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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
View on Elsevier
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
TLDR
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.
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Leigh syndrome: Clinical features and biochemical and DNA abnormalities
TLDR
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.
View on Wiley
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
TLDR
This study illustrates how large-scale sequencing, coupled with functional prediction and experimental validation, can be used to identify causal mutations in individual cases.
View on Nature
Understanding mitochondrial complex I assembly in health and disease.
View on PubMed
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
View on PubMed
Accessory subunits are integral for assembly and function of human mitochondrial complex I
TLDR
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.
View on Nature
Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I
TLDR
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.
View on ASMUSA
Biochemical assays of respiratory chain complex activity.
View on PubMed
Mitochondrial diseases
TLDR
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.
View on Nature
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