Clinical and molecular features of mitochondrial DNA depletion syndromes-Reference-Cited by-同舟云学术

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Clinical and molecular features of mitochondrial DNA depletion syndromes

Published:2008-12-27 Issue:2 Volume:32 Page:143-158
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Spinazzola A.,Invernizzi F.,Carrara F.,Lamantea E.,Donati A.,DiRocco M.,Giordano I.,Meznaric-Petrusa M.,Baruffini E.,Ferrero I.,Zeviani M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-008-1038-z

Reference53 articles.

1. Akman HO, Dorado B, López LC, et al (2008) Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet 17: 2433–2440. doi: 10.1093/hmg/ddn143 .

2. Alberio S, Mineri R, Tiranti V, et al (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7: 6–12. doi: 10.1016/j.mito.2006.11.010 .

3. Ashley N, Adams S, Slama A, et al (2007) Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet 16: 1400–1411. doi: 10.1093/hmg/ddm090 .

4. Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I (2006) Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 15: 2846–2855. doi: 10.1093/hmg/ddl219 .

5. Bornstein B, Area E, Flanigan KM, et al (2008) Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord 18: 453–459. doi: 10.1016/j.nmd.2008.04.006 .

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