Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency-Reference-Cited by-同舟云学术

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

Published:2014-06-26 Issue:8 Volume:6 Page:1016-1027
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Garone Caterina¹²,Garcia‐Diaz Beatriz¹,Emmanuele Valentina¹³,Lopez Luis C⁴,Tadesse Saba¹,Akman Hasan O¹,Tanji Kurenai⁵,Quinzii Catarina M¹,Hirano Michio¹

Affiliation:

1. Department of Neurology Columbia University Medical Center New York NY USA

2. Human Genetics Joint PhD Program University of Bologna and Turin Turin Italy

3. Pediatric Clinic University of Genoa IRCCS G. Gaslini Institute Genoa Italy

4. Instituto de Biotecnología Centro de Investigación Biomédica Universidad de Granada Parque Tecnológico de Ciencias de la Salud Armilla Spain

5. Department of Pathology and Cell Biology Columbia University Medical Center New York NY USA

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.201404092

Reference34 articles.

1. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

2. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

3. Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis

4. In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

5. Defects in mitochondrial DNA replication and human disease

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