Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions-Reference-Cited by-同舟云学术

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Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

Published:2019-06-14 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Carreño-Gago Lidia,Blázquez-Bermejo Cora,Díaz-Manera Jordi,Cámara Yolanda,Gallardo Eduard,Martí Ramon,Torres-Torronteras Javier,García-Arumí Elena

Funder

Instituto de Salud Carlos III

Ministerio de Economía, Industria y Competitividad, Gobierno de España

Generalitat de Catalunya

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference31 articles.

1. A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.;Al-Behadili;Nucleic Acids Res.,2018

2. Evidence for a dual functional role of a conserved histidine in RNA.DNA heteroduplex cleavage by human RNase H1.;Alla;FEBS J.,2012

3. Sequence and organization of the human mitochondrial genome.;Anderson;Nature,1981

4. Quantification of mitochondrial DNA copy number: pre-analytical factors.;Andreu;Mitochondrion,2009

5. Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.;Bugiardini;Neurol. Genet.,2017

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation;Biochemical Journal;2024-05-28

2. A pan-cancer analysis of RNASEH1, a potential regulator of the tumor microenvironment;Clinical and Translational Oncology;2023-04-06

3. Nuclear and mitochondrial DNA alterations in pheochromocytomas and paragangliomas, and their potential treatment;Endocrine-Related Cancer;2023-01-01

4. Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion;Nucleic Acids Research;2022-08-10

5. Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions;Frontiers in Genetics;2022-05-31

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