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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
target NGS in 42 unrelated infants with clinical and biochemical evidence of mitochondrial oxidative phosphorylation disease suggests that next-generation sequencing may be able to provide a molecular diagnosis for ~25% of currently unsolved cases of infantile mitochondrial disease.
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
The etiology of Leigh syndrome is investigated in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features, and no strong correlation between the clinical features and basic defects is found.
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
This study illustrates how large-scale sequencing, coupled with functional prediction and experimental validation, can be used to identify causal mutations in individual cases.
Understanding mitochondrial complex I assembly in health and disease.
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
Accessory subunits are integral for assembly and function of human mitochondrial complex I
It is shown that 25 subunits are strictly required for assembly of a functional complex and 1 subunit is essential for cell viability, and coupling gene-editing technology with proteomics represents a powerful tool for dissecting large multi-subunit complexes and enables the study of complex dysfunction at a cellular level.
Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I
- M. Lazarou, M. McKenzie, A. Ohtake, D. Thorburn, M. Ryan
- BiologyMolecular and Cellular Biology
- 16 April 2007
A mechanism of complex I biogenesis involving two complementary processes, synthesis of mtDNA-encoded subunits to seed de novo assembly and exchange of preexisting subunits with newly imported ones to maintain complex I homeostasis is pointed to.
Biochemical assays of respiratory chain complex activity.
The treatment of patients with mitochondrial diseases remains a challenge, but guidelines are available to manage the complications of disease and an increasing number of therapeutic options are being considered.