Found: 26
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ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33368-9
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- Publication type:
- Article
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
- Published in:
- 2017
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- Publication type:
- journal article
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.pgen.1008240
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- Publication type:
- Article
Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 19, p. 9262, doi. 10.1093/nar/gkv804
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- Publication type:
- Article
SUV3 helicase is required for correct processing of mitochondrial transcripts.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 15, p. 7398, doi. 10.1093/nar/gkv692
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- Publication type:
- Article
No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 2, p. 1111, doi. 10.1093/nar/gkt969
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- Publication type:
- Article
Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 19, p. 6577, doi. 10.1093/nar/gkq527
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- Publication type:
- Article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
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- Publication type:
- Article
Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1282, doi. 10.1038/ng.2427
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- Publication type:
- Article
Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease.
- Published in:
- 2008
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- Publication type:
- research
Metabolic regulation of neurodifferentiation in the adult brain.
- Published in:
- Cellular & Molecular Life Sciences, 2020, v. 77, n. 13, p. 2483, doi. 10.1007/s00018-019-03430-9
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- Publication type:
- Article
The molecular machinery for maturation of primary mtDNA transcripts.
- Published in:
- Human Molecular Genetics, 2024, v. 33, p. R19, doi. 10.1093/hmg/ddae023
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- Publication type:
- Article
Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.654
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- Publication type:
- Article
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 12, p. 2049, doi. 10.1093/hmg/ddac002
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- Publication type:
- Article
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2515, doi. 10.1093/hmg/ddx146
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- Publication type:
- Article
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6580, doi. 10.1093/hmg/ddv361
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- Publication type:
- Article
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 10, p. 1983, doi. 10.1093/hmg/ddt051
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- Publication type:
- Article
Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA.
- Published in:
- PLoS Biology, 2008, v. 6, n. 1, p. e10, doi. 10.1371/journal.pbio.0060010
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- Publication type:
- Article
Germline mitochondrial DNA mutations aggravate ageing and can impair brain development.
- Published in:
- Nature, 2013, v. 501, n. 7467, p. 412, doi. 10.1038/nature12474
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- Publication type:
- Article
C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 17, p. 9386, doi. 10.1093/nar/gkz684
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- Publication type:
- Article
MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003178
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- Publication type:
- Article
Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 3, p. 1, doi. 10.1371/journal.pgen.1002028
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- Publication type:
- Article
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1611838
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- Publication type:
- Article
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 378, doi. 10.1002/humu.24173
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- Publication type:
- Article
Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate.
- Published in:
- 2019
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- Publication type:
- journal article
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006028
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- Publication type:
- Article