Found: 14
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Nemo-like kinase reduces mutant huntingtin levels and mitigates Huntington's disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1340, doi. 10.1093/hmg/ddaa061
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- Publication type:
- Article
Protein–protein interaction network with machine learning models and multiomics data reveal potential neurodegenerative disease-related proteins.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1378, doi. 10.1093/hmg/ddaa065
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- Publication type:
- Article
Bone morphogenetic protein 1 cleaves the linker region between ligand-binding repeats 4 and 5 of the LDL receptor and makes the LDL receptor non-functional.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1229, doi. 10.1093/hmg/ddz238
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- Article
Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1365, doi. 10.1093/hmg/ddaa068
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- Publication type:
- Article
Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1292, doi. 10.1093/hmg/ddaa043
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- Publication type:
- Article
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1330, doi. 10.1093/hmg/ddaa056
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- Publication type:
- Article
Impaired mitochondrial–endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1353, doi. 10.1093/hmg/ddaa066
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- Publication type:
- Article
A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1396, doi. 10.1093/hmg/ddaa058
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- Publication type:
- Article
Oligodendrocyte dysfunction due to Chd8 mutation gives rise to behavioral deficits in mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1274, doi. 10.1093/hmg/ddaa036
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- Article
Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1253, doi. 10.1093/hmg/ddaa034
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- Publication type:
- Article
Polygenic risk scores for coronary artery disease and subsequent event risk amongst established cases.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1388, doi. 10.1093/hmg/ddaa052
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- Publication type:
- Article
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1310, doi. 10.1093/hmg/ddaa049
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- Publication type:
- Article
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1319, doi. 10.1093/hmg/ddaa047
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- Publication type:
- Article
TET2-mediated Cdkn2A DNA hydroxymethylation in midbrain dopaminergic neuron injury of Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1239, doi. 10.1093/hmg/ddaa022
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- Publication type:
- Article