Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice - Wikidata - awgldk - TriplyDB

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

http://www.wikidata.org/entity/Q37090114

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Electron Transport Disturbances and Neurodegeneration: From Albert Szent-Györgyi's Concept (Szeged) till Novel Approaches to Boost Mitochondrial Bioenergetics Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches Mitochondrial genome changes and neurodegenerative diseases Thymidine Phosphorylase Participates in Platelet Signaling and Promotes Thrombosis A novel structural mechanism for redox regulation of uridine phosphorylase 2 activity Nucleotide salvage deficiencies, DNA damage and neurodegeneration Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Therapeutic prospects for mitochondrial disease.The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.Reciprocal regulation of autophagy and dNTP pools in human cancer cells.Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.Long term expression of Drosophila melanogaster nucleoside kinase in thymidine kinase 2-deficient mice with no lethal effects caused by nucleotide pool imbalances.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.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.Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies.Mitochondrial ATP transporter Ant2 depletion impairs erythropoiesis and B lymphopoiesis Metabolism of deoxypyrimidines and deoxypyrimidine antiviral analogs in isolated brain mitochondria Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.Melatonin enhances neural stem cell differentiation and engraftment by increasing mitochondrial function.EglN2 associates with the NRF1-PGC1α complex and controls mitochondrial function in breast cancer A discovery resource of rare copy number variations in individuals with autism spectrum disorder.Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations Increased deoxythymidine triphosphate levels is a feature of relative cognitive decline.Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Mitochondrial dysfunction in central nervous system white matter disorders.Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy.Mitochondrial purine and pyrimidine metabolism and beyond.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.

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P2860

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

http://www.wikidata.org/entity/Q37090114

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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2008年學術文章

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2008年學術文章

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name

Unbalanced deoxynucleotide poo ...... e phosphorylase-deficient mice

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Unbalanced deoxynucleotide poo ...... phosphorylase-deficient mice.

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type

label

Unbalanced deoxynucleotide poo ...... e phosphorylase-deficient mice

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Unbalanced deoxynucleotide poo ...... phosphorylase-deficient mice.

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prefLabel

Unbalanced deoxynucleotide poo ...... e phosphorylase-deficient mice

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Unbalanced deoxynucleotide poo ...... phosphorylase-deficient mice.

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Human Molecular Genetics

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Unbalanced deoxynucleotide poo ...... e phosphorylase-deficient mice

@en

P2093

Angeles García-Cazorla

http://www.w3.org/2001/XMLSchema#string

Beatriz Dorado

http://www.w3.org/2001/XMLSchema#string

Dikoma Shungu

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Eduardo Bonilla

http://www.w3.org/2001/XMLSchema#string

Giuseppe Pizzorno

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Hasan O Akman

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Ichizo Nishino

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Kurenai Tanji

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Luis C López

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Michio Hirano

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P2860

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

Identification of a novel human uridine phosphorylase

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Strong purifying selection in transmission of mammalian mitochondrial DNA

Altered thymidine metabolism due to defects of thymidine phosphorylase

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Abnormalities in uridine homeostatic regulation and pyrimidine nucleotide metabolism as a consequence of the deletion of the uridine phosphorylase gene

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

White matter involvement in mitochondrial diseases.

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714-722

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scholarly article

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10.1093/HMG/DDN401

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4

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18

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2008-11-21T00:00:00Z

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23492565

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19028666

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mitochondrial DNA

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2638828

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