Found: 14
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Preferential binding of ADP‐bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2.
- Published in:
- Protein Science: A Publication of the Protein Society, 2024, v. 33, n. 11, p. 1, doi. 10.1002/pro.5190
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- Article
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 721, doi. 10.1002/emmm.201403943
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- Article
Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 2, p. 849, doi. 10.1093/nar/gkx1231
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- Article
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
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- Nucleic Acids Research, 2011, v. 39, n. 21, p. 9072, doi. 10.1093/nar/gkr618
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- Article
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 225, doi. 10.1002/ajmg.a.37986
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- Article
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1433, doi. 10.1002/ajmg.a.37596
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- Article
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00021
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- Article
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 325, doi. 10.1038/ejhg.2014.128
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- Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
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- Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294
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- Article
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
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- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3352, doi. 10.1093/hmg/ddx221
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- Article
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
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- Human Molecular Genetics, 2017, v. 26, n. 8, p. 1432, doi. 10.1093/hmg/ddx042
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- Article
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
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- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4521, doi. 10.1093/hmg/dds294
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- Article
Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-01859-9
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- Article
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
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- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19743-4
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- Article