An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene-Reference-Cited by-同舟云学术

An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene

Published:2017-05-19 Issue:7 Volume:136 Page:885-896
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Rodríguez-García María Elena,Cotrina-Vinagre Francisco Javier,Carnicero-Rodríguez Patricia,Martínez-Azorín Francisco^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-017-1812-9/fulltext.html

Reference44 articles.

1. Anderson S et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465. doi: 10.1038/290457a0

2. Attardi G, Schatz G (1988) Biogenesis of mitochondria. Ann Rev Cell Biol 4:289–333. doi: 10.1146/annurev.cb.04.110188.001445

3. Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X (2007) MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene. BMC Med Genet 8:81. doi: 10.1186/1471-2350-8-81

4. Belt PB, Jongmans W, de Wit J, Hoeijmakers JH, van de Putte P, Backendorf C (1991) Efficient cDNA cloning by direct phenotypic correction of a mutant human cell line (HPRT-) using an Epstein-Barr virus-derived cDNA expression vector. Nucleic Acids Res 19:4861–4866. doi: 10.1093/nar/19.18.4861

5. Calabrese C et al (2013) Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cells. Cancer Metab 1:11. doi: 10.1186/2049-3002-1-11

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mitochondrial complex-1 as a therapeutic target for cardiac diseases;Molecular and Cellular Biochemistry;2024-07-20

2. Mitochondrial complex I subunit MT-ND1 mutations affect disease progression;Heliyon;2024-04

3. The Diseased Mitoribosome;FEBS Letters;2020-12-22

4. Abnormal Expression of Mitochondrial Ribosomal Proteins and Their Encoding Genes with Cell Apoptosis and Diseases;International Journal of Molecular Sciences;2020-11-23