Loading...
  • mTOR
  • We identified specific substitutions between amino acids 50 and 190 in the N-terminal region of TSC1 that result in reduced steady state levels of the protein and lead to increased mTOR signalling. (beds.ac.uk)
  • However, recent studies of TSC1 missense variants identified in bladder cancers [ 17 ] and in patients with TSC [ 11 ] have shown that TSC1 amino acid substitutions can be pathogenic, reducing steady state levels of TSC1 and leading to increased mTOR activity. (beds.ac.uk)
  • Protein
  • Because System A also catalyzes Na + -dependent amino acid transport sensitive to low pH, we considered that the protein(s) responsible might belong to the same family as VGAT and, in particular, SN1. (pnas.org)
  • In addition to their role in protein synthesis, amino acids play an important role as energy fuels, precursors for a variety of metabolites and as signalling molecules. (biochemj.org)
  • Bowie et al, Deciphering the Message in Protein Sequences: Tolerance to Amino Acid Substitutions, Science, 247:1306-1310, Mar. 1990. (patentgenius.com)
  • Substitutions
  • The pathogenic TSC1 amino acid substitutions are clustered within the conserved, hydrophobic N-terminal region of TSC1, indicating that this region plays an important role in TSC1 function. (beds.ac.uk)
  • reabsorption
  • Compared with mice lacking only TAT1 or LAT2, dKO LAT2-TAT1 mice lost larger amounts of aromatic and other neutral AAs in their urine due to a tubular reabsorption defect. (uzh.ch)
  • Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney. (uniprot.org)
  • Glycine
  • All of the amino acids in the human body, except glycine, are either right-hand or left-hand versions of the same molecule, meaning that in some amino acids the positions of the carboxyl group and the R -group are switched. (encyclopedia.com)
  • sequence
  • Another cautionary illustration of amino acids' power is the gamut of diseases (most notably, sickle cell anemia) that impair or claim the lives of those whose amino acids are out of sequence or malfunctioning. (encyclopedia.com)
  • carboxyl
  • The basic structure of an amino-acid molecule consists of a carbon atom bonded to an amino group (-NH 2 ), a carboxyl group (-COOH), a hydrogen atom, and a fourth group that differs from one amino acid to another and often is referred to as the- R group or the side chain. (encyclopedia.com)
  • In the amino group, two hydrogen atoms are bonded to each other and then to nitrogen, whereas the carboxyl group has two separate oxygen atoms strung between a carbon atom and a hydrogen atom. (encyclopedia.com)
  • Likewise the carbon, hydrogen, amino group, and carboxyl group in an amino acid are more or less constant. (encyclopedia.com)
  • Amino-acid molecules, which contain an amino group and a carboxyl group, do not behave like typical molecules. (encyclopedia.com)
  • substrate
  • l-Arginine is the substrate for endothelial NO synthase (eNOS) which is activated by intracellular alkalization, but nothing is known regarding modulation of system y+/CATs and system y+L activity, and eNOS activity by the pHi in HUVECs. (deepdyve.com)
  • Mutation
  • In most studies, 75 - 85% of individuals with TSC have been shown to carry a germ-line TSC1 or TSC2 mutation [ 5 - 9 ] and a further 5 - 10% carry TSC1 or TSC2 variants where it is not absolutely clear from the genetic data whether the change is disease-causing (a pathogenic variant), or not (a neutral variant). (beds.ac.uk)
  • known
  • LBPA/BMP, lyso-bis phosphatidic acid, also known as bis(monoacylglycerol)phosphate. (nih.gov)
  • To the north of the carbon center is what is known as an amino group (-NH 2 ). (encyclopedia.com)