Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder resulting from a deficiency in the alanine glyoxylate aminotransferase (AGT) enzyme encoded by the AGXT gene (Danpure et al., 1987; Hopp et al., 2015; Mandrile et al., 2014). Under normal circumstances, AGT detox...
Along these lines, one of the most consistent metabolic pathways altered in our ARF cohort was the pentose phosphate-dependent production of NAD, specifically the de novo NAD biosynthetic pathway. To be functional, NAD requires contributions from other key enzyme cofactors, including its phosphorylated...
Autophagy dysregulation is partially dependent on mTOR pathway activation. Genes associated with autophagy were mostly expressed in the neuronal regions, not specific to the DNs region in the transcriptome level. Then, we examined the expression of p62, the critical component of the autophagy pathway,...
IL-33-dependent induction of allergic lung inflammation by FcgammaRIII signaling. J Clin Invest. 2013;123:2287–2297. Article CAS PubMed PubMed Central Google Scholar Hardman CS, Panova V, McKenzie AN. IL-33 citrine reporter mice reveal the temporal and spatial expression of IL-33 during ...
(2) Phosphoinositide-dependent kinase-1. P domain See trefoil motif. pds1 (1) In S. cerevisiae, the gene that encodes securin. (2) In Zea mays, the gene that encodes phytoene dehydrogenase, a chloroplast enzyme (EC 1.14.99.-, 571aa) involved in carotenoid biosynthesis. PDX-1 (1) ...
Repeated hypoglycaemia mostly induced a reduction in gene expression. Among the most downregulated genes wasPcsk1n, an inhibitor of the protein convertase, PCSK1. This enzyme controls the functional maturation of several hormones and neuropeptides, including AVP, and the orexigenic and anorexigenic neur...
After attaining the crystallized enzyme, the H2O and inhibitors were removed and the H atoms were added. The examined ligands were redocked into the vacant active site after the standard inhibitor was removed from it. The ChemPLP scoring function was generated for measuring the binding affinity, ...
Insulin dependent (i.e., "type 1") diabetes mellitus (T1DM) is considered to be a T cell mediated disease in which TH1 and Tc autoreactive cells attack the pancreatic islets. Among the beta-cell antigens implicated in T1DM, glutamic acid decarboxylase (GAD) 65 appears to play a key role...
Retinitis Pigmentosa is a genetically heterogeneous, degenerative retinal disorder characterized by gradual dysfunction and death of photoreceptors, first rods and later cones, and progressive blindness. Studies suggested that application of L-type calci
Activation of NMDARs is also essential for the recruitment of AMPARs into silent synapses and for other types of Ca2+-dependent synaptic plasticity51,52. Using western blot, we analyzed the possible effect of APP overexpression on glutamatergic receptors, focusing on most abundant subunits ...