Found: 33
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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
FBXL4 deficiency increases mitochondrial removal by autophagy.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911659
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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
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1357, doi. 10.1093/brain/awac330
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- Publication type:
- 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
Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives.
- Published in:
- Stem Cells Translational Medicine, 2024, v. 13, n. 6, p. 505, doi. 10.1093/stcltm/szae021
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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
Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 5, p. 426, doi. 10.1002/(SICI)1097-0223(200005)20:5<426::AID-PD845>3.0.CO;2-K
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- Publication type:
- Article
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.
- Published in:
- EMBO Journal, 2012, v. 31, n. 2, p. 443, doi. 10.1038/emboj.2011.392
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- Publication type:
- Article
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
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00707-0
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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
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.
- Published in:
- Nature Communications, 2015, v. 6, n. 11, p. 8808, doi. 10.1038/ncomms9808
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- Publication type:
- Article
Premature ageing in mice expressing defective mitochondrial DNA polymerase.
- Published in:
- Nature, 2004, v. 429, n. 6990, p. 417, doi. 10.1038/nature02517
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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
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.652590
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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
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.
- Published in:
- Biomedicines, 2022, v. 10, n. 12, p. 3171, doi. 10.3390/biomedicines10123171
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- Publication type:
- Article
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 15, p. 8749, doi. 10.1093/nar/gkac661
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- Publication type:
- Article
Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 1, p. 354, doi. 10.1093/nar/gkaa1131
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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
RNA modification landscape of the human mitochondrial tRNA<sup>Lys</sup> regulates protein synthesis.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06471-z
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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
The Bicoid Stability Factor Controls Polyadenylation and Expression of Specific Mitochondrial mRNAs in Drosophila melanogaster.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002324
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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
Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 2, p. 278, doi. 10.1093/hmg/ddn355
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- Publication type:
- Article
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 921, doi. 10.1186/1471-2164-15-1090
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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