(Q34481585)

2 August 2017

title

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

1 reference

mitochondrial encephalomyopathy

2 August 2017

main subject

1 reference

Alessia Nasca

3

0 references

Dario Ronchi

Dario Ronchi

10

0 references

Eleonora Lamantea

Eleonora Lamantea

5

0 references

Daniele Ghezzi

Daniele Ghezzi

14

0 references

Massimo Zeviani

15

Massimo Zeviani

1 reference

2 August 2017

7

Costanza Lamperti

1 reference

2 August 2017

12

Gigliola Fagiolari

1 reference

2 August 2017

13

Maurizio Moggio

1 reference

2 August 2017

Aurelio Reyes

1

1 reference

2 August 2017

Laura Melchionda

2

1 reference

2 August 2017

Franco Carrara

4

1 reference

2 August 2017

Alice Zanolini

6

1 reference

2 August 2017

Mingyan Fang

8

1 reference

2 August 2017

Jianguo Zhang

9

1 reference

2 August 2017

Sara Bonato

11

1 reference

2 August 2017

language of work or name

English

0 references

publication date

18 June 2015

1 reference

American Journal of Human Genetics

2 August 2017

published in

1 reference

2 August 2017

volume

97

1 reference

2 August 2017

issue

1

1 reference

2 August 2017

page(s)

186-193

1 reference

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

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Human mitochondrial DNA replication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Defects in mitochondrial DNA replication and human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Involvement of DNA ligase III and ribonuclease H1 in mitochondrial DNA replication in cultured human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Analysis of mitochondrial DNA by two-dimensional agarose gel electrophoresis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

Investigating the structure of human RNase H1 by site-directed mutagenesis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572567

10.1016/J.AJHG.2015.05.013

27 October 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference