标题
The molecular basis of human complex I deficiency
作者
关键词
-
出版物
IUBMB LIFE
Volume -, Issue -, Pages n/a-n/a
出版商
Wiley
发表日期
2011-07-15
DOI
10.1002/iub.495
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。- The Mitochondrial Proteome and Human Disease
- (2010) Sarah E. Calvo et al. Annual Review of Genomics and Human Genetics
- Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
- (2010) Mike Gerards et al. BRAIN
- Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I
- (2010) Jessica Nouws et al. Cell Metabolism
- FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
- (2010) Elisa Fassone et al. HUMAN MOLECULAR GENETICS
- Assembly factors of human mitochondrial complex I and their defects in disease
- (2010) Matthew Mckenzie et al. IUBMB LIFE
- The architecture of respiratory complex I
- (2010) Rouslan G. Efremov et al. NATURE
- Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
- (2010) Tobias B Haack et al. NATURE GENETICS
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
- (2010) Sarah E Calvo et al. NATURE GENETICS
- Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect
- (2010) M. Herzer et al. NEUROPEDIATRICS
- Functional Modules and Structural Basis of Conformational Coupling in Mitochondrial Complex I
- (2010) C. Hunte et al. SCIENCE
- Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
- (2009) Ann Saada et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease
- (2009) F. Distelmaier et al. BRAIN
- Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
- (2009) M. Gerards et al. JOURNAL OF MEDICAL GENETICS
- Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I
- (2009) A. D. Sheftel et al. MOLECULAR AND CELLULAR BIOLOGY
- Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects
- (2009) Hélène Pagniez-Mammeri et al. MOLECULAR GENETICS AND METABOLISM
- A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
- (2009) Prasanth Potluri et al. MOLECULAR GENETICS AND METABOLISM
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
- C6ORF66 Is an Assembly Factor of Mitochondrial Complex I
- (2008) Ann Saada et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
- (2008) Hannah R. Elliott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease
- (2008) Canny Sugiana et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
- (2008) David J. Pagliarini et al. CELL
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now