Literature DB >> 19596444

Genetic causes of mitochondrial DNA depletion in humans.

Agnès Rötig1, Joanna Poulton.   

Abstract

Mitochondrial DNA (mtDNA) depletion is characterized by a profound reduction of mtDNA copy number. The maintenance of mtDNA copy number requires several nuclear-encoded factors involved in replication and in dNTP supply. In the past decade mutations in several of these factors have been reported in a growing number of syndromes. This article reviews the current knowledge of genes causing mitochondrial DNA depletion syndromes.

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Year:  2009        PMID: 19596444     DOI: 10.1016/j.bbadis.2009.06.009

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  33 in total

1.  A history of mitochondrial diseases.

Authors:  Salvatore Dimauro
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

2.  Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.

Authors:  Aida Font; Frederic Tort; Aleix Navarro-Sastre; Victòria Cusí; Judit García-Villoria; Paz Briones; Antonia Ribes
Journal:  JIMD Rep       Date:  2011-06-22

3.  The Mitochondrial DNA Polymerase Promotes Elimination of Paternal Mitochondrial Genomes.

Authors:  Zhongsheng Yu; Patrick H O'Farrell; Nikita Yakubovich; Steven Z DeLuca
Journal:  Curr Biol       Date:  2017-03-16       Impact factor: 10.834

4.  Mitochondrial DNA 4977 bp deletion is a common phenomenon in hair and increases with age.

Authors:  Yijie Zheng; Xiaofeng Luo; Junfeng Zhu; Xuan Zhang; Yinting Zhu; Huihua Cheng; Zhiqiu Xia; Na Su; Nengpei Zhang; Junyi Zhou
Journal:  Bosn J Basic Med Sci       Date:  2012-08       Impact factor: 3.363

Review 5.  The maintenance of mitochondrial DNA integrity--critical analysis and update.

Authors:  Mikhail Alexeyev; Inna Shokolenko; Glenn Wilson; Susan LeDoux
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-05-01       Impact factor: 10.005

6.  Historical perspective on mitochondrial medicine.

Authors:  Salvatore DiMauro; Caterina Garone
Journal:  Dev Disabil Res Rev       Date:  2010

Review 7.  The awakening of an advanced malignant cancer: an insult to the mitochondrial genome.

Authors:  Cody C Cook; Masahiro Higuchi
Journal:  Biochim Biophys Acta       Date:  2011-09-02

8.  Mitochondrial transcription factor A promotes DNA strand cleavage at abasic sites.

Authors:  Wenyan Xu; Riley M Boyd; Maya O Tree; Faris Samkari; Linlin Zhao
Journal:  Proc Natl Acad Sci U S A       Date:  2019-08-14       Impact factor: 11.205

9.  Association of leukocyte mitochondrial DNA copy number with colorectal cancer risk: Results from the Shanghai Women's Health Study.

Authors:  Bo Huang; Yu-Tang Gao; Xiao-Ou Shu; Wanqing Wen; Gong Yang; Guoliang Li; Regina Courtney; Bu-Tian Ji; Hong-Lan Li; Mark P Purdue; Wei Zheng; Qiuyin Cai
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2014-08-19       Impact factor: 4.254

10.  The "fast" and the "slow" modes of mitochondrial DNA degradation.

Authors:  Inna N Shokolenko; Glenn L Wilson; Mikhail F Alexeyev
Journal:  Mitochondrial DNA A DNA Mapp Seq Anal       Date:  2014-04-14       Impact factor: 1.514

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