Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
about
Chronic intestinal pseudo-obstructionNucleotide salvage deficiencies, DNA damage and neurodegenerationClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathyGastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletionTherapeutic prospects for mitochondrial disease.Defects in mitochondrial DNA replication and human diseaseLong term expression of Drosophila melanogaster nucleoside kinase in thymidine kinase 2-deficient mice with no lethal effects caused by nucleotide pool imbalances.Physiological and pharmacological roles of nucleoside transporter proteins.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceMolecular diagnostics and mitochondrial dysfunction: a future perspective.Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Erythrocyte-mediated delivery of recombinant enzymes.Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.Advances in molecular diagnostics for mitochondrial diseases.Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.Transgene expression of Drosophila melanogaster nucleoside kinase reverses mitochondrial thymidine kinase 2 deficiency.Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.Validation of an Immunoassay for Anti-thymidine Phosphorylase Antibodies in Patients with MNGIE Treated with Enzyme Replacement Therapy
P2860
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P2860
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Thymidine and deoxyuridine acc ...... inal encephalomyopathy (MNGIE)
@ast
Thymidine and deoxyuridine acc ...... inal encephalomyopathy (MNGIE)
@en
type
label
Thymidine and deoxyuridine acc ...... inal encephalomyopathy (MNGIE)
@ast
Thymidine and deoxyuridine acc ...... inal encephalomyopathy (MNGIE)
@en
prefLabel
Thymidine and deoxyuridine acc ...... inal encephalomyopathy (MNGIE)
@ast
Thymidine and deoxyuridine acc ...... inal encephalomyopathy (MNGIE)
@en
P2093
P2860
P50
P1433
P1476
Thymidine and deoxyuridine acc ...... inal encephalomyopathy (MNGIE)
@en
P2093
Angelika Hahn
Jose L Manes
Judy Lyzak
Michio Hirano
Saba Tadesse
P2860
P304
P356
10.1016/J.FEBSLET.2007.06.042
P407
P577
2007-06-27T00:00:00Z