Found: 7
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A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473
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- Article
Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004620
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- Article
Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations.
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- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003082
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- Article
Quantitative Glucose and ATP Sensing in Mammalian Cells.
- Published in:
- Pharmaceutical Research, 2011, v. 28, n. 11, p. 2745, doi. 10.1007/s11095-011-0492-8
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- Article
Cellular and animal models for mitochondrial complex I deficiency: A focus on the NDUFS4 subunit.
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- IUBMB Life, 2013, v. 65, n. 3, p. 202, doi. 10.1002/iub.1127
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- Article
Mitochondrial DNA mutations affect calcium handling in differentiated neurons.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 787, doi. 10.1093/brain/awq023
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- Article
Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts.
- Published in:
- Aging Cell, 2010, v. 9, n. 1, p. 96, doi. 10.1111/j.1474-9726.2009.00531.x
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- Article