Literature DB >> 24423689

Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

Taner Sezer1, Figen Ozçay2, Oya Balci2, Füsun Alehan3.   

Abstract

Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG.
© The Author(s) 2014.

Entities:  

Keywords:  DGUOK mutation; hepatocerebral form; mtDNA depletion syndrome

Mesh：

Substances：

Year:  2014        PMID： 24423689     DOI： 10.1177/0883073813517000

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  4 in total

1.  A Combined Model of Human iPSC-Derived Liver Organoids and Hepatocytes Reveals Ferroptosis in DGUOK Mutant mtDNA Depletion Syndrome.

Authors:  Jingyi Guo; Lifan Duan; Xueying He; Shengbiao Li; Yi Wu; Ge Xiang; Feixiang Bao; Liang Yang; Hongyan Shi; Mi Gao; Lingjun Zheng; Huili Hu; Xingguo Liu
Journal:  Adv Sci (Weinh)       Date:  2021-03-08       Impact factor: 16.806

2.  A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Authors:  Weiyuan Fang; Peng Song; Xinbao Xie; Jianshe Wang; Yi Lu; Gang Li; Kuerbanjiang Abuduxikuer
Journal:  Oncotarget       Date:  2017-09-15

3.  A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome.

Authors:  Ran Jing; James L Corbett; Jun Cai; Gyda C Beeson; Craig C Beeson; Sherine S Chan; David P Dimmock; Lynn Lazcares; Aron M Geurts; John J Lemasters; Stephen A Duncan
Journal:  Cell Rep       Date:  2018-11-06       Impact factor: 9.423

4.  Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.

Authors:  Ghazale Mahjoub; Parham Habibzadeh; Hassan Dastsooz; Malihe Mirzaei; Arghavan Kavosi; Laila Jamali; Haniyeh Javanmardi; Pegah Katibeh; Mohammad Ali Faghihi; Seyed Alireza Dastgheib
Journal:  BMC Med Genet       Date:  2019-10-29       Impact factor: 2.103
  4 in total

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