Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome-Reference-Cited by-同舟云学术

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Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

Published:2013-12-20 Issue:9 Volume:23 Page:2459-2467
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Cámara Yolanda,González-Vioque Emiliano,Scarpelli Mauro,Torres-Torronteras Javier,Caballero Andrea,Hirano Michio,Martí Ramon

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/9/2459/14143332/ddt641.pdf

Reference24 articles.

1. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion;Bourdon;Nat. Genet.,2007

2. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA;Mandel;Nat. Genet.,2001

3. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy;Saada;Nat. Genet.,2001

4. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder;Nishino;Science,1999

5. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice;Lopez;Hum. Mol. Genet.,2009

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1. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease;Annals of Neurology;2024-09-04

2. Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial;eClinicalMedicine;2024-08

3. Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE;Journal of Translational Medicine;2024-05-13

4. Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes;Journal of Biosciences;2024-02-19

5. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome;Brain Communications;2024

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