Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy
出版年份 2012 全文链接
标题
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy
作者
关键词
-
出版物
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 109, Issue 16, Pages 6165-6170
出版商
Proceedings of the National Academy of Sciences
发表日期
2012-04-03
DOI
10.1073/pnas.1113987109
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects
- (2011) Manuel Schiff et al. Seminars in Fetal & Neonatal Medicine
- Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
- (2010) Daniele Ghezzi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease
- (2010) Giuseppe Limongelli et al. EUROPEAN JOURNAL OF HEART FAILURE
- Mitochondrial dysfunction in CD4+lymphocytes from stavudine-treated HIV patients
- (2010) Lloyd Einsiedel et al. MITOCHONDRION
- Deciphering the splicing code
- (2010) Yoseph Barash et al. NATURE
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
- (2010) Sarah E Calvo et al. NATURE GENETICS
- Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome
- (2010) A. Quintana et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews
- (2009) Ronen Spiegel et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The pathophysiology of mitochondrial disease as modeled in the mouse
- (2009) D. C. Wallace et al. GENES & DEVELOPMENT
- Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2
- (2009) Hua Yang et al. HUMAN MOLECULAR GENETICS
- A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
- (2008) David J. Pagliarini et al. CELL
- RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype
- (2008) Tina Wenz et al. Cell Metabolism
- Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy
- (2008) Shane E. Kruse et al. Cell Metabolism
- Large-scale gene trapping in C57BL/6N mouse embryonic stem cells
- (2008) G. M. Hansen et al. GENOME RESEARCH
- Estradiol Stimulates Transcription of Nuclear Respiratory Factor-1 and Increases Mitochondrial Biogenesis
- (2007) Kathleen A. Mattingly et al. MOLECULAR ENDOCRINOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started