Found: 14
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Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
- Published in:
- FASEB Journal, 2013, v. 27, n. 2, p. 612, doi. 10.1096/fj.12-209361
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- Publication type:
- Article
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401
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- Publication type:
- Article
Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 4, p. 640, doi. 10.1002/ana.26185
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- Publication type:
- Article
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.
- Published in:
- 2017
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- Publication type:
- journal article
Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 620, doi. 10.1002/ana.24244
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- Publication type:
- Article
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 1, p. 96, doi. 10.15252/emmm.201606356
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- Publication type:
- Article
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 8, p. 1016, doi. 10.15252/emmm.201404092
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- Publication type:
- Article
Effects of Inhibiting CoQ<sub>10</sub> Biosynthesis with 4-nitrobenzoate in Human Fibroblasts.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030606
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- Publication type:
- Article
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3326, doi. 10.1093/brain/awr245
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- Publication type:
- Article
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3305, doi. 10.1093/hmg/ddy231
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- Publication type:
- Article
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 16, p. 4516, doi. 10.1093/hmg/ddv183
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- Publication type:
- Article
Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 649
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- Publication type:
- Article
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
- Published in:
- 2000
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- Publication type:
- journal article
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
- Published in:
- FEBS Letters, 2007, v. 581, n. 18, p. 3410, doi. 10.1016/j.febslet.2007.06.042
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- Publication type:
- Article