Systematic analysis of a mitochondrial disease‐causing ND6 mutation in mitochondrial deficiency

Germline selection shapes human mitochondrial DNA diversity

(2019) Wei Wei et al.   SCIENCE

mtDNA Haplogroup N9a Increases the Risk of Type 2 Diabetes by Altering Mitochondrial Function and Intracellular Mitochondrial Signals

(2018) Hezhi Fang et al.   DIABETES

Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes

(2018) Alba Signes et al.   Essays in Biochemistry

Mitochondrial Proteostasis in the Context of Cellular and Organismal Health and Aging

(2018) Erica A Moehle et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NADH Shuttling Couples Cytosolic Reductive Carboxylation of Glutamine with Glycolysis in Cells with Mitochondrial Dysfunction

(2018) Edoardo Gaude et al.   MOLECULAR CELL

Oncogenic HSP60 regulates mitochondrial oxidative phosphorylation to support Erk1/2 activation during pancreatic cancer cell growth

(2018) Chao Zhou et al.   Cell Death & Disease

Clonal expansion of mitochondrial DNA deletions is a private mechanism of aging in long-lived animals

(2018) Lakshmi Narayanan Lakshmanan et al.   AGING CELL

Biallelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

(2018) Charlotte L. Alston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prediction and analysis of essential genes using the enrichments of gene ontology and KEGG pathways

(2017) Lei Chen et al.   PLoS One

Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing

(2016) Ana Latorre-Pellicer et al.   NATURE

Lost region in amyloid precursor protein (APP) through TALEN-mediated genome editing alters mitochondrial morphology

(2016) Yajie Wang et al.   Scientific Reports

Mitoenergetic Dysfunction Triggers a Rapid Compensatory Increase in Steady-State Glucose Flux

(2015) Dania C. Liemburg-Apers et al.   BIOPHYSICAL JOURNAL

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

(2015) Pingping Jiang et al.   HUMAN MOLECULAR GENETICS

Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy

(2015) M. Eckenweiler et al.   JOURNAL OF NEUROLOGY

Altered Levels of Mitochondrial DNA Are Associated with Female Age, Aneuploidy, and Provide an Independent Measure of Embryonic Implantation Potential

(2015) Elpida Fragouli et al.   PLoS Genetics

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28

(2015) Gráinne S. Gorman et al.   JAMA Neurology

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

(2014) Yutaka Negishi et al.   JOURNAL OF HUMAN GENETICS

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

(2014) M. Picard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

(2014) Laura C. Greaves et al.   PLoS Genetics

Cytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathies

(2014) Heather M. Wilkins et al.   Redox Biology

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

(2013) Sylvie Bannwarth et al.   JOURNAL OF MEDICAL GENETICS

A Systems Approach for Decoding Mitochondrial Retrograde Signaling Pathways

(2013) S. Chae et al.   Science Signaling

Mitochondrial Biogenesis through Activation of Nuclear Signaling Proteins

(2013) J. E. Dominy et al.   Cold Spring Harbor Perspectives in Biology

Bridging the gap between qualitative and quantitative colocalization results in fluorescence microscopy studies

(2013) Vadim Zinchuk et al.   Scientific Reports

The pathogenicity scoring system for mitochondrial tRNA mutations revisited

(2013) Emiliano González-Vioque et al.   Molecular Genetics & Genomic Medicine

NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain

(2012) Eduardo Balsa et al.   Cell Metabolism

Mitochondrial Complex I Plays an Essential Role in Human Respirasome Assembly

(2012) David Moreno-Lastres et al.   Cell Metabolism

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Juvenile Leigh Syndrome, Optic Atrophy, Ataxia, Dystonia, and Epilepsy due to T14487C Mutation in the mtDNA-ND6 Gene: A Mitochondrial Syndrome Presenting From Birth to Adolescence

(2011) Esther Leshinsky-Silver et al.   JOURNAL OF CHILD NEUROLOGY

Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy

(2011) Nicole J. Van Bergen et al.   PLoS One

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

(2010) Michael V Zaragoza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Nrf2-Antioxidant Response Element Signaling Pathway and Its Activation by Oxidative Stress

(2009) Truyen Nguyen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

(2009) B Dermaut et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Isolation of mitochondria for biogenetical studies: An update

(2009) Erika Fernández-Vizarra et al.   MITOCHONDRION

Extremely Low Penetrance of Leber's Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation

(2009) Jia Qu et al.   OPHTHALMOLOGY

Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation

(2008) Yanli Ji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

(2008) Rosa Pello et al.   HUMAN MOLECULAR GENETICS

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family

(2008) Jing Wang et al.   MOLECULAR GENETICS AND METABOLISM