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。Recent advances in understanding the molecular genetic basis of mitochondrial disease
Kyle Thompson et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Anabolic SIRT4 Exerts Retrograde Control over TORC1 Signaling by Glutamine Sparing in the Mitochondria
Eisha Shaw et al.
MOLECULAR AND CELLULAR BIOLOGY (2020)
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
Charlotte L. Alston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
DNA damage response and resistance of cancer stem cells
Etna Abad et al.
CANCER LETTERS (2020)
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
Albert Z. Lim et al.
NEUROMUSCULAR DISORDERS (2020)
DNA damage and mitochondria in cancer and aging
Jaimin Patel et al.
CARCINOGENESIS (2020)
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines
Isabella Barcelos et al.
CURRENT OPINION IN PEDIATRICS (2020)
Loss of Hepatic Oscillatory Fed microRNAs Abrogates Refed Transition and Causes Liver Dysfunctions
Babukrishna Maniyadath et al.
CELL REPORTS (2019)
Serotonin regulates mitochondrial biogenesis and function in rodent cortical neurons via the 5-HT2A receptor and SIRT1-PGC-1α axis
Sashaina E. Fanibunda et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
A novel pathogenic m.4412G > A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
Albert Z. Lim et al.
MITOCHONDRION (2019)
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy
Arijit Ghosh et al.
SCIENCE ADVANCES (2019)
Aggregation of Respiratory Complex Subunits Marks the Onset of Proteotoxicity in Proteasome Inhibited Cells
Shivali Rawat et al.
JOURNAL OF MOLECULAR BIOLOGY (2019)
RAD51C/XRCC3 Facilitates Mitochondrial DNA Replication and Maintains Integrity of the Mitochondrial Genome
Anup Mishra et al.
MOLECULAR AND CELLULAR BIOLOGY (2018)
A novel complex neurological phenotype due to a homozygous mutation in FDX2
Juliana Gurgel-Giannetti et al.
BRAIN (2018)
Mitochondrial disease patient motivations and barriers to participate in clinical trials
Zarazuela Zolkipli-Cunningham et al.
PLOS ONE (2018)
Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome
Yu-Ting Wu et al.
STEM CELL RESEARCH (2018)
Rev1 contributes to proper mitochondrial function via the PARP-NAD+-SIRT1-PGC1α axis (vol 7, 2017)
Nima Borhan Fakouri et al.
SCIENTIFIC REPORTS (2018)
Mitochondrial metabolism and cancer
Paolo Ettore Porporato et al.
CELL RESEARCH (2018)
Chemoresistance of Cancer Cells: Requirements of Tumor Microenvironment-mimicking In Vitro Models in Anti-Cancer Drug Development
Yeonho Jo et al.
THERANOSTICS (2018)
The genetics and pathology of mitochondrial disease
Charlotte L. Alston et al.
JOURNAL OF PATHOLOGY (2017)
Epigenetic modification of miR-663 controls mitochondria-to-nucleus retrograde signaling and tumor progression
Trevor Carden et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
Andrea Legati et al.
JOURNAL OF MEDICAL GENETICS (2017)
Ageing and hypoxia cause protein aggregation in mitochondria
Daniel M. Kaufman et al.
CELL DEATH AND DIFFERENTIATION (2017)
Non-coding RNAs: the dark side of nuclear-mitochondrial communication
Roberto Vendramin et al.
EMBO JOURNAL (2017)
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
Lishuang Shen et al.
HUMAN MUTATION (2016)
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function
Brendan J. Floyd et al.
MOLECULAR CELL (2016)
Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome
Shih-Jie Chou et al.
SCIENTIFIC REPORTS (2016)
Emerging therapies in Friedreich's ataxia
Tanya V. Aranca et al.
NEURODEGENERATIVE DISEASE MANAGEMENT (2016)
Defective mitochondrial respiration, altered dNTP pools and reduced AP endonuclease 1 activity in peripheral blood mononuclear cells of Alzheimer's disease patients
Scott Maynard et al.
AGING-US (2015)
Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans
Shana McCormack et al.
MITOCHONDRION (2015)
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
Marni J. Falk et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
Ronen Spiegel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
A national perspective on prenatal testing for rnitochondrial disease
Victoria Nesbitt et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction
Zhe Zhang et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2014)
Mitochondrial form and function
Jonathan R. Friedman et al.
NATURE (2014)
Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency
Sali M. K. Farhan et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2014)
Mutations in LYRM4, encoding ironsulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
Sze Chern Lim et al.
HUMAN MOLECULAR GENETICS (2013)
The clinical maze of mitochondrial neurology
Salvatore DiMauro et al.
NATURE REVIEWS NEUROLOGY (2013)
Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next
Elizabeth McCormick et al.
NEUROTHERAPEUTICS (2013)
AMPK-mediated increase of glycolysis as an adaptive response to oxidative stress in human cells: Implication of the cell survival in mitochondrial diseases
Shi-Bei Wu et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome
Diego Martinelli et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
Arnulf H. Koeppen
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
Clinical manifestation and a new ISCU mutation in ironsulphur cluster deficiency myopathy
Gittan Kollberg et al.
BRAIN (2009)
A modern approach to the treatment of mitochondrial disease
Sumit Parikh et al.
CURRENT TREATMENT OPTIONS IN NEUROLOGY (2009)
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
Fanny Mochel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
分享论文
