Issue:2

    Topics: DNA Replication; DNA, Mitochondrial; Humans; Liver Transplantation; Mitochondrial Diseases; Mitochon

2013

Other Studies

28 other studies available for thymidine and Encephalomyopathies, Mitochondrial

ArticleYear
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2022, Volume: 82, Issue:7

    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.
    The Journal of biological chemistry, 2023, Volume: 299, Issue:3

    Topics: Animals; DNA, Mitochondrial; Growth Disorders; Humans; Mammals; Mice; Mitochondrial Encephalomyopath

2023
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    Molecular genetics and metabolism, 2020, Volume: 130, Issue:1

    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.
    Orphanet journal of rare diseases, 2017, 08-01, Volume: 12, Issue:1

    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).
    Nucleosides, nucleotides & nucleic acids, 2018, Volume: 37, Issue:11

    Topics: Computational Biology; Deoxyuridine; Gene Expression Regulation; Humans; MicroRNAs; Mitochondria; Mi

2018
Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease.
    BMC gastroenterology, 2019, Jan-15, Volume: 19, Issue:1

    Topics: Adult; Age of Onset; Azathioprine; Crohn Disease; Deoxyuridine; Diagnosis, Differential; Female; Gas

2019
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies.
    Human pathology, 2013, Volume: 44, Issue:7

    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.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2014, Volume: 22, Issue:5

    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.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2014, Feb-15, Volume: 949-950

    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.
    Brain : a journal of neurology, 2014, Volume: 137, Issue:Pt 5

    Topics: Age Factors; Animals; Body Weight; Brain; Deoxyribonucleosides; Disease Models, Animal; Intestinal P

2014
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.
    Mitochondrion, 2017, Volume: 34

    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.
    Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:12

    Topics: Age of Onset; Brain; Cells, Cultured; Female; Fibroblasts; Humans; Middle Aged; Mitochondrial Enceph

2009
Mitochondrial neurogastrointestinal encephalomyopathy.
    Archives of Iranian medicine, 2009, Volume: 12, Issue:6

    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.
    Methods in molecular biology (Clifton, N.J.), 2012, Volume: 837

    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.
    Methods in molecular biology (Clifton, N.J.), 2012, Volume: 837

    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.
    Methods in molecular biology (Clifton, N.J.), 2012, Volume: 837

    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.
    Methods in molecular biology (Clifton, N.J.), 2012, Volume: 837

    Topics: Analytic Sample Preparation Methods; Deoxyuridine; Enzyme Assays; Humans; Intestinal Pseudo-Obstruct

2012
Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.
    The Journal of biological chemistry, 2003, Nov-07, Volume: 278, Issue:45

    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.
    Human molecular genetics, 2004, Jan-01, Volume: 13, Issue:1

    Topics: Base Sequence; Blotting, Southern; Deoxyuridine; DNA, Mitochondrial; Electron Transport Complex I; H

2004
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
    Clinical chemistry, 2004, Volume: 50, Issue:1

    Topics: Chromatography, High Pressure Liquid; Deoxyuridine; Gastrointestinal Diseases; Humans; Mitochondrial

2004
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
    Molecular genetics and metabolism, 2005, Volume: 84, Issue:4

    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).
    The Journal of biological chemistry, 2005, Jul-01, Volume: 280, Issue:26

    Topics: Cell Line; Cell Proliferation; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Cul

2005
Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
    Gene, 2005, Jul-18, Volume: 354

    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.
    Journal of mass spectrometry : JMS, 2006, Volume: 41, Issue:5

    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.
    The Journal of biological chemistry, 2006, Aug-11, Volume: 281, Issue:32

    Topics: Adenosine Triphosphate; Cytosol; DNA, Mitochondrial; Fibroblasts; Gastrointestinal Diseases; Humans;

2006
Infusion of platelets transiently reduces nucleoside overload in MNGIE.
    Neurology, 2006, Oct-24, Volume: 67, Issue:8

    Topics: Adolescent; Adult; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Male; Mitochondrial Ence

2006
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.
    Journal of neurology, 2007, Volume: 254, Issue:2

    Topics: Adult; Corpus Striatum; Diseases in Twins; Exons; Humans; Magnetic Resonance Imaging; Magnetic Reson

2007
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.
    Archives of neurology, 2007, Volume: 64, Issue:3

    Topics: Adolescent; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Longitudinal Studies; Magnetic

2007
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    FEBS letters, 2007, Jul-24, Volume: 581, Issue:18

    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.
    Annals of neurology, 1997, Volume: 42, Issue:2

    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.
    Science (New York, N.Y.), 1999, Jan-29, Volume: 283, Issue:5402

    Topics: Amino Acid Sequence; Chromosomes, Human, Pair 22; DNA, Mitochondrial; Exons; Gastrointestinal Motili

1999