NGLY1-deficiency  

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PubMed 9637683 A stress response pathway from the endoplasmic reticulum to the nucleus requires a novel bifunctional protein kinase/endoribonuclease (Ire1p) in mammalian cells. Eukaryotes respond to the presence of 1.75 KB 2015-03-12 2 0
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PubMed 9647758 Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Mutations at the mouse locus encoding microphthalmia-associated tran 1.06 KB 2015-03-12 2 0
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PubMed 15215856 A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol. Elimination of misfolded proteins from the endoplasmic reticulum (ER) by retro-translocation is an important 1 KB 2015-11-22 2 0
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PubMed 3578281 Hypopigmentation in the Prader-Willi syndrome. Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome (PWS). Criteria for hypopigmentation included the prese 1.05 KB 2015-11-27 11 0
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PubMed 13893773 [Consumption of adrenaline and hepatic glycogenolysis before and after monoamine oxidase (MAO) and catechol-O-methyltransferase block]. 136 Bytes 2015-11-22 2 0
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PubMed 4952963 Psychotropic drugs (2). Interaction between monoamine oxidase (MAO) inhibitors and other substances. Monoamine oxidase inhibitors (MAOI) in clinical use have an irreversible action on MAO, and this pe 2.96 KB 2015-03-12 2 0
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PubMed 6021201 Studies on the renal excretion of norepinephrine. Studies were carried out in anesthetized dogs to investigate the renal clearance of norepinephrine (NE) and to determine the origin of this amine in t 908 Bytes 2015-03-12 2 0
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PubMed 4971287 Reaction of tyrosine oxidation products with proteins of the lens. Oxidation of tyrosine in the presence of bovine lens proteins leads to the formation of brown or black melanoproteins. Both tyrosinas 960 Bytes 2015-03-12 2 0
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PubMed 5809732 Effects of reserpine on the disposition of sympathomimetic amines in vascular tissue. 1. The effects of reserpine pretreatment on the intrinsic inactivation of low concentrations of phenylephrine and 2.29 KB 2015-03-12 2 0
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PubMed 5809736 Effects of a haloalkylamine on responses to and disposition of sympathomimetic amines. 1. The mechanisms by which a haloalkylamine (GD-131) alters the inactivation of and potentiates responses to cert 3.75 KB 2015-03-12 2 0
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