相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by theMNGIEInternational Network
Michio Hirano et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish
Nicola Facchinello et al.
CELL DEATH & DISEASE (2021)
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Elena Bonora et al.
BRAIN (2021)
Mitochondrial dynamics in health and disease
Nethmi M. B. Yapa et al.
FEBS LETTERS (2021)
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion
Pedro Silva-Pinheiro et al.
NUCLEIC ACIDS RESEARCH (2021)
MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations
Sneha Rath et al.
NUCLEIC ACIDS RESEARCH (2021)
DCTPP1 prevents a mutator phenotype through the modulation of dCTP, dTTP and dUTP pools
Blanca Martinez-Arribas et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2020)
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Valentina Del Dotto et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Omar Hikmat et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Kimberly A. Kripps et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective
Christopher B. Jackson et al.
TRENDS IN MOLECULAR MEDICINE (2020)
FBXL4 deficiency increases mitochondrial removal by autophagy
David Alsina et al.
EMBO MOLECULAR MEDICINE (2020)
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
Silvia Marchet et al.
HUMAN MUTATION (2020)
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
Valentina Baderna et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2020)
A novel homozygous variant in MICOS13/QIL1causes hepato-encephalopathy with mitochondrial DNA depletion syndrome
Yoshihito Kishita et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications
Roberto D'Angelo et al.
JOURNAL OF NEUROLOGY (2020)
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
Masaru Shimura et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Cristina Dominguez-Gonzalez et al.
SCIENTIFIC REPORTS (2020)
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
Ferran Vila-Julia et al.
EBIOMEDICINE (2020)
Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy
Ana Hernandez-Voth et al.
BMJ OPEN RESPIRATORY RESEARCH (2020)
Development of mitochondrial replacement therapy: A review
Hitika Sharma et al.
HELIYON (2020)
Roles of the mitochondrial replisome in mitochondrial DNA deletion formation
Marcos T. Oliveira et al.
GENETICS AND MOLECULAR BIOLOGY (2020)
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts
Cora Blazquez-Bermejo et al.
FASEB JOURNAL (2019)
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13
Bianca E. Russell et al.
HEPATOLOGY (2019)
The Alpha-1-Antitrypsin Promoter Improves the Efficacy of an AAV Vector for the Treatment of MNGIE
Raquel Cabrera-Perez et al.
HUMAN GENE THERAPY (2019)
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine
R. A. Wevers et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy
Cristina Dominguez-Gonzalez et al.
ANNALS OF NEUROLOGY (2019)
Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice
Xiaoshan Zhou et al.
HUMAN MOLECULAR GENETICS (2019)
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Cristina Dominguez-Gonzalez et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy
Michelle Levene et al.
JOURNAL OF CLINICAL MEDICINE (2019)
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration
Neringa Jurkute et al.
ANNALS OF NEUROLOGY (2019)
Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice
Cora Blazquez-Bermejo et al.
EBIOMEDICINE (2019)
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial
Bridget E. Bax et al.
JOURNAL OF CLINICAL MEDICINE (2019)
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
Maria Dominguez-Ruiz et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2019)
Mitochondria as central hub of the immune system
Cristiane Naffah de Souza Breda et al.
REDOX BIOLOGY (2019)
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency
Carlos Lopez-Gomez et al.
EBIOMEDICINE (2019)
Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy
Jayasimman Rajendran et al.
EMBO MOLECULAR MEDICINE (2019)
Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok-/- zebrafish
Benjamin Munro et al.
HUMAN MOLECULAR GENETICS (2019)
POLG-related disorders and their neurological manifestations
Shamima Rahman et al.
NATURE REVIEWS NEUROLOGY (2019)
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
Giuseppe Punzi et al.
HUMAN MOLECULAR GENETICS (2018)
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease
Veronika Boczonadi et al.
GENETICS IN MEDICINE (2018)
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy
Javier Torres-Torronteras et al.
HUMAN GENE THERAPY (2018)
Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems
Adam J. Kuszak et al.
ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 13 (2018)
Retrospective natural history of thymidine kinase 2 deficiency
Caterina Garone et al.
JOURNAL OF MEDICAL GENETICS (2018)
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA
Thomas J. Nicholls et al.
MOLECULAR CELL (2018)
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy
Amel Karaa et al.
NEUROLOGY (2018)
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A
Agostinho G. Rocha et al.
SCIENCE (2018)
Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE
Rana Yadak et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2018)
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
Kirsten E. Hoff et al.
PLOS ONE (2018)
Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases
Ayman W. El-Hattab et al.
MOLECULAR GENETICS AND METABOLISM (2018)
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions
Leonardo Caporali et al.
BRAIN (2018)
Intestinal Nucleoside Transporters: Function, Expression, and Regulation
Marcal Pastor-Anglada et al.
COMPREHENSIVE PHYSIOLOGY (2018)
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome
Stephanie E. Siegmund et al.
HUMAN MOLECULAR GENETICS (2017)
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Caterina Garone et al.
HUMAN MOLECULAR GENETICS (2017)
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
Alessia Nasca et al.
HUMAN MUTATION (2017)
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy
Roberto D'Angelo et al.
MITOCHONDRION (2017)
Lynn Margulis and the endosymbiont hypothesis: 50 years later
Michael W. Gray
MOLECULAR BIOLOGY OF THE CELL (2017)
Therapies for mitochondrial diseases and current clinical trials
Ayman W. El-Hattab et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
Benjamin Roeeben et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Rene G. Feichtinger et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
S. Nambot et al.
CLINICAL GENETICS (2017)
Mitochondrial DNA maintenance defects
Ayman W. El-Hattab et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
Carlos Lopez-Gomez et al.
ANNALS OF NEUROLOGY (2017)
Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases
Laras Pitayu et al.
HUMAN MOLECULAR GENETICS (2016)
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
Roberto De Giorgio et al.
ANNALS OF NEUROLOGY (2016)
Human mitochondrial DNA replication machinery and disease
Matthew J. Young et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2016)
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
Hemant Varma et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy
Javier Torres-Torronteras et al.
HUMAN GENE THERAPY (2016)
Mouse models for mitochondrial diseases
Benedetta Ruzzenente et al.
HUMAN MOLECULAR GENETICS (2016)
Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria
Anne Korwitz et al.
JOURNAL OF CELL BIOLOGY (2016)
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base
Kathryn M. Camp et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
Ashlee R. Stiles et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Solid organ transplantation in primary mitochondrial disease: Proceed with caution
Sumit Parikh et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Superior In vivo Transduction of Human Hepatocytes Using Engineered AAV3 Capsid
Koen Vercauteren et al.
MOLECULAR THERAPY (2016)
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy
Roberto D'Angelo et al.
NEUROLOGICAL SCIENCES (2016)
Mitochondrial purine and pyrimidine metabolism and beyond
Liya Wang
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS (2016)
Hypoxia as a therapy for mitochondrial disease
Isha H. Jain et al.
SCIENCE (2016)
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria
Ilaria Dalla Rosa et al.
PLOS GENETICS (2016)
Mitochondrial diseases
Grainne S. Gorman et al.
NATURE REVIEWS DISEASE PRIMERS (2016)
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Aurelio Reyes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
Joerg P. Halter et al.
BRAIN (2015)
Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models
Gabriele Civiletto et al.
CELL METABOLISM (2015)
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism
Arnaud Besse et al.
CELL METABOLISM (2015)
Pathophysiology of mitochondrial disease causing epilepsy and status epilepticus
Shamima Rahman
EPILEPSY & BEHAVIOR (2015)
Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability
Naghia Ahmed et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2015)
SEVERE TK2 ENZYME ACTIVITY DEFICIENCY IN PATIENTS WITH MILD FORMS OF MYOPATHY
Yolanda Camara et al.
NEUROLOGY (2015)
Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth
Jennifer J. Rahn et al.
NUCLEIC ACIDS RESEARCH (2015)
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
Grainne S. Gorman et al.
JAMA NEUROLOGY (2015)
Prospective therapeutic approaches in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Raquel Cabrera-Perez et al.
EXPERT OPINION ON ORPHAN DRUGS (2015)
Nucleoside transporter proteins as biomarkers of drug responsiveness and drug targets
Marcal Pastor-Anglada et al.
FRONTIERS IN PHARMACOLOGY (2015)
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh et al.
GENETICS IN MEDICINE (2015)
The NTP pyrophosphatase DCTPP1 contributes to the homoeostasis and cleansing of the dNTP pool in human cells
Cristina E. Requena et al.
BIOCHEMICAL JOURNAL (2014)
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
Gerald Pfeffer et al.
BRAIN (2014)
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy
Beatriz Garcia-Diaz et al.
BRAIN (2014)
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia
Alejandro Horga et al.
BRAIN (2014)
Serendipity and the Discovery of Novel Compounds That Restore Mitochondrial Plasticity
H. H. Szeto et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2014)
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Caterina Garone et al.
EMBO MOLECULAR MEDICINE (2014)
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
Yolanda Camara et al.
HUMAN MOLECULAR GENETICS (2014)
The Human SLC25A33 and SLC25A36 Genes of Solute Carrier Family 25 Encode Two Mitochondrial Pyrimidine Nucleotide Transporters
Maria Antonietta Di Noia et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Exercise as a Therapeutic Strategy for Primary Mitochondrial Cytopathies
Mark A. Tarnopolsky
JOURNAL OF CHILD NEUROLOGY (2014)
AAV-mediated Liver-specific MPV17 Expression Restores mtDNA Levels and Prevents Diet-induced Liver Failure
Emanuela Bottani et al.
MOLECULAR THERAPY (2014)
Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE
Javier Torres-Torronteras et al.
MOLECULAR THERAPY (2014)
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
Hiroyuki Morino et al.
NEUROLOGY (2014)
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
Alireza Haghighi et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions
Iselin Marie Wedding et al.
PLOS ONE (2014)
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy
Elisa Boschetti et al.
PLOS ONE (2014)
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
Penelope E. Bonnen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
Dario Ronchi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Cornelia Kornblum et al.
NATURE GENETICS (2013)
CLINICAL AND BIOCHEMICAL IMPROVEMENTS IN A PATIENT WITH MNGIE FOLLOWING ENZYME REPLACEMENT
Bridget E. Bax et al.
NEUROLOGY (2013)
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options
Ayman W. El-Hattab et al.
NEUROTHERAPEUTICS (2013)
The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells
Elisa Franzolin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome
Simon C. Johnson et al.
SCIENCE (2013)
Preclinical Toxicity Evaluation of Erythrocyte-Encapsulated Thymidine Phosphorylase in BALB/c Mice and Beagle Dogs: An Enzyme-Replacement Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy
Michelle Levene et al.
TOXICOLOGICAL SCIENCES (2013)
Non-myeloablative bone marrow transplant and platelet infusion can transiently improve the clinical outcome of mitochondrial neurogastrointestinal encephalopathy: A case report
Eiman Hussein
TRANSFUSION AND APHERESIS SCIENCE (2013)
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Cecile Rouzier et al.
BRAIN (2012)
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
Robert D. S. Pitceathly et al.
BRAIN (2012)
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi et al.
BRAIN (2012)
The pyrimidine nucleotide carrier PNC1 and mitochondrial trafficking of thymidine phosphates in cultured human cells
Elisa Franzolin et al.
EXPERIMENTAL CELL RESEARCH (2012)
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy
Massimiliano Filosto et al.
JOURNAL OF NEUROLOGY (2012)
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion
Stefanie Bulst et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Human mitochondrial DNA: roles of inherited and somatic mutations
Eric A. Schon et al.
NATURE REVIEWS GENETICS (2012)
Monogenic Mitochondrial Disorders
Werner J. H. Koopman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells
Giovanna Pontarin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
Sarah E. Calvo et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Regulation of PGC-1α, a nodal regulator of mitochondrial biogenesis
Pablo J. Fernandez-Marcos et al.
AMERICAN JOURNAL OF CLINICAL NUTRITION (2011)
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
J. Halter et al.
BONE MARROW TRANSPLANTATION (2011)
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
Caterina Garone et al.
BRAIN (2011)
Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE
J. Torres-Torronteras et al.
GENE THERAPY (2011)
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
Ghizlane Elachouri et al.
GENOME RESEARCH (2011)
Biochemical analysis of human POLG2 variants associated with mitochondrial disease
Matthew J. Young et al.
HUMAN MOLECULAR GENETICS (2011)
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly
Robert D. S. Pitceathly et al.
JOURNAL OF MEDICAL GENETICS (2011)
Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges
Federico Mingozzi et al.
NATURE REVIEWS GENETICS (2011)
RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS
C. Fratter et al.
NEUROLOGY (2011)
Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Emiliano Gonzalez-Vioque et al.
PLOS GENETICS (2011)
Ketogenic diet slows down mitochondrial myopathy progression in mice
Sofia Ahola-Erkkila et al.
HUMAN MOLECULAR GENETICS (2010)
Polymeric nanoreactors for enzyme replacement therapy of MNGIE
Caroline De Vocht et al.
JOURNAL OF CONTROLLED RELEASE (2010)
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease
Oswald Hasselmann et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Mitochondrial DNA depletion syndromes - Many genes, common mechanisms
Anu Suomalainen et al.
NEUROMUSCULAR DISORDERS (2010)
Mouse models of mtDNA replication diseases
Henna Tyynismaa et al.
METHODS (2010)
Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease
Neil V. Morgan et al.
PLOS GENETICS (2010)
The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency
Alessio Di Fonzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
Henna Tyynismaa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
Aziz Shaibani et al.
ARCHIVES OF NEUROLOGY (2009)
Association of Phosphatidic Acid with the Bovine Mitochondrial ADP/ATP Carrier
Richard M. Epand et al.
BIOCHEMISTRY (2009)
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
Steffi Goffart et al.
HUMAN MOLECULAR GENETICS (2009)
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
Carlo Viscomi et al.
HUMAN MOLECULAR GENETICS (2009)
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
Luis C. Lopez et al.
HUMAN MOLECULAR GENETICS (2009)
Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration
Paola Martinelli et al.
HUMAN MOLECULAR GENETICS (2009)
Assessment of stability, toxicity and immunogenicity of new polymeric nanoreactors for use in enzyme replacement therapy of MNGIE
Caroline De Vocht et al.
JOURNAL OF CONTROLLED RELEASE (2009)
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II
Shunsaku Kaji et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
Valeria Tiranti et al.
NATURE MEDICINE (2009)
Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice
Xiaoshan Zhou et al.
HUMAN MOLECULAR GENETICS (2008)
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
Hasan O. Akman et al.
HUMAN MOLECULAR GENETICS (2008)
Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations
Lee-Jun C. Wong et al.
HUMAN MUTATION (2008)
Carrier erythrocyte entrapped thymidine phosphorylas etherapy for MNGIE
N. F. Moran et al.
NEUROLOGY (2008)
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions:: a novel disorder of mtDNA maintenance
Gavin Hudson et al.
BRAIN (2008)
The insulin-like growth Factor-I-mTOR signaling pathway induces the mitochondrial pyrimidine nucleotide carrier to promote cell growth
Suzanne Floyd et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Deficiency of the a subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
Elsebet Ostergaard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mitochondrial DNA medicine
Salvatore DiMauro
BIOSCIENCE REPORTS (2007)
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Alice Bourdon et al.
NATURE GENETICS (2007)
Human Misato regulates mitochondrial distribution and morphology
Masashi Kimura et al.
EXPERIMENTAL CELL RESEARCH (2007)
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis
Haluk Yavuz et al.
ARCHIVES OF NEUROLOGY (2007)
Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders
M. Christine Rodriguez et al.
MUSCLE & NERVE (2007)
Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate
Paola Ferraro et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Effects of transient immunosuppression on adenoassociated, virus-mediated, liver-directed gene transfer in rhesus macaques and implications for human gene therapy
Haiyan Jiang et al.
BLOOD (2006)
Mitochondrial calcium signalling and cell death:: Approaches for assessing the role of mitochondrial Ca2+ uptake in apoptosis
Gyorgy Hajnoczky et al.
CELL CALCIUM (2006)
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
M. Hirano et al.
NEUROLOGY (2006)
Infusion of platelets transiently reduces nucleoside overload in MNGIE
M. C. Lara et al.
NEUROLOGY (2006)
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy
Giovanna Pontarin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Mitochondria: More than just a powerhouse
Heidi M. McBride et al.
CURRENT BIOLOGY (2006)
The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases
Charalampos Tzoulis et al.
BRAIN (2006)
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia
Matthew J. Longley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola et al.
NATURE GENETICS (2006)
Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver
AC Nathwani et al.
BLOOD (2006)
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
H Tyynismaa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
K Nikali et al.
HUMAN MOLECULAR GENETICS (2005)
Mitochondrial deoxynucleotide pools in quiescent fibroblasts - A possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
P Ferraro et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
O Elpeleg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Adeno-associated virus-mediated gene transfer of the heart/muscle adenine nucleotide translocator (ANT) in mouse
A Flierl et al.
GENE THERAPY (2005)
Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs
YR Lai et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy
Y Nishigaki et al.
HUMAN MOLECULAR GENETICS (2004)
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
S Wanrooij et al.
NUCLEIC ACIDS RESEARCH (2004)
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
S Santra et al.
ANNALS OF NEUROLOGY (2004)
Premature ageing in mice expressing defective mitochondrial DNA polymerase
A Trifunovic et al.
NATURE (2004)
TWINKLE has 5′→3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein
JA Korhonen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
R Del Bo et al.
NEUROLOGY (2003)
Origins of mitochondrial thymidine triphosphate: Dynamic relations to cytosolic pools
G Pontarin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
JW Taanman et al.
HUMAN MOLECULAR GENETICS (2003)
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools
T Kimura et al.
NATURE GENETICS (2003)
Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic β cell:: Evidence for its complexation with mitochondrial succinyl-CoA synthetase
A Kowluru et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2002)
Altered thymidine metabolism due to defects of thymidine phosphorylase
A Spinazzola et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
A Saada et al.
NATURE GENETICS (2001)
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
H Mandel et al.
NATURE GENETICS (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
NATURE GENETICS (2001)
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
JN Spelbrink et al.
NATURE GENETICS (2001)
Role of adenine nucleotide translocator 1 in mtDNA maintenance
J Kaukonen et al.
SCIENCE (2000)
A deoxyribonucleotidase in mitochondria: Involvement in regulation of dNTP pools and possible link to genetic disease
C Rampazzo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure
S Krähenbühl et al.
LIVER (2000)
分享论文
