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
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 19
Results: 13
1
2
Pharmacological and physiological activation of AMPK improves the spliceopathy in DM1 mouse muscles.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3361, doi. 10.1093/hmg/ddy245
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- Publication type:
- Article
3
A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3417, doi. 10.1093/hmg/ddy254
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- Publication type:
- Article
4
N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3353, doi. 10.1093/hmg/ddy243
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- Publication type:
- Article
5
MyD88 is required for satellite cell-mediated myofiber regeneration in dystrophin-deficient mdx mice.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3449, doi. 10.1093/hmg/ddy258
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- Publication type:
- Article
6
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3377, doi. 10.1093/hmg/ddy246
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- Publication type:
- Article
7
A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3313, doi. 10.1093/hmg/ddy223
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- Publication type:
- Article
8
Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3404, doi. 10.1093/hmg/ddy251
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- Publication type:
- Article
9
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3325, doi. 10.1093/hmg/ddy239
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- Publication type:
- Article
10
Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3464, doi. 10.1093/hmg/ddy257
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- Publication type:
- Article
11
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3392, doi. 10.1093/hmg/ddy248
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- Publication type:
- Article
12
Functional characteristics of novel pancreatic Pax6 regulatory elements.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3434, doi. 10.1093/hmg/ddy255
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- Publication type:
- Article
13
An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3340, doi. 10.1093/hmg/ddy238
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- Publication type:
- Article