Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 8
Results: 8
Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 706, doi. 10.1093/hmg/ddab074
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- Article
Salvage NAD<sup>+</sup> biosynthetic pathway enzymes moonlight as molecular chaperones to protect against proteotoxicity.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 672, doi. 10.1093/hmg/ddab080
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- Article
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 687, doi. 10.1093/hmg/ddab078
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- Article
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 658, doi. 10.1093/hmg/ddab075
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- Article
Mutant Nmnat1 leads to a retina-specific decrease of NAD<sup>+</sup> accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 644, doi. 10.1093/hmg/ddab070
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- Article
Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 629, doi. 10.1093/hmg/ddab065
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- Article
Imputed gene expression risk scores: a functionally informed component of polygenic risk.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 727, doi. 10.1093/hmg/ddab053
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- Publication type:
- Article
Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 716, doi. 10.1093/hmg/ddab044
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- Article