Literature DB >> 30340744

Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient.

Anshu Sachdev1, Carl Fratter2, Tristan F W McMullan3.   

Abstract

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Year:  2018        PMID： 30340744     DOI： 10.1016/j.jcjo.2018.01.005

Source DB:  PubMed          Journal:  Can J Ophthalmol        ISSN： 0008-4182            Impact factor:   1.882


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  4 in total

1.  Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.

Authors:  Arianna Manini; Leonardo Caporali; Megi Meneri; Simona Zanotti; Daniela Piga; Ignazio Giuseppe Arena; Stefania Corti; Antonio Toscano; Giacomo Pietro Comi; Olimpia Musumeci; Valerio Carelli; Dario Ronchi
Journal:  Front Genet       Date:  2022-05-31       Impact factor: 4.772

2.  A second hybrid-binding domain modulates the activity of Drosophila ribonuclease H1.

Authors:  Jose M González de Cózar; Maria Carretero-Junquera; Grzegorz L Ciesielski; Sini M Miettinen; Markku Varjosalo; Laurie S Kaguni; Eric Dufour; Howard T Jacobs
Journal:  J Biochem       Date:  2020-11-01       Impact factor: 3.387

3.  Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.

Authors:  Jelena Misic; Dusanka Milenkovic; Ali Al-Behadili; Xie Xie; Min Jiang; Shan Jiang; Roberta Filograna; Camilla Koolmeister; Stefan J Siira; Louise Jenninger; Aleksandra Filipovska; Anders R Clausen; Leonardo Caporali; Maria Lucia Valentino; Chiara La Morgia; Valerio Carelli; Thomas J Nicholls; Anna Wredenberg; Maria Falkenberg; Nils-Göran Larsson
Journal:  Nucleic Acids Res       Date:  2022-08-10       Impact factor: 19.160

4.  RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA.

Authors:  Aurelio Reyes; Joanna Rusecka; Katarzyna Tońska; Massimo Zeviani
Journal:  Front Genet       Date:  2020-01-31       Impact factor: 4.772
  4 in total

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