Found: 19
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Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1453, doi. 10.1093/hmg/ddt533
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- Publication type:
- Article
The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1019, doi. 10.1093/hmg/ddp566
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- Publication type:
- Article
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
- Published in:
- 2020
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- Publication type:
- journal article
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- 2016
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- Publication type:
- journal article
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 12, p. 3702, doi. 10.1007/s00415-020-10051-x
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- Publication type:
- Article
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
- Published in:
- 2016
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- Publication type:
- journal article
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61735-3
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- Publication type:
- Article
Metformin as an Adjuvant Drug against Pediatric Sarcomas: Hypoxia Limits Therapeutic Effects of the Drug.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083832
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- Publication type:
- Article
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z
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- Publication type:
- Article
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z
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- Publication type:
- Article
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
- Published in:
- 2021
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- Publication type:
- journal article
Preclinical effectiveness of selective inhibitor of IRS-1/2 NT157 in osteosarcoma cell lines.
- Published in:
- Frontiers in Endocrinology, 2015, v. 6, p. 1, doi. 10.3389/fendo.2015.00074
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- Publication type:
- Article
New insights into idebenone therapy in relation to NQO1.
- Published in:
- 2024
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- Publication type:
- Abstract
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.pgen.1007210
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- Publication type:
- Article
Expanding and validating the biomarkers for mitochondrial diseases.
- Published in:
- Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1467, doi. 10.1007/s00109-020-01967-y
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- Publication type:
- Article
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 11, p. 1864, doi. 10.1093/hmg/ddaa014
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- Publication type:
- Article
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1918, doi. 10.1002/ajmg.a.62153
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- Publication type:
- Article
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657317
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- Publication type:
- Article