Related references
Note: Only part of the references are listed.STAMP: a multiplex sequencing method for simultaneous evaluation of mitochondrial DNA heteroplasmies and content
Xiaoxian Guo et al.
NAR GENOMICS AND BIOINFORMATICS (2020)
Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics
Leif S. Ludwig et al.
CELL (2019)
Clinical and neuroimaging features of the m.10197G > A mtDNA mutation: New case reports and expansion of the phenotype variability
D. Tolomeo et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)
Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy
Piotr K. Kopinski et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset
Jong-Min Lee et al.
CELL (2019)
The Cellular Mitochondrial Genome Landscape in Diesease
Anne Hahn et al.
TRENDS IN CELL BIOLOGY (2019)
Mitophagy and Quality Control Mechanisms in Mitochondrial Maintenance
Sarah Pickles et al.
CURRENT BIOLOGY (2018)
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
John P. Grady et al.
EMBO MOLECULAR MEDICINE (2018)
Striatal neurons directly converted from Huntington's disease patient fibroblasts recapitulate age-associated disease phenotypes
Matheus B. Victor et al.
NATURE NEUROSCIENCE (2018)
Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality
Gregory J. Tranah et al.
SCIENTIFIC REPORTS (2018)
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset
Sarah L. Gardiner et al.
NEUROLOGY-GENETICS (2018)
The chicken or the egg: mitochondrial dysfunction as a cause or consequence of toxicity in Huntington's disease
Aris A. Polyzos et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2017)
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease
Davina J. Hensman Moss et al.
SCIENTIFIC REPORTS (2017)
Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP
Sanjay Sonney et al.
PLOS COMPUTATIONAL BIOLOGY (2017)
Independent impacts of aging on mitochondrial DNA quantity and quality in humans
Ruoyu Zhang et al.
BMC GENOMICS (2017)
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)
The Mitochondrial Basis of Aging
Nuo Sun et al.
MOLECULAR CELL (2016)
Mitochondrial dynamics and quality control in Huntington's disease
Pedro Guedes-Dias et al.
NEUROBIOLOGY OF DISEASE (2016)
PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations
Abhishek Niroula et al.
NUCLEIC ACIDS RESEARCH (2016)
HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing
Hansi Weissensteiner et al.
NUCLEIC ACIDS RESEARCH (2016)
VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington's disease
Xing Guo et al.
NATURE COMMUNICATIONS (2016)
HDAC6 inhibition induces mitochondrial fusion, autophagic flux and reduces diffuse mutant huntingtin in striatal neurons
Pedro Guedes-Dias et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)
Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease
Jong-Min Lee et al.
CELL (2015)
Impaired GAPDH-induced mitophagy contributes to the pathology of Huntington's disease
Sunhee Hwang et al.
EMBO MOLECULAR MEDICINE (2015)
Altered lysosomal positioning affects lysosomal functions in a cellular model of Huntington's disease
Christine Erie et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2015)
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
James B. Stewart et al.
NATURE REVIEWS GENETICS (2015)
High burden and pervasive positive selection of somatic mutations in normal human skin
Inigo Martincorena et al.
SCIENCE (2015)
PINK1-induced mitophagy promotes neuroprotection in Huntington's disease
B. Khalil et al.
CELL DEATH & DISEASE (2015)
PGC-1α modulates denervation-induced mitophagy in skeletal muscle
Anna Vainshtein et al.
SKELETAL MUSCLE (2015)
Disturbed mitochondrial dynamics and neurodegenerative disorders
Florence Burte et al.
NATURE REVIEWS NEUROLOGY (2015)
A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort
Patrick Weydt et al.
BMC NEUROLOGY (2014)
Mitochondrial form and function
Jonathan R. Friedman et al.
NATURE (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Huntington disease: natural history, biomarkers and prospects for therapeutics
Christopher A. Ross et al.
NATURE REVIEWS NEUROLOGY (2014)
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2014)
Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals
Kaixiong Ye et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Potential function for the Huntingtin protein as a scaffold for selective autophagy
Joseph Ochaba et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming
Martin Picard et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing
Laura C. Greaves et al.
PLOS GENETICS (2014)
Dysregulation of Mitochondrial Calcium Signaling and Superoxide Flashes Cause Mitochondrial Genomic DNA Damage in Huntington Disease
Jiu-Qiang Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Inhibition of mitochondrial fragmentation diminishes Huntington's disease-associated neurodegeneration
Xing Guo et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease
Douglas C. Wallace et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage
Scott R. Kennedy et al.
PLOS GENETICS (2013)
Recurrent Tissue-Specific mtDNA Mutations Are Common in Humans
David C. Samuels et al.
PLOS GENETICS (2013)
Somatic mtDNA Mutation Spectra in the Aging Human Putamen
Sion L. Williams et al.
PLOS GENETICS (2013)
Antioxidants in Huntington's disease
Ashu Johri et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease
Ulziibat P. Shirendeb et al.
HUMAN MOLECULAR GENETICS (2012)
A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset
Selma M. Soyal et al.
HUMAN MOLECULAR GENETICS (2012)
Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models
Fanny Mochel et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
HmtDB, a genomic resource for mitochondrion-based human variability studies
Francesco Rubino et al.
NUCLEIC ACIDS RESEARCH (2012)
Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease
Hong Van B. Che et al.
MOLECULAR NEURODEGENERATION (2011)
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
Brendan A. I. Payne et al.
NATURE GENETICS (2011)
Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity
Wenjun Song et al.
NATURE MEDICINE (2011)
Huntington's disease and striatal signaling
Emmanuel Roze et al.
FRONTIERS IN NEUROANATOMY (2011)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease
Jinho Kim et al.
HUMAN MOLECULAR GENETICS (2010)
Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease
Marta Martinez-Vicente et al.
NATURE NEUROSCIENCE (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Automated inference of molecular mechanisms of disease from amino acid substitutions
Biao Li et al.
BIOINFORMATICS (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice
Daniel Edgar et al.
CELL METABOLISM (2009)
Beyond the brain: widespread pathology in Huntington's disease
Jorien M. M. van der Burg et al.
LANCET NEUROLOGY (2009)
PGC-1α:: a key regulator of energy metabolism
Huiyun Liang et al.
ADVANCES IN PHYSIOLOGY EDUCATION (2006)
Transcriptional repression of PGC-α by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration
Libin Cui et al.
CELL (2006)
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism
IS Seong et al.
HUMAN MOLECULAR GENETICS (2005)
Premature ageing in mice expressing defective mitochondrial DNA polymerase
A Trifunovic et al.
NATURE (2004)
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines
AV Panov et al.
NATURE NEUROSCIENCE (2002)