Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
about
Mitochondrial disease in adults: what's old and what's new?Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityEmerging critical roles of Fe-S clusters in DNA replication and repair.Mammalian DNA2 helicase/nuclease cleaves G-quadruplex DNA and is required for telomere integritySyndromic parkinsonism and dementia associated with OPA1 missense mutationsNovel subcellular localization of the DNA helicase Twinkle at the kinetochore complex during mitosis in neuronal-like progenitor cells.Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceInactivation of Pif1 helicase causes a mitochondrial myopathy in miceMitochondrial genome maintenance in health and disease.DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyMolecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.Borrowing nuclear DNA helicases to protect mitochondrial DNA.Spectrum of combined respiratory chain defects.Okazaki fragment maturation involves α-segment error editing by the mammalian FEN1/MutSα functional complex.Yet another job for Dna2: Checkpoint activation.Genetic Regulation of Dna2 Localization During the DNA Damage Response.A Selective Small Molecule DNA2 Inhibitor for Sensitization of Human Cancer Cells to ChemotherapyHuman mitochondrial DNA replication machinery and disease.Genomic analysis of primordial dwarfism reveals novel disease genes.The clinical maze of mitochondrial neurologyNext-generation sequencing for mitochondrial disordersMitochondrial fusion proteins and human diseases.Protecting the mitochondrial powerhouse.Mitochondrial DNA maintenance: an appraisal.Discovery of mutations for Mendelian disorders.The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.DNA2-An Important Player in DNA Damage Response or Just Another DNA Maintenance Protein?Off-Target Effects of Drugs that Disrupt Human Mitochondrial DNA Maintenance.Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.hDNA2 nuclease/helicase promotes centromeric DNA replication and genome stability.Progressive External Ophthalmoplegia.Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseA two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL
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P2860
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
@ast
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
@en
type
label
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
@ast
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
@en
prefLabel
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
@ast
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
@en
P2093
P2860
P50
P1476
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
@en
P2093
Alessio Di Fonzo
Binghui Shen
Changwei Liu
Dario Ronchi
Elisa Fassone
Francesca Magri
Giacomo Pietro Comi
Hongzhi Li
Lorenzo Peverelli
P2860
P304
P356
10.1016/J.AJHG.2012.12.014
P407
P577
2013-01-24T00:00:00Z