Related references
Note: Only part of the references are listed.Universal heteroplasmy of human mitochondrial DNA
Brendan A. I. Payne et al.
HUMAN MOLECULAR GENETICS (2013)
Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next
Elizabeth McCormick et al.
NEUROTHERAPEUTICS (2013)
Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
Vanessa Vedrenne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
Alessia Indrieri et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect
Alexandre Janer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis
Woranontee Weraarpachai et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Biogenesis of the cytochrome bc1 complex and role of assembly factors
Pamela M. Smith et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2012)
Mitochondrial DNA nucleoid structure
Daniel F. Bogenhagen
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2012)
Titin mutation segregates with hereditary myopathy with early respiratory failure
Gerald Pfeffer et al.
BRAIN (2012)
Defects in mitochondrial DNA replication and human disease
William C. Copeland
CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY (2012)
PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring
D. M. E. I. Hellebrekers et al.
HUMAN REPRODUCTION UPDATE (2012)
Epigenetics, epidemiology and mitochondrial DNA diseases
Patrick F. Chinnery et al.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2012)
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Tobias B. Haack et al.
JOURNAL OF MEDICAL GENETICS (2012)
Identification of a mutation in LARS as a novel cause of infantile hepatopathy
Jillian P. Casey 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)
Oxidative genome damage and its repair: Implications in aging and neurodegenerative diseases
Muralidhar L. Hegde et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2012)
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy
Alessandro Achilli et al.
PLOS ONE (2012)
Mitochondrial Genomic Analysis of Late Onset Alzheimer's Disease Reveals Protective Haplogroups H6A1A/H6A1B: The Cache County Study on Memory in Aging
Perry G. Ridge et al.
PLOS ONE (2012)
Mitochondrial Fission, Fusion, and Stress
Richard J. Youle et al.
SCIENCE (2012)
Nuclear transfer to prevent maternal transmission of mitochondrial DNA disease
Joanna Poulton et al.
BRITISH MEDICAL JOURNAL (2012)
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
Merei Huigsloot et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
Alexandra Gotz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Why does mitochondrial complex I have so many subunits?
Judy Hirst
BIOCHEMICAL JOURNAL (2011)
A scaffold of accessory subunits links the peripheral arm and the distal proton-pumping module of mitochondrial complex I
Heike Angerer et al.
BIOCHEMICAL JOURNAL (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)
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
Thomas Klopstock et al.
BRAIN (2011)
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease
Saskia J. G. Hoefs et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures
Martin Magner et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2011)
Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System
Sophie Monnot et al.
HUMAN MUTATION (2011)
Exome Sequencing Identifies MRPL3 Mutation in Mitochondrial Cardiomyopathy
Louise Galmiche et al.
HUMAN MUTATION (2011)
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
A. S. Lebre et al.
JOURNAL OF MEDICAL GENETICS (2011)
The implications of mitochondrial DNA copy number regulation during embryogenesis
Phillippa J. Carling et al.
MITOCHONDRION (2011)
Performance comparison of exome DNA sequencing technologies
Michael J. Clark et al.
NATURE BIOTECHNOLOGY (2011)
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
Daniele Ghezzi et al.
NATURE GENETICS (2011)
Inventory control: cytochrome c oxidase assembly regulates mitochondrial translation
David U. Mick et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2011)
Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA
Christian Kukat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
Tyler Mark Pierson et al.
PLOS GENETICS (2011)
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 ε subunit
Johannes A. Mayr et al.
HUMAN MOLECULAR GENETICS (2010)
Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies
Paulien Smits et al.
JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (2010)
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
M. Gerards et al.
JOURNAL OF MEDICAL GENETICS (2010)
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
Lyndsey Craven et al.
NATURE (2010)
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
Tobias B. Haack et al.
NATURE GENETICS (2010)
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Sarah E. Calvo et al.
NATURE GENETICS (2010)
Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease
Aurelia Santoro et al.
PLOS ONE (2010)
Hungry Codons Promote Frameshifting in Human Mitochondrial Ribosomes
Richard Temperley et al.
SCIENCE (2010)
Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene
Eyal Shteyer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Geneenvironment interactions in Leber hereditary optic neuropathy
Matthew Anthony Kirkman et al.
BRAIN (2009)
Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome
Metodi D. Metodiev et al.
CELL METABOLISM (2009)
Ribosome Shifting or Splitting: It Is All Up To the EF-G
Brooke Christian et al.
MOLECULAR CELL (2009)
Mitochondrial DNA Haplogroups Associated with Age-Related Macular Degeneration
Nitin Udar et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
C6ORF66 is an assembly factor of mitochondrial complex
Ann Saada et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency
Daniele Ghezzi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
Ortal Barel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
NDUFA2 complex I mutation leads to Leigh disease
Saskia J. G. Hoefs et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
Valeria Massa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation
Itai Berger et al.
ANNALS OF NEUROLOGY (2008)
Prevalence of mitochondrial DNA disease in adults
Andrew M. Schaefer et al.
ANNALS OF NEUROLOGY (2008)
A mitochondrial protein compendium elucidates complex I disease biology
David J. Pagliarini et al.
CELL (2008)
Progress and prospects: gene therapy for mitochondrial DNA disease
D. S. Kyriakouli et al.
GENE THERAPY (2008)
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Rosa Pello et al.
HUMAN MOLECULAR GENETICS (2008)
What causes mitochondrial DNA deletions in human cells?
Kim J. Krishnan et al.
NATURE GENETICS (2008)
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
Lynsey M. Cree et al.
NATURE GENETICS (2008)
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
A. Saada et al.
JOURNAL OF MEDICAL GENETICS (2007)
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
Lee-Jun C. Wong et al.
HEPATOLOGY (2007)
mtRF1a is a human mitochondrial translation release factor decoding the major termination Codons UAA and UAG
Hamid Reza Soleimanpour-Lichaei et al.
MOLECULAR CELL (2007)
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
Gavin Hudson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease
C. J. R. Dunning et al.
EMBO JOURNAL (2007)
Disorders of nuclear-mitochondrial intergenomic communication
Antonella Spinazzola et al.
BIOSCIENCE REPORTS (2007)
Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or V subunits
Crystel Bonnet et al.
REJUVENATION RESEARCH (2007)
A lethal defect of mitochondrial and peroxisomal fission
Hans R. Waterham et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions
Tanja Taivassalo et al.
BRAIN (2006)
POLG1 mutations associated with progressive encephalopathy in childhood
Gittan Kollberg et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2006)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Rita Horvath et al.
BRAIN (2006)
Systematic identification of human mitochondrial disease genes through integrative genomics
S Calvo et al.
NATURE GENETICS (2006)
MitoP2: the mitochondrial proteome database - now including mouse data
H. Prokisch et al.
NUCLEIC ACIDS RESEARCH (2006)
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
G Hudson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Degenerate mitochondria
M van der Giezen et al.
EMBO REPORTS (2005)
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis:: An autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene
A Zeharia et al.
JOURNAL OF CHILD NEUROLOGY (2005)
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD
A Pyle et al.
ANNALS OF NEUROLOGY (2005)
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
L De Meirleir et al.
JOURNAL OF MEDICAL GENETICS (2004)
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
MJH Coenen et al.
ANNALS OF NEUROLOGY (2004)
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
DM Kirby et al.
JOURNAL OF CLINICAL INVESTIGATION (2004)
Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough
R McFarland et al.
TRENDS IN GENETICS (2004)
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
P Benit et al.
JOURNAL OF MEDICAL GENETICS (2004)
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2004)
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
H Antonicka et al.
HUMAN MOLECULAR GENETICS (2003)
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
D Skladal et al.
BRAIN (2003)
Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity
V McCulloch et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophlic cardiomyopathy and encephalopathy
P Bénit et al.
HUMAN MUTATION (2003)
Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age
FJ Miller et al.
NUCLEIC ACIDS RESEARCH (2003)
Ubiquitin-dependent proteolysis in mammalian spermatogenesis, fertilization, and sperm quality control: Killing three birds with one stone
P Sutovsky
MICROSCOPY RESEARCH AND TECHNIQUE (2003)
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
A Agostino et al.
NEUROLOGY (2003)
Mitochondrial threshold effects
R Rossignol et al.
BIOCHEMICAL JOURNAL (2003)
Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers
IJ Kim et al.
HUMAN GENETICS (2003)
Identification of mammalian mitochondrial translational initiation factor 3 and examination of its role in initiation complex formation with natural mRNAs
EC Koc et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Hereditary paraganglioma target's diverse paraganglia
BE Baysal
JOURNAL OF MEDICAL GENETICS (2002)
A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine
V McCulloch et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution
M Hammarsund et al.
HUMAN GENETICS (2001)
Nuclear genetic defects of oxidative phosphorylation
EA Shoubridge
HUMAN MOLECULAR GENETICS (2001)
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
P de Lonlay et al.
NATURE GENETICS (2001)
Atp11p and Atp12p are assembly factors for the F1-ATPase in human mitochondria
ZG Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
P Bénit et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mitochondrial DNA mutations in human disease
S Dimauro et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Decrease of 3243 A -> G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
S Rahman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
PF Chinnery et al.
TRENDS IN GENETICS (2000)
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects
JV Leonard et al.
LANCET (2000)
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects
JV Leonard et al.
LANCET (2000)