Found: 22
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The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 303, doi. 10.3390/ijms24010303
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- Publication type:
- Article
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
- Published in:
- 2022
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- Publication type:
- Editorial
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
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- Publication type:
- Article
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 430, doi. 10.1093/hmg/ddab050
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- Publication type:
- Article
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82319-9
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- Publication type:
- Article
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1481
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- Publication type:
- Article
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3032, doi. 10.1093/hmg/ddaa194
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- Publication type:
- Article
Regulating the human HECT E3 ligases.
- Published in:
- Cellular & Molecular Life Sciences, 2018, v. 75, n. 17, p. 3121, doi. 10.1007/s00018-018-2848-2
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- Publication type:
- Article
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 11, p. 2034, doi. 10.1093/hmg/ddx089
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- Publication type:
- Article
Contribution of Fdh3 and Glr1 to Glutathione Redox State, Stress Adaptation and Virulence in Candida albicans.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0126940
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- Publication type:
- Article
Evolution of the SH3 Domain Specificity Landscape in Yeasts.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129229
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- Publication type:
- Article
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2069, doi. 10.1172/JCI80554
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- Publication type:
- Article
A disulphide bond in the E2 enzyme Pex4p modulates ubiquitin-conjugating activity.
- Published in:
- Scientific Reports, 2013, p. 1, doi. 10.1038/srep02212
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- Publication type:
- Article
Insights into ubiquitin-conjugating enzyme/ co-activator interactions from the structure of the Pex4p:Pex22p complex.
- Published in:
- EMBO Journal, 2012, v. 31, n. 2, p. 391, doi. 10.1038/emboj.2011.411
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- Publication type:
- Article
The Peroxisomal Targeting Signal 1 in sterol carrier protein 2 is autonomous and essential for receptor recognition.
- Published in:
- BMC Biochemistry, 2011, v. 12, n. 1, p. 12, doi. 10.1186/1471-2091-12-12
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- Publication type:
- Article
Enzymology of the carnitine biosynthesis pathway.
- Published in:
- IUBMB Life, 2010, v. 62, n. 5, p. 357, doi. 10.1002/iub.323
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- Publication type:
- Article
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.
- Published in:
- FASEB Journal, 2009, v. 23, n. 8, p. 2349, doi. 10.1096/fj.08-127985
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- Publication type:
- Article
Role of the α-glucanase Agn2p in ascus-wall endolysis following sporulation in fission yeast.
- Published in:
- Yeast, 2007, v. 24, n. 4, p. 279, doi. 10.1002/yea.1464
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- Publication type:
- Article
Saccharomyces cerevisiae Pex14p contains two independent Pex5p binding sites, which are both essential for PTS1 protein import
- Published in:
- FEBS Letters, 2005, v. 579, n. 16, p. 3416, doi. 10.1016/j.febslet.2005.05.011
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- Publication type:
- Article
The peroxisomal membrane protein Pex13p shows a novel mode of SH3 interaction.
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- EMBO Journal, 2000, v. 19, n. 23, p. 6382, doi. 10.1093/emboj/19.23.6382
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- Publication type:
- Article
Saccharomyces cerevisiae Pex3p and Pex19p are required for proper localization and stability of peroxisomal membrane proteins.
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- EMBO Journal, 2000, v. 19, n. 2, p. 223, doi. 10.1093/emboj/19.2.223
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- Publication type:
- Article
Overexpression of Pex15p, a phosphorylated peroxisomal integral membrane protein required for peroxisome assembly in S.cerevisiae, causes proliferation of the endoplasmic reticulum membrane.
- Published in:
- EMBO Journal, 1997, v. 16, n. 24, p. 7326, doi. 10.1093/emboj/16.24.7326
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- Publication type:
- Article