Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Bioscience Reports

• Publication date

  2007-06-05

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/S10540-007-9043-2PMID 17549623
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation

  2007cited by this paper
• Mitochondrial neurogastrointestinal encephalomyopathy in three siblings

  2007influential reference
• Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

  2006cited by this paper
• Mitochondrial disease mimicking Charcot–Marie Tooth disease

  2006cited by this paper
• Infusion of platelets transiently reduces nucleoside overload in MNGIE

  2006cited by this paper
• Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

  2006cited by this paper
• Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy*

  2006cited by this paper
• Identification of the Mitochondrial Targeting Signal of the Human Equilibrative Nucleoside Transporter 1 (hENT1)

  2006cited by this paper
• Limitations of enzyme replacement therapy: Current and future

  2006cited by this paper
• Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

  2006cited by this paper
• Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

  2005influential reference
• Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity

  2005cited by this paper
• Mitochondrial Deoxynucleotide Pools in Quiescent Fibroblasts

  2005cited by this paper
• A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

  2005cited by this paper
• Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

  2005cited by this paper
• Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

  2005cited by this paper
• Psychiatric genetics: methods and reviews

  2004cited by this paper
• Mitochondrial Deoxyribonucleotides, Pool Sizes, Synthesis, and Regulation*

  2004cited by this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes

  2004cited by this paper
• Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE

  2004cited by this paper
• MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy.

  2004cited by this paper
• MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy

  2004cited by this paper
• Mitochondrial Expression of the Human Equilibrative Nucleoside Transporter 1 (hENT1) Results in Enhanced Mitochondrial Toxicity of Antiviral Drugs*

  2004cited by this paper
• Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.

  2004cited by this paper
• Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients

  2003influential reference
• Origins of mitochondrial thymidine triphosphate: Dynamic relations to cytosolic pools

  2003influential reference
• LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1

  2003cited by this paper
• ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.

  2003cited by this paper
• Deoxyribonucleotide Pool Imbalance Stimulates Deletions in HeLa Cell Mitochondrial DNA*

  2003cited by this paper
• Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.

  2003cited by this paper
• Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.

  2003cited by this paper
• Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients

  2003cited by this paper
• Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

  2002cited by this paper
• Phenotypic variability in a Spanish family with MNGIE

  2002cited by this paper
• Endovascular closure of a patent foramen ovale in the fat embolism syndrome: changes in the embolic patterns as detected by transcranial Doppler.

  2002cited by this paper
• Correction of ADA-SCID by Stem Cell Gene Therapy Combined with Nonmyeloablative Conditioning

  2002cited by this paper
• Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase*

  2002cited by this paper
• Thymidine phosphorylase: a two-face Janus in anticancer chemotherapy.

  2001influential reference
• Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

  2001cited by this paper
• Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

  2001cited by this paper
• The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

  2001cited by this paper
• Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.

  2000cited by this paper
• Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

  2000cited by this paper
• Role of adenine nucleotide translocator 1 in mtDNA maintenance.

  2000influential reference
• Nucleoside transporters of mammalian cells.

  1999cited by this paper
• Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

  1999cited by this paper
• Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

  1998cited by this paper
• Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis.

  1998influential reference
• Platelet-derived endothelial cell growth factor thymidine phosphorylase in tumour growth and response to therapy.

  1997cited by this paper
• Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression.

  1996cited by this paper
• Platelet‐derived endothelial cell growth factor/thymidine phosphorylase expression in normal tissues: An immunohistochemical study

  1995cited by this paper
• Thymidine phosphorylase is angiogenic and promotes tumor growth.

  1995influential reference
• Neurons of the peripheral nervous system express thymidine phosphorylase.

  1995cited by this paper
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

  1994cited by this paper
• Differences in activities and substrate specificity of human and murine pyrimidine nucleoside phosphorylases: implications for chemotherapy with 5-fluoropyrimidines.

  1993cited by this paper
• Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity.

  1992influential reference
• Platelet‐derived endothelial cell growth factor Pharmacokinetics, organ distribution and degradation after intravenous administration in rats

  1992cited by this paper
• Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor.

  1992influential reference
• Platelet-derived endothelial cell growth factor: structure and function.

  1991cited by this paper
• Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene

  1991influential reference
• Platelet‐derived endothelial cell growth factor

  1991cited by this paper
• Clinical syndromes associated with ragged red fibers.

  1991cited by this paper
• Purification and tissue distribution of human thymidine phosphorylase; high expression in lymphocytes, reticulocytes and tumors.

  1990influential reference
• Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

  1987cited by this paper
• Purification and properties of an endothelial cell growth factor from human platelets.

  1987cited by this paper
• Metabolic breakdown of [3H]thymidine and the inability to measure human lymphocyte proliferation by incorporation of radioactivity.

  1986cited by this paper
• Substrate specificity of a thymidine phosphorylase in human liver tumor.

  1984cited by this paper
• Catabolism of thymidine in human blood platelets: purification and properties of thymidine phosphorylase.

  1981influential reference
• Sequence and organization of the human mitochondrial genome

  1981cited by this paper
• Pharmacokinetic studies during phase I trials of high-dose thymidine infusions.

  1979cited by this paper

• Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights

  2025cites this paper
• Recognizing the rare: A clinical description of mitochondrial neuro-gastro-intestinal encephalopathy

  2025cites this paper
• Pseudo-obstruction intestinale chronique de l’adulte

  2024cites this paper
• Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases

  2024cites this paper
• Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes

  2024cites this paper
• Mitochondrial neurogastrointestinal encephalopathy: a case report

  2024cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy syndrome mimicking Guillain-Barre syndrome: A case report and literature review

  2022cites this paper
• [Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report].

  2022cites this paper
• Chronic intestinal pseudo-obstruction: a case report with review of the literature and practical guidance for the clinician.

  2022cites this paper
• Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy

  2021cites this paper
• Purine and Pyrimidine Metabolism

  2021cites this paper
• Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision

  2021cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

  2020cites this paper
• Pregnancy in MNGIE: a clinical and metabolic honeymoon

  2020cites this paper
• Latest developments in chronic intestinal pseudo-obstruction

  2020cites this paper
• Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

  2020cites this paper
• TYMP Gene

  2020cites this paper
• Neuroimaging Findings in Primary Mitochondrial Cytopathies

  2019cites this paper
• Characterization of a Novel Pathogenic Mutation Causing Mitochondrial Neurogastrointestinal Encephalopathy

  2019cites this paper
• Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group

  2018cites this paper
• Neuroimaging of Mitochondrial Cytopathies

  2018cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

  2018cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

  2018cites this paper
• Diseases of Muscle

  2018cites this paper
• Chronic intestinal pseudo‐obstruction in children and adults: diagnosis and therapeutic options

  2017influential citation
• Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

  2017cites this paper
• Lentiviral Hematopoietic Stem Cell Gene Therapy for MNGIE

  2017cites this paper
• Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation

  2017cites this paper
• Familial Dysautonomia and Mitochondrial Disorders

  2017cites this paper
• MITOCHONDRIAL DNA REPLICATION IN CELLS SUFFERING FROM NUCLEOTIDE POOL IMBALANCES

  2016cites this paper
• When to Suspect and How to Diagnose Mitochondrial Disorders?

  2016cites this paper
• Molecular Genetics of OXPHOS Disorders

  2016cites this paper
• Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

  2015cites this paper
• Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.

  2015cites this paper
• Learning Objectives.

  2015cites this paper
• Prospective therapeutic approaches in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

  2015cites this paper
• Metabolic and mitochondrial myopathies.

  2014cites this paper
• Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.

  2014cites this paper
• Nutritional treatment in a patient affected by Mithochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE)

  2014cites this paper
• Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy

  2014cites this paper
• Intestinal Motor Disorders

  2014cites this paper
• Syndromes associated with mitochondrial DNA depletion

  2014cites this paper
• The Role of Brain MRI in Mitochondrial Neurogastrointestinal Encephalomyopathy

  2013cites this paper
• Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

  2013cites this paper
• Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient

  2012cites this paper
• Nuclear-Mitochondrial Intergenomic Communication Disorders

  2012cites this paper
• Chapter 75 – Metabolic and Mitochondrial Myopathies

  2012cites this paper
• An Unusual Case of Paralytic Ileus

  2012cites this paper
• Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy

  2011influential citation
• Neurological disorders of purine and pyrimidine metabolism.

  2011cites this paper
• DETERMINING THE SPECIFIC ACTIVITY OF THYMIDINE PHOSPHORYLASE IN LEUKOCYTES OF PATIENTS WITH MNGIE AND THE PLASMA THYMIDINE LEVEL BY RP-HPLC

  2011cites this paper
• تعیین فعالیت آنزیم تیمیدین فسفریلاز گلبولهای سفید و تیمیدین پلاسما در بیماران MNGIE بهروش کروماتوگرافی مایع با کارایی بالا- فاز معکوس (RP-HPLC)

  2011cites this paper
• Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

  2011cites this paper
• Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE

  2011cites this paper
• Role and treatment of mitochondrial DNA-related mitochondrial dysfunction in sporadic neurodegenerative diseases.

  2011cites this paper
• Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy.

  2011cites this paper
• Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation.

  2011cites this paper
• The neuro-ophthalmology of mitochondrial disease.

  2010cites this paper
• Mitochondrial myopathy induces a starvation-like response.

  2010cites this paper
• PUPIL DISORDERS, IS PHARMACOLOGICAL TESTING NECESSARY?

  2010cites this paper
• Treatment of mitochondrial disorders.

  2010cites this paper
• HEREDITARY OPTIC NEUROPATHY, IS THERE A TREATMENT?

  2010cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation

  2010cites this paper
• Heterogeneous Nuclear Ribonucleoprotein H1/H2-dependent Unsplicing of Thymidine Phosphorylase Results in Anticancer Drug Resistance

  2010cites this paper
• Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

  2010influential citation
• Disorders of Voluntary Muscle: The clinical assessment and a guide to classification of the myopathies

  2010cites this paper
• Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.

  2009cites this paper
• Trends of hematopoietic stem cell transplantation in the third millennium

  2009cites this paper
• Metabolic Myopathies: Update 2009

  2009cites this paper
• Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker.

  2009cites this paper
• 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands.

  2009cites this paper
• Advances in molecular diagnostics for mitochondrial diseases.

  2009cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa.

  2009cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.

  2008cites this paper
• mitochondrial RNAs revealed

  year unknowncites this paper