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Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.
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- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1630, doi. 10.1093/hmg/ddae104
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- Article
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2178, doi. 10.3390/ijms24032178
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- Article
Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 435, doi. 10.3390/ijms24010435
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- Article
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4524, doi. 10.3390/ijms22094524
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Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 293, doi. 10.3390/ijms22010293
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Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
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- Genes, 2021, v. 12, n. 12, p. 1866, doi. 10.3390/genes12121866
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The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases.
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- Genes, 2021, v. 12, n. 2, p. 300, doi. 10.3390/genes12020300
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- Article
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
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- British Journal of Haematology, 2024, v. 205, n. 1, p. 306, doi. 10.1111/bjh.19567
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- Article
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
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- Human Genetics, 2015, v. 134, n. 8, p. 869, doi. 10.1007/s00439-015-1568-z
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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022
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- Article
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
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- Human Mutation, 2021, v. 42, n. 6, p. 745, doi. 10.1002/humu.24210
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- Article
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae.
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- Human Molecular Genetics, 2024, v. 33, n. 13, p. 1152, doi. 10.1093/hmg/ddae057
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- Article
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
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- Article