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。Mutation Spectrum of Primary Lipid Storage Myopathies
Seena Vengalil et al.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY (2022)
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
Bing Wen et al.
HUMAN MOLECULAR GENETICS (2022)
Mimicking human riboflavin responsive neuromuscular disorders by silencing flad-1 gene in C. elegans: Alteration of vitamin transport and cholinergic transmission
Piero Leone et al.
IUBMB LIFE (2022)
Exploring the Ability of LARS2 Carboxy-Terminal Domain in Rescuing the MELAS Phenotype
Francesco Capriglia et al.
LIFE-BASEL (2021)
Neuroprotective potential of isothiocyanates in an in vitro model of neuroinflammation
Tiziana Latronico et al.
INFLAMMOPHARMACOLOGY (2021)
The Age-Sensitive Efficacy of Calorie Restriction on Mitochondrial Biogenesis and mtDNA Damage in Rat Liver
Guglielmina Chimienti et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
PGC1s and Beyond: Disentangling the Complex Regulation of Mitochondrial and Cellular Metabolism
Lara Coppi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
Yun Jeong Lee et al.
NEUROMUSCULAR DISORDERS (2021)
The Mitochondrial Trigger in an Animal Model of Nonalcoholic Fatty Liver Disease
Guglielmina Chimienti et al.
GENES (2021)
The cell biology of mitochondrial membrane dynamics
Marta Giacomello et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)
Succinate accumulation induces mitochondrial reactive oxygen species generation and promotes status epilepticus in the kainic acid rat model
Yurong Zhang et al.
REDOX BIOLOGY (2020)
Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy
Maria Tolomeo et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report
Kenji Yamada et al.
BRAIN & DEVELOPMENT (2019)
Differences in Liver TFAM Binding to mtDNA and mtDNA Damage between Aged and Extremely Aged Rats
Guglielmina Chimienti et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
The hidden side of the human FAD synthase 2
Piero Leone et al.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES (2019)
Deletion of OGG1 Results in a Differential Signature of Oxidized Purine Base Damage in mtDNA Regions
Guglielmina Chimienti et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding
Piero Leone et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Mitochondria and redox balance in coeliac disease: A case-control study
Anna Picca et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2018)
Increased TFAM binding to mtDNA damage hot spots is associated with mtDNA loss in aged rat heart
Guglielmina Chimienti et al.
FREE RADICAL BIOLOGY AND MEDICINE (2018)
Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
Piero Leone et al.
MOLECULES (2018)
Regulatory crosstalk between the oxidative stress-related transcription factor Nfe212/Nrf2 and mitochondria
In-geun Ryoo et al.
TOXICOLOGY AND APPLIED PHARMACOLOGY (2018)
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts
Judit Garcia-Villoria et al.
CLINICAL GENETICS (2018)
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
Debby Mei Hellebrekers et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Signe Mosegaard et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Rikke K. J. Olsen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Regulation of mitochondrial genome replication by hypoxia: The role of DNA oxidation in D-loop region
Viktor M. Pastukh et al.
FREE RADICAL BIOLOGY AND MEDICINE (2016)
Riboflavin transport and metabolism in humans
Maria Barile et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
Manuel Schiff et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts
Aviram Kogot-Levin et al.
PLOS ONE (2016)
Cytotoxicity Study on Luminescent Nanocrystals Containing Phospholipid Micelles in Primary Cultures of Rat Astrocytes
Tiziana Latronico et al.
PLOS ONE (2016)
Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism
Rikke K. J. Olsen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Inhibitory Effect of Aqueous Extracts from Marine Sponges on the Activity and Expression of Gelatinases A (MMP-2) and B (MMP-9) in Rat Astrocyte Cultures
Gaetano Di Bari et al.
PLOS ONE (2015)
MITOHORMESIS: PROMOTING HEALTH AND LIFESPAN BY INCREASED LEVELS OF REACTIVE OXYGEN SPECIES (ROS)
Michael Ristow et al.
DOSE-RESPONSE (2014)
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
Sarah C. Gruenert
ORPHANET JOURNAL OF RARE DISEASES (2014)
Alteration of ROS Homeostasis and Decreased Lifespan in S. cerevisiae Elicited by Deletion of the Mitochondrial Translocator FLX1
Teresa Anna Giancaspero et al.
BIOMED RESEARCH INTERNATIONAL (2014)
FAD Synthesis and Degradation in the Nucleus Create a Local Flavin Cofactor Pool
Teresa Anna Giancaspero et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Aging and Calorie Restriction Oppositely Affect Mitochondrial Biogenesis through TFAM Binding at Both Origins of Mitochondrial DNA Replication in Rat Liver
Anna Picca et al.
PLOS ONE (2013)
Silencing of FAD synthase gene in Caenorhabditis elegans upsets protein homeostasis and impacts on complex behavioral patterns
Vania C. Liuzzi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2012)
Glucose increases extracellular [Ca2+] in rat insulinoma (INS-1E) pseudoislets as measured with Ca2+-sensitive microelectrodes
Andrea Gerbino et al.
CELL CALCIUM (2012)
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
Nanna Cornelius et al.
HUMAN MOLECULAR GENETICS (2012)
Bacterial Over-Expression and Purification of the 3′phosphoadenosine 5′phosphosulfate (PAPS) Reductase Domain of Human FAD Synthase: Functional Characterization and Homology Modeling
Angelica Miccolis et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)
Rita Horvath
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
D-MTERF5 is a novel factor modulating transcription in Drosophila mitochondria
Francesco Bruni et al.
MITOCHONDRION (2012)
Fiji: an open-source platform for biological-image analysis
Johannes Schindelin et al.
NATURE METHODS (2012)
Human FAD synthase (isoform 2): a component of the machinery that delivers FAD to apo-flavoproteins
Enza M. Torchetti et al.
FEBS JOURNAL (2011)
Maternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172B
Gladys Ho et al.
HUMAN MUTATION (2011)
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
Annet M. Bosch et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54
Peter Green et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Mitochondrial localization of human FAD synthetase isoform 1
Enza Maria Torchetti et al.
MITOCHONDRION (2010)
Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency A MOLECULAR RATIONALE FOR THE EFFECTS OF RIBOFLAVIN SUPPLEMENTATION
Barbara J. Henriques et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Succinate dehydrogenase flavoprotein subunit expression in Saccharomyces cerevisiae -: involvement of the mitochondrial FAD transporter, Flx1p
Teresa A. Giancaspero et al.
FEBS JOURNAL (2008)
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Rikke K. J. Olsen et al.
BRAIN (2007)
Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase
Carmen Brizio et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)