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。Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber’s hereditary optic neuropathy
Jia-Rong Chen et al.
HUMAN MOLECULAR GENETICS (2023)
Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy
Zhipeng Nie et al.
HUMAN MOLECULAR GENETICS (2023)
Sperm mitochondrial DNA copy numbers in normal and abnormal semen analysis: A systematic review and meta-analysis
Daria Popova et al.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2022)
Development and characterization of cell models harbouring mtDNA deletions for i n vitro study of Pearson syndrome
Carmen Hernandez-Ainsa et al.
DISEASE MODELS & MECHANISMS (2022)
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism
Sebastian Kenvin et al.
HUMAN MOLECULAR GENETICS (2022)
Mitochondrial Retinopathies
Massimo Zeviani et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)
RNA-Based Strategies for Cell Reprogramming toward Pluripotency
Anaelle Bailly et al.
PHARMACEUTICS (2022)
Targeted A-to-G base editing in human mitochondrial DNA with programmable deaminases
Sung-Ik Cho et al.
CELL (2022)
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients
Chao Chen et al.
HUMAN MOLECULAR GENETICS (2022)
Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy
Min Liang et al.
HUMAN MOLECULAR GENETICS (2022)
Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis
Alejandra I. Romero-Morales et al.
DEVELOPMENT (2022)
Modeling of mitochondrial bioenergetics and autophagy impairment in MELAS-mutant iPSC-derived retinal pigment epithelial cells
Sujoy Bhattacharya et al.
STEM CELL RESEARCH & THERAPY (2022)
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy
Alberto Danese et al.
CELL REPORTS (2022)
Mitochondrial signal transduction
Martin Picard et al.
CELL METABOLISM (2022)
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges
Micol Falabella et al.
NATURE REVIEWS NEUROLOGY (2022)
A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism
Feilong Meng et al.
NUCLEIC ACIDS RESEARCH (2022)
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
Ayami Yoshimi et al.
ORPHANET JOURNAL OF RARE DISEASES (2022)
Modulating mitochondrial DNA mutations: factors shaping heteroplasmy in the germ line and somatic cells
Marcos R. Chiaratti et al.
PHARMACOLOGICAL RESEARCH (2022)
Varied Responses to a High m.3243A>G Mutation Load and Respiratory Chain Dysfunction in Patient-Derived Cardiomyocytes
Sanna Ryytty et al.
CELLS (2022)
A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIIe and mitochondrial translation
Feilong Meng et al.
NUCLEIC ACIDS RESEARCH (2021)
Embryo and Its Mitochondria
Pascale May-Panloup et al.
ANTIOXIDANTS (2021)
Quantitative analysis of mitochondrial morphologies in human induced pluripotent stem cells for Leigh syndrome
Fibi Meshrkey et al.
STEM CELL RESEARCH (2021)
Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome
Glen Lester Sequiera et al.
CELLS (2021)
Cell reprogramming shapes the mitochondrial DNA landscape
Wei Wei et al.
NATURE COMMUNICATIONS (2021)
Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy
Juanjuan Zhang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)
Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutations
Hiroki Kobayashi et al.
NATURE CHEMICAL BIOLOGY (2021)
Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches
Nadee Nissanka et al.
EMBO REPORTS (2020)
Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients
Tien-Chun Yang et al.
HUMAN MOLECULAR GENETICS (2020)
Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons
Teresa Galera-Monge et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Organoid cultures of MELAS neural cells reveal hyperactive Notch signaling that impacts neurodevelopment
Winanto et al.
CELL DEATH & DISEASE (2020)
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity
Teun M. Klein Gunnewiek et al.
CELL REPORTS (2020)
Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy
Yanchun Ji et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2020)
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy
Jialing Yu et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Pluripotent Stem Cell-Based Cell Therapy- Promise and Challenges
Shinya Yamanaka
CELL STEM CELL (2020)
A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing
Beverly Y. Mok et al.
NATURE (2020)
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON)
Camille Peron et al.
STEM CELL RESEARCH (2020)
Hypoimmunogenic derivatives of induced pluripotent stem cells evade immune rejection in fully immunocompetent allogeneic recipients
Tobias Deuse et al.
NATURE BIOTECHNOLOGY (2019)
Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming
Marina Villanueva-Paz et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2019)
Defining Human Pluripotency
Atilgan Yilmaz et al.
CELL STEM CELL (2019)
De novo mutations in mitochondrial DNA of iPSCs produce immunogenic neoepitopes in mice and humans
Tobias Deuse et al.
NATURE BIOTECHNOLOGY (2019)
Mitochondrial 3243A > G mutation confers pro-atherogenic and pro-inflammatory properties in MELAS iPS derived endothelial cells
Nicole Min Qian Pek et al.
CELL DEATH & DISEASE (2019)
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy
Yanchun Ji et al.
HUMAN MOLECULAR GENETICS (2019)
Mitochondrial proteins: from biogenesis to functional networks
Nikolaus Pfanner et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease
Dar-Shong Lin et al.
CELLS (2019)
Mitochondrial DNA replication in mammalian cells: overview of the pathway
Maria Falkenberg
MITOCHONDRIAL DISEASES (2018)
Bioactivity and gene expression profiles of hiPSC-generated retinal ganglion cells in MT-ND4 mutated Leber's hereditary optic neuropathy
You-Ren Wu et al.
EXPERIMENTAL CELL RESEARCH (2018)
ATOH1/RFX1/RFX3 transcription factors facilitate the differentiation and characterisation of inner ear hair cell-like cells from patient-specific induced pluripotent stem cells harbouring A8344G mutation of mitochondrial DNA
Yen-Chun Chen et al.
CELL DEATH & DISEASE (2018)
Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs
Yi Yang et al.
PROTEIN & CELL (2018)
Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells
Filippo Zambelli et al.
STEM CELL REPORTS (2018)
Mitochondrial genetic medicine
Douglas C. Wallace
NATURE GENETICS (2018)
Induced pluripotent stem cell technology: a decade of progress
Yanhong Shi et al.
NATURE REVIEWS DRUG DISCOVERY (2017)
Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation
Feilong Meng et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
MtDNA-maintenance defects: syndromes and genes
Carlo Viscomi et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Incomplete penetrance in mitochondrial optic neuropathies
Leonardo Caporali et al.
MITOCHONDRION (2017)
Management of epilepsy in MERRF syndrome
Josef Finsterer et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2017)
Generation of an induced pluripotent stem cell line from a 39-year-old female patient with severe-to-profound non-syndromic sensorineural hearing loss and a A1555G mutation in the mitochondrial MTRNR1 gene
Yu-Hung Hsu et al.
STEM CELL RESEARCH (2017)
Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs
Mutsumi Yokota et al.
CELL DEATH & DISEASE (2017)
TALEN-mediated shift of mitochondrial DNA heteroplasmy in MELAS-iPSCs with m.13513G>A mutation
Naoki Yahata et al.
SCIENTIFIC REPORTS (2017)
Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A>G mitochondrial DNA mutation
Valeria Chichagova et al.
SCIENTIFIC REPORTS (2017)
Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders
Carmen Lorenz et al.
CELL STEM CELL (2017)
Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy
Raymond C. B. Wong et al.
AGING-US (2017)
Leigh syndrome: One disorder, more than 75 monogenic causes
Nicole J. Lake et al.
ANNALS OF NEUROLOGY (2016)
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation
Pingping Jiang et al.
HUMAN MOLECULAR GENETICS (2016)
Choices for Induction of Pluripotency: Recent Developments in Human Induced Pluripotent Stem Cell Reprogramming Strategies
Marinka Brouwer et al.
STEM CELL REVIEWS AND REPORTS (2016)
Choices for Induction of Pluripotency: Recent Developments in Human Induced Pluripotent Stem Cell Reprogramming Strategies
Marinka Brouwer et al.
STEM CELL REVIEWS AND REPORTS (2016)
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs
Eunju Kang et al.
CELL STEM CELL (2016)
Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability
Ester Perales-Clemente et al.
EMBO JOURNAL (2016)
A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction
Meng Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function
Meng Wang et al.
NUCLEIC ACIDS RESEARCH (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)
Iterative Role of Notch Signaling in Spinal Motor Neuron Diversification
G. Christopher Tan et al.
CELL REPORTS (2016)
Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration
Xinde Zheng et al.
ELIFE (2016)
Mitochondrial diseases
Grainne S. Gorman et al.
NATURE REVIEWS DISEASE PRIMERS (2016)
Prevalence of Nuclear and Mitochondrial DNA Mutations Related to Adult Mitochondrial Disease
Grainne S. Gorman et al.
ANNALS OF NEUROLOGY (2015)
Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity
Anna Maria D'Erchia et al.
MITOCHONDRION (2015)
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
Ayman W. El-Hattab et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Metabolic rescue in pluripotent cells from patients with mtDNA disease
Hong Ma et al.
NATURE (2015)
Mutations causing mitochondrial disease: What is new and what challenges remain?
Robert N. Lightowlers et al.
SCIENCE (2015)
A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation
Chao Chen et al.
PROTEIN & CELL (2015)
Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNATrp
Hideyuki Hatakeyama et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2015)
Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy
Pingping Jiang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Making Proteins in the Powerhouse
B. Martin Hallberg et al.
CELL METABOLISM (2014)
A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential
Shasha Gong et al.
NUCLEIC ACIDS RESEARCH (2014)
Efficient Generation of Human iPSCs by a Synthetic Self-Replicative RNA
Naohisa Yoshioka et al.
CELL STEM CELL (2013)
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management
Victoria Nesbitt et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)
Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model
Riikka H. Hamalainen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Pluripotent Stem Cells Induced from Mouse Somatic Cells by Small-Molecule Compounds
Pingping Hou et al.
SCIENCE (2013)
Disease-Causing Mitochondrial Heteroplasmy Segregated Within Induced Pluripotent Stem Cell Clones Derived from a Patient with MELAS
Clifford D. L. Folmes et al.
STEM CELLS (2013)
Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion
Anne B. C. Cherry et al.
STEM CELLS (2013)
Blood Cell-Derived Induced Pluripotent Stem Cells Free of Reprogramming Factors Generated by Sendai Viral Vectors
Lin Ye et al.
STEM CELLS TRANSLATIONAL MEDICINE (2013)
Mitochondria: In Sickness and in Health
Jodi Nunnari et al.
CELL (2012)
Generation of integration-free human induced pluripotent stem cells from postnatal blood mononuclear cells by plasmid vector expression
Sarah N. Dowey et al.
NATURE PROTOCOLS (2012)
Generation of human induced pluripotent stem cells from urine samples
Ting Zhou et al.
NATURE PROTOCOLS (2012)
Highly Efficient miRNA-Mediated Reprogramming of Mouse and Human Somatic Cells to Pluripotency
Frederick Anokye-Danso et al.
CELL STEM CELL (2011)
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
Min-Xin Guan
MITOCHONDRION (2011)
Mitochondrial DNA mutations and human disease
Helen A. L. Tuppen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2010)
Vitamin C Enhances the Generation of Mouse and Human Induced Pluripotent Stem Cells
Miguel Angel Esteban et al.
CELL STEM CELL (2010)
Reprogramming of Human Peripheral Blood Cells to Induced Pluripotent Stem Cells
Judith Staerk et al.
CELL STEM CELL (2010)
Highly Efficient Reprogramming to Pluripotency and Directed Differentiation of Human Cells with Synthetic Modified mRNA
Luigi Warren et al.
CELL STEM CELL (2010)
Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNALeu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes
Ronghua Li et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
Heteroplasmic mitochondrial DNA mutations in normal and tumour cells
Yiping He et al.
NATURE (2010)
Isolation and cultivation of human keratinocytes from skin or plucked hair for the generation of induced pluripotent stem cells
Trond Aasen et al.
NATURE PROTOCOLS (2010)
Butyrate Greatly Enhances Derivation of Human Induced Pluripotent Stem Cells by Promoting Epigenetic Remodeling and the Expression of Pluripotency-Associated Genes
Prashant Mali et al.
STEM CELLS (2010)
Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders
Zhaohui Ye et al.
BLOOD (2009)
Generation of Induced Pluripotent Stem Cells Using Recombinant Proteins
Hongyan Zhou et al.
CELL STEM CELL (2009)
Virus-free induction of pluripotency and subsequent excision of reprogramming factors
Keisuke Kaji et al.
NATURE (2009)
piggyBac transposition reprograms fibroblasts to induced pluripotent stem cells
Knut Woltjen et al.
NATURE (2009)
Human Induced Pluripotent Stem Cells Free of Vector and Transgene Sequences
Junying Yu et al.
SCIENCE (2009)
Adenoviral Gene Delivery Can Reprogram Human Fibroblasts to Induced Pluripotent Stem Cells
Wenbo Zhou et al.
STEM CELLS (2009)
Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes Basic Concepts, Clinical Phenotype, and Therapeutic Management of MELAS Syndrome
Douglas M. Sproule et al.
YEAR IN NEUROLOGY 2008 (2008)
Dissecting direct reprogramming through integrative genomic analysis
Tarjei S. Mikkelsen et al.
NATURE (2008)
Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2
Danwei Huangfu et al.
NATURE BIOTECHNOLOGY (2008)
Induced pluripotent stem cell lines derived from human somatic cells
Junying Yu et al.
SCIENCE (2007)
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
Kazutoshi Takahashi et al.
CELL (2007)
An enhanced MITOMAP with a global mtDNA mutational phylogeny
Eduardo Ruiz-Pesini et al.
NUCLEIC ACIDS RESEARCH (2007)
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
Kazutoshi Takahashi et al.
CELL (2006)
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
Min-Xin Guan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Leber's hereditary optic neuropathy: A multifactorial disease
May-Yung Yen et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2006)
Mitochondria: Dynamic organelles in disease, aging, and development
David C. Chan
CELL (2006)
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation
J Qu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
XM Li et al.
NUCLEIC ACIDS RESEARCH (2004)
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large chinese family
H Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mitochondrial dysfunction as a cause of optic neuropathies
V Carelli et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2004)