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Article
Open AccessA library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome
The development of curative treatments for mitochondrial diseases, which are often caused by mutations in mitochondrial DNA (mtDNA) that impair energy metabolism and other aspects of cellular homoeostasis, is ...
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Article
Open AccessTEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutation...
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Article
Open AccessA late-stage assembly checkpoint of the human mitochondrial ribosome large subunit
Many cellular processes, including ribosome biogenesis, are regulated through post-transcriptional RNA modifications. Here, a genome-wide analysis of the human mitochondrial transcriptome shows that 2’-O-methylat...
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Article
Open AccessIn vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue
Mitochondria host key metabolic processes vital for cellular energy provision and are central to cell fate decisions. They are subjected to unique genetic control by both nuclear DNA and their own multi-copy g...
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Protocol
Detection of 5-formylcytosine in Mitochondrial Transcriptome
Posttranscriptional RNA modifications have recently emerged as essential posttranscriptional regulators of gene expression. Here we present two methods for single nucleotide resolution detection of 5-formylcyt...
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Article
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo
Mutations of the mitochondrial genome (mtDNA) underlie a substantial portion of mitochondrial disease burden. These disorders are currently incurable and effectively untreatable, with heterogeneous penetrance,...
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Article
Open AccessDeficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharact...
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Protocol
Engineered mtZFNs for Manipulation of Human Mitochondrial DNA Heteroplasmy
Enrichment of desired mitochondrial DNA (mtDNA) haplotypes, in both experimental systems and the clinic, is an end sought by many. Through use of a designer nuclease platform optimized for delivery to mitochon...
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Article
Open AccessMitochondrial transcript maturation and its disorders
Mitochondrial respiratory chain deficiencies exhibit a wide spectrum of clinical presentations owing to defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused ...
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Article
Human embryonic stem cells commonly display large mitochondrial DNA deletions
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Protocol
Generation of Lung Epithelial-Like Tissue from hESC by Air–Liquid Interface Culture
Human embryonic stem cells (hESCs) have the capacity to differentiate in vivo and in vitro into cells from all three germ lineages. The in vitro generation of lung cells and tissues from hESCs creates opportun...
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Article
Open AccessGeneration of lung epithelial-like tissue from human embryonic stem cells
Human embryonic stem cells (hESC) have the capacity to differentiate in vivo and in vitro into cells from all three germ lineages. The aim of the present study was to investigate the effect of specific culture co...
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Article
Whole-genome multiple displacement amplification from single cells
Multiple displacement amplification (MDA) is a recently described method of whole-genome amplification (WGA) that has proven efficient in the amplification of small amounts of DNA, including DNA from single ce...
