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Ka-Yiu Edwin Kong et al.
Nucleic acids research, 42(1), 643-660 (2013-10-08)
Most unwanted RNA transcripts in the nucleus of eukaryotic cells, such as splicing-defective pre-mRNAs and spliced-out introns, are rapidly degraded by the nuclear exosome. In budding yeast, a number of these unwanted RNA transcripts, including spliced-out introns, are first recognized
Gavin Hudson et al.
Archives of neurology, 64(4), 553-557 (2007-04-11)
To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Microsatellite analysis and screening of the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide
Eitan Glick et al.
The Journal of biological chemistry, 278(21), 19341-19346 (2003-03-20)
DNA polymerase eta (Pol eta) is a member of a new class of DNA polymerases that is able to copy DNA containing damaged nucleotides. These polymerases are highly error-prone during copying of unaltered DNA templates. We analyzed the relationship between
Melissa R Marzahn et al.
The Journal of biological chemistry, 289(9), 5537-5548 (2014-01-18)
Clamp loaders belong to a family of proteins known as ATPases associated with various cellular activities (AAA+). These proteins utilize the energy from ATP binding and hydrolysis to perform cellular functions. The clamp loader is required to load the clamp
Mathieu Rousseau-Gueutin et al.
Genetics, 179(4), 2045-2060 (2008-07-29)
Macrosynteny and colinearity between Fragaria (strawberry) species showing extreme levels of ploidy have been studied through comparative genetic mapping between the octoploid cultivated strawberry (F. xananassa) and its diploid relatives. A comprehensive map of the octoploid strawberry, in which almost
Gregory A Farnum et al.
Biochimica et biophysica acta, 1837(7), 1113-1121 (2014-02-11)
We establish the genotype-phenotype correlations for the complete spectrum of POLG syndromes by refining our previously described protocol for mapping pathogenic mutations in the human POLG gene to functional clusters in the catalytic core of the mitochondrial replicase, Pol γ
Hyungjin Kim et al.
Molecular cell, 54(1), 107-118 (2014-03-25)
Timely DNA replication across damaged DNA is critical for maintaining genomic integrity. Translesion DNA synthesis (TLS) allows bypass of DNA lesions using error-prone TLS polymerases. The E3 ligase RAD18 is necessary for proliferating cell nuclear antigen (PCNA) monoubiquitination and TLS
Rana K Daher et al.
Clinical chemistry, 60(4), 660-666 (2014-01-28)
Group B streptococcal infections are the leading cause of sepsis and meningitis in newborns. A rapid and reliable method for the detection of this pathogen at the time of delivery is needed for the early treatment of neonates. Isothermal amplification
Hannah Pope-Varsalona et al.
Nucleic acids research, 42(21), 13096-13109 (2014-10-31)
Telomeres at chromosome ends are normally masked from proteins that signal and repair DNA double strand breaks (DSBs). Bulky DNA lesions can cause DSBs if they block DNA replication, unless they are bypassed by translesion (TLS) DNA polymerases. Here, we
Jesper V Olsen et al.
Science signaling, 3(104), ra3-ra3 (2010-01-14)
Eukaryotic cells replicate by a complex series of evolutionarily conserved events that are tightly regulated at defined stages of the cell division cycle. Progression through this cycle involves a large number of dedicated protein complexes and signaling pathways, and deregulation
Thomas R Burkard et al.
BMC systems biology, 5, 17-17 (2011-01-29)
On the basis of large proteomics datasets measured from seven human cell lines we consider their intersection as an approximation of the human central proteome, which is the set of proteins ubiquitously expressed in all human cells. Composition and properties
Petri T Luoma et al.
Human molecular genetics, 14(14), 1907-1920 (2005-05-27)
Defects of mitochondrial polymerase gamma (POLG) underlie neurological diseases ranging from myopathies to parkinsonism and infantile Alpers syndrome. The most severe manifestations have been associated with mutations of the 'spacer' region of POLG, the function of which has remained unstudied
Sukhvinder Gill et al.
Nucleic acids research, 42(6), 3707-3719 (2014-01-22)
We report the characterization of a DNA primase/polymerase protein (PolpTN2) encoded by the pTN2 plasmid from Thermococcus nautilus. Sequence analysis revealed that this protein corresponds to a fusion between an N-terminal domain homologous to the small catalytic subunit PriS of
J Abbotts et al.
Biochemistry, 27(3), 901-909 (1988-02-09)
The coding region of a human beta-polymerase cDNA, predicting a 335 amino acid protein, was subcloned in the Escherichia coli expression plasmid pRC23. After induction of transformed cells, the crude soluble extract was found to contain a new protein immunoreactive
Jane Grimwood et al.
Nature, 428(6982), 529-535 (2004-04-02)
Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in
C Walowsky et al.
The Journal of biological chemistry, 274(11), 7302-7308 (1999-03-06)
Camptothecin is an antitumor agent that kills cells by converting DNA topoisomerase I into a DNA-damaging poison. Although camptothecin derivatives are now being used to treat tumors in a variety of clinical protocols, the cellular factors that influence sensitivity to
N Lecrenier et al.
Gene, 185(1), 147-152 (1997-01-31)
We report the sequence of a 4.5-kb cDNA clone isolated from a human melanoma library which bears high amino acid sequence identity to the yeast mitochondrial (mt) DNA polymerase (Mip1p). This cDNA contains a 3720-bp open reading frame encoding a
G Van Goethem et al.
Neurology, 61(12), 1811-1813 (2003-12-25)
Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG
V L Gerlach et al.
Proceedings of the National Academy of Sciences of the United States of America, 96(21), 11922-11927 (1999-10-16)
To understand the mechanisms underlying mutagenesis in eukaryotes better, we have cloned mouse and human homologs of the Escherichia coli dinB gene. E. coli dinB encodes DNA polymerase IV and greatly increases spontaneous mutations when overexpressed. The mouse and human
Mineaki Seki et al.
Nucleic acids research, 31(21), 6117-6126 (2003-10-25)
The genomes of eukaryotic cells predict the existence of multiple DNA polymerases, which are proposed to serve specialized roles in DNA replication and repair. We report here the isolation of the full-length human DNA POLQ gene, and an initial characterization
ENZYMATIC SYNTHESIS OF DEOXYRIBONUCLEIC ACID. XIV. FURTHER PURIFICATION AND PROPERTIES OF DEOXYRIBONUCLEIC ACID POLYMERASE OF ESCHERICHIA COLI.
C C RICHARDSON et al.
The Journal of biological chemistry, 239, 222-232 (1964-01-01)
Jamie R Wallen et al.
Biochemistry, 52(23), 4026-4036 (2013-05-17)
Replisomes are multiprotein complexes that coordinate the synthesis of leading and lagging DNA strands to increase the replication efficiency and reduce DNA strand breaks caused by stalling of replication forks. The bacteriophage T7 replisome is an economical machine that requires
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
Gert Van Goethem et al.
Human mutation, 22(2), 175-176 (2003-07-23)
Jessica L Sneeden et al.
Nucleic acids research, 41(9), 4913-4925 (2013-03-29)
The repair of DNA breaks by homologous recombination is a high-fidelity process, necessary for the maintenance of genome integrity. Thus, DNA synthesis associated with recombinational repair must be largely error-free. In this report, we show that human DNA polymerase delta
Toshiki Tsurimoto et al.
Genes to cells : devoted to molecular & cellular mechanisms, 10(1), 13-22 (2005-01-27)
Human WRNIP1, a Werner DNA helicase interacting protein 1, was expressed in insect cells and E. coli. The purified protein behaved as a homo-oligomeric complex with a native molecular mass indicative of an octamer, and the complex copurified with an
Mikhail V Ponamarev et al.
The Journal of biological chemistry, 277(18), 15225-15228 (2002-03-19)
Progressive external ophthalmoplegia (PEO) is a heritable mitochondrial disorder characterized by the accumulation of multiple point mutations and large deletions in mtDNA. Autosomal dominant PEO was recently shown to co-segregate with a heterozygous Y955C mutation in the human gene encoding
Enzymatic synthesis of deoxyribonucleic acid. I. Preparation of substrates and partial purification of an enzyme from Escherichia coli.
I R LEHMAN et al.
The Journal of biological chemistry, 233(1), 163-170 (1958-07-01)
J P McDonald et al.
Genomics, 60(1), 20-30 (1999-08-25)
The Saccharomyces cerevisiae RAD30 gene encodes a novel eukaryotic DNA polymerase, pol eta that is able to replicate across cis-syn cyclobutane pyrimidine dimers both accurately and efficiently. Very recently, a human homolog of RAD30 was identified, mutations in which result
V L Gerlach et al.
The Journal of biological chemistry, 276(1), 92-98 (2000-10-12)
The Escherichia coli dinB gene encodes DNA polymerase (pol) IV, a protein involved in increasing spontaneous mutations in vivo. The protein-coding region of DINB1, the human ortholog of DNA pol IV, was fused to glutathione S-transferase and expressed in insect
Y Murakumo et al.
The Journal of biological chemistry, 275(6), 4391-4397 (2000-02-08)
Widespread alteration of the genomic DNA is a hallmark of tumors, and alteration of genes involved in DNA maintenance have been shown to contribute to the tumorigenic process. The DNA polymerase zeta of Saccharomyces cerevisiae is required for error-prone repair
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