Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

A novel de novo dominant negative mutation inDNM1Limpairs mitochondrial fission and presents as childhood epileptic encephalopathy

(2016) Jill A. Fahrner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

(2016) Joni Nikkanen et al.   Cell Metabolism

Human mitochondrial DNA replication machinery and disease

(2016) Matthew J Young et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

OPA1 processing in cell death and disease – the long and short of it

(2016) Thomas MacVicar et al.   JOURNAL OF CELL SCIENCE

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

(2016) Grace Yoon et al.   JOURNAL OF PEDIATRICS

Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging

(2016) Arumugam Paramasivam et al.   MITOCHONDRION

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

(2016) Ashlee R. Stiles et al.   MOLECULAR GENETICS AND METABOLISM

MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication

(2016) Jay P. Uhler et al.   NUCLEIC ACIDS RESEARCH

POLRMT regulates the switch between replication primer formation and gene expression of mammalian mtDNA

(2016) I. Ku hl et al.   Science Advances

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

(2015) Aurelio Reyes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer

(2015) Katarzyna Linkowska et al.   ANNALS OF HUMAN GENETICS

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Structural models of mammalian mitochondrial transcription factor B2

(2015) Ibrahim M. Moustafa et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Mitochondrial DNA: A disposable genome?

(2015) Inna N. Shokolenko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicase

(2015) M. R. Szymanski et al.   EMBO JOURNAL

Evolution of the Metazoan Mitochondrial Replicase

(2015) Marcos T. Oliveira et al.   Genome Biology and Evolution

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

(2015) Naghia Ahmed et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Human Mitochondrial DNA Depletion Syndrome GeneMPV17Encodes a Non-selective Channel That Modulates Membrane Potential

(2015) Vasily D. Antonenkov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Regulation of mitochondrial biogenesis through TFAM–mitochondrial DNA interactions

(2015) Anna Picca et al.   MITOCHONDRION

Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases

(2015) Yaxin Liu et al.   MOLECULAR BIOLOGY OF THE CELL

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

(2015) Y. Camara et al.   NEUROLOGY

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

TEFM is a potent stimulator of mitochondrial transcription elongation in vitro

(2015) Viktor Posse et al.   NUCLEIC ACIDS RESEARCH

Mitofusin 2 ablation increases endoplasmic reticulum–mitochondria coupling

(2015) Riccardo Filadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

Protecting the mitochondrial powerhouse

(2015) Morten Scheibye-Knudsen et al.   TRENDS IN CELL BIOLOGY

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

(2014) Thomas J. Nicholls et al.   HUMAN MOLECULAR GENETICS

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

(2013) Dario Ronchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Replicating animal mitochondrial DNA

(2013) Emily A. McKinney et al.   GENETICS AND MOLECULAR BIOLOGY

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

(2013) D. Milenkovic et al.   HUMAN MOLECULAR GENETICS

Next generation molecular diagnosis of mitochondrial disorders

(2013) Lee-Jun C. Wong   MITOCHONDRION

Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission

(2013) Oliver C. Losón et al.   MOLECULAR BIOLOGY OF THE CELL

PrimPol, an Archaic Primase/Polymerase Operating in Human Cells

(2013) Sara García-Gómez et al.   MOLECULAR CELL

TK2 mutation presenting as indolent myopathy

(2013) C. Paradas et al.   NEUROLOGY

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

(2012) Stefan Vielhaber et al.   ACTA NEUROPATHOLOGICA

Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number

(2012) Christopher T. Campbell et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

Adult cases of mitochondrial DNA depletion due to TK2 defect: An expanding spectrum

(2012) A. Behin et al.   NEUROLOGY

Transcription from the second heavy-strand promoter of human mtDNA is repressed by transcription factor A in vitro

(2012) M. F. Lodeiro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells

(2012) G. Pontarin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Mitochondrial DNA Replication

(2012) I. J. Holt et al.   Cold Spring Harbor Perspectives in Biology

Residential segregation, geographic proximity and type of services used: Evidence for racial/ethnic disparities in mental health

(2012) Gniesha Y. Dinwiddie et al.   SOCIAL SCIENCE & MEDICINE

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria

(2011) H. Kawamata et al.   HUMAN MOLECULAR GENETICS

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

TEFM (c17orf42) is necessary for transcription of human mtDNA

(2011) Michal Minczuk et al.   NUCLEIC ACIDS RESEARCH

ER Tubules Mark Sites of Mitochondrial Division

(2011) J. R. Friedman et al.   SCIENCE

Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation

(2010) Heini Ruhanen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

Human Mitochondrial Transcription Revisited

(2010) Dmitry Litonin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial DNA depletion syndromes – Many genes, common mechanisms

(2010) Anu Suomalainen et al.   NEUROMUSCULAR DISORDERS

Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations

(2009) Young-Sam Lee et al.   CELL

The dual role of thymidine phosphorylase in cancer development and chemotherapy

(2009) Annelies Bronckaers et al.   MEDICINAL RESEARCH REVIEWS

The accessory subunit of mitochondrial DNA polymerase γ determines the DNA content of mitochondrial nucleoids in human cultured cells

(2009) M. Di Re et al.   NUCLEIC ACIDS RESEARCH

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

(2008) Steffi Goffart et al.   HUMAN MOLECULAR GENETICS

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS