Inventaire - your friends and communities are your best library - Inventaire

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

автор

Alessia Nasca

Dario Ronchi

Eleonora Lamantea

Daniele Ghezzi

Massimo Zeviani

Costanza Lamperti

Gigliola Fagiolari

Maurizio Moggio

опубліковано в: American Journal of Human Genetics

дата публікації: 2015-06-18

мова: англійська мова

основна тема: mitochondrial encephalomyopathy

Cites articles 22

Дата

Заголовок

Автори

2014-06-30

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

Thomas J Nicholls, Michał Mińczuk, Gábor Zsurka, Andrzej Dziembowski, Wolfram S. Kunz, Dominik Cysewski, Roman Szczęsny, Maurizio Moggio, Monica Sciacco, Cornelia Kornblum
2013-05-13

A cryptic targeting signal creates a mitochondrial FEN1 isoform with tailed R-Loop binding properties

Ian Holt
2013-04-16

Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts

Ian Holt
2013-01-24

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

Stefania Corti, Nereo Bresolin, Maurizio Moggio, Monica Sciacco, Andreina Bordoni
2013-02

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Thomas Meitinger, Holger Prokisch, Thomas J Nicholls, Joanna Rorbach, Michał Mińczuk, Gábor Zsurka, Dario Ronchi, Wolfram S. Kunz, Giacomo P Comi, Salvatore DiMauro, Maurizio Moggio, Monica Sciacco, Cornelia Kornblum, Tobias B Haack, Katharina Danhauser, Arcangela Iuso, Thomas Wieland, Sarah E Calvo, Vamsi Mootha, Thomas Klopstock, Tim M Strom
2012-12-01

Human mitochondrial DNA replication

Ian Holt
2012-11-09

Evidence for a dual functional role of a conserved histidine in RNA·DNA heteroduplex cleavage by human RNase H1.
2012-03-24

Human C4orf14 interacts with the mitochondrial nucleoid and is involved in the biogenesis of the small mitochondrial ribosomal subunit

Джон Вокер, Ian Holt
2012-01-01

Defects in mitochondrial DNA replication and human disease
2011-12

Involvement of DNA ligase III and ribonuclease H1 in mitochondrial DNA replication in cultured human cells
2010-09-07

An upstream open reading frame and the context of the two AUG codons affect the abundance of mitochondrial and nuclear RNase H1

Yutaka Suzuki, Michał Mińczuk, Ian Holt
2010-02-23

Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

Rachel E Rigby, Johannes N Spelbrink, Ian Holt, Howard Jacobs, Andrew Jackson
2010-12-05

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

David C. Samuels, Wolfram S. Kunz, Rita Horvath, Angela Pyle, Patrick Yu-Wai-Man, Patrick F. Chinnery, Robert William Taylor, Kamil Sitarz
2009-07-01

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk
2009-07-22

The accessory subunit of mitochondrial DNA polymerase gamma determines the DNA content of mitochondrial nucleoids in human cultured cells
2009-02-25

Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA

Joanna Poulton, Ian Holt
2009-01-01

Analysis of mitochondrial DNA by two-dimensional agarose gel electrophoresis.

Ian Holt
2007-04-22

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes

Sjoerd Wanrooij, Jaakko Pohjoismäki, Johannes N Spelbrink
2006-10-26

Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand

Mingyao Yang, Howard Jacobs, Ian Holt
2003-03-01

Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice
2001-04-23

Investigating the structure of human RNase H1 by site-directed mutagenesis.
1998-11-01

Cloning, expression, and mapping of ribonucleases H of human and mouse related to bacterial RNase HI

Стаття - wd:Q34481585

Ласкаво просимо до Inventaire

the library of your friends and communities

докладніше

ви офлайн