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Open AccessAuthor Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
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Open AccessNuclear genetic control of mtDNA copy number and heteroplasmy in humans
Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative phosphorylation1. Heteroplasmy refers to the presence of a mixture of mtDNA alleles in an individual and has bee...
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Open AccessCombinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS
The SLC25 carrier family consists of 53 transporters that shuttle nutrients and co-factors across mitochondrial membranes. The family is highly redundant and their transport activities coupled to metabolic sta...
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Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
Mitochondrial myopathies belong to a larger group of systemic diseases caused by morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be caused by mutations in either the mit...
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Open AccessNext generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compoun...
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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Michal Minczuk, Wolfram Kunz and colleagues report that loss-of-function mutations in MGME1 impair mitochondrial DNA replication and cause a multisystemic mitochondrial disease. Their functional studies show that...
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Open AccessAtypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases ar...
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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Vamsi Mootha and colleagues report high-throughput targeted sequencing of 103 candidate genes in 103 individuals with human mitochondrial complex I deficiency. They identify two genes newly associated with com...
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Sequencing of Aspergillus nidulans and comparative analysis with A. fumigatus and A. oryzae
The aspergilli comprise a diverse group of filamentous fungi spanning over 200 million years of evolution. Here we report the genome sequence of the model organism Aspergillus nidulans, and a comparative study wi...
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Open AccessThe genome sequence of the filamentous fungus Neurospora crassa
Neurospora crassa is a central organism in the history of twentieth-century genetics, biochemistry and molecular biology. Here, we report a high-quality draft sequence of the N. crassa genome. The approximately 4...
