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9,901 Possible Causes for ASCT2,, acid, amino, human, system, transport

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  • Iminoglycinuria

    The proband appears to be homozygous for iminoglycinuria with an apparent inborn defect of the renal tubular transport system specific to these amino acids.[] Abstract Amino acid homeostasis depends on specific amino acid transport systems, many of which have been characterized at the molecular level.[] Glycine is reabsorbed by more than one renal transport system, and the biochemical mechanisms that control intestinal transport of glycine and the imino acids are not identical[] Deviant postnatal net reabsorption for proline and glycine is likely to reflect deviant and specific brush border membrane carrier activity toward these amino acids.[] Broer A et al (1999) The astroglial ASCT2 amino acid transporter as a mediator of glutamine efflux. J Neurochem 73:2184–2194 PubMed Google Scholar 8.[] Human SLC36A2 , SLC6A20 , and SLC6A18 were amplified by RT-PCR from human kidney RNA (BD Biosciences).[]

  • Hartnup Disease

    acids.[] Rarely, there have been reports of severe nervous system disease and even deaths in families with this disorder. In most cases, there are no complications.[] A generally impaired cellular transport of L-histidine is improbable.[] […] amino acid transport: (i) SLC3A2 (also called the 4F2 heavy chain) 12 , 13 , 14 ; (ii) SLC7A8 (also called the LAT2 light chain) 12 , 13 , 14 ; (iii) SLC1A5 (also called ASCT2[] Cavanaugh , Further evidence for allelic heterogeneity in Hartnup disorder , Human Mutation , 29 , 10 , (1217-1221) , (2008) . M. J. Bergeron, A. Simonin, M.[] The disease-causing mutations that we tested reduced neutral amino acid transport function in vitro.[]

  • Carnitine Transporter Deficiency

    For activation of fatty acids, enzyme thiokinase or acyl-CoA synthetases convert the fatty acids to fatty acyl-CoA .[] Deficiency, Primary Systemic Carnitine Deficiency Systemic primary carnitine deficiency Carnitine transporter defect SPCD CUD edit English Systemic primary carnitine deficiency[] […] arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction Aralar-like, SLC25A13 adult-onset type II citrullinemia ATBo, SLC1A5, hATBo, ASCT2[] This protein helps in transporting carnitine to the inside of the cell.[] Similar phenomena have been observed in human primary carnitine deficiency.[] […] transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect Definition: An amino[]

  • Dicarboxylic Aminoaciduria

    Amino acid clearance studies revealed the presence of renal wastage of dicarboxylic amino acids.[] We believe the software used in class II newborn screening test systems for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry systems meets the[] ASCT2 shows variable substrate specificity.[] Solute carrier family 1, member 1 (SLC1A1; also known as EAAT3 and EAAC1) is the major epithelial transporter of glutamate and aspartate in the kidneys and intestines of rodents[] Abstract Glutamic and aspartic acid uptake was measured in skin fibroblasts from patients with Friedreich's Ataxia, dicarboxylic aminoaciduria, and normal individuals.[] […] handling in humans.[]

  • Influenza

    The most important amino acid factor (Factor 3) and the minimal range of signature positions (50 amino acid residues) were explored by a supporting vector machine (the highest-performing[] Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system that has been associated with influenza immunization, but only[] Dynein-Directed Transport on Microtubules in Stage II.[] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[] Virulent avian influenza strains, which cause systemic disease, have an HA that is cleaved by proteases present in all cells of the body, rather than by proteases restricted[] […] i Chemistry databases PTM / Processing i Molecule processing Feature key Position(s) Description Actions Graphical view Length Chain i PRO_0000078796 1 – 716 Polymerase acidic[]

    Missing: ASCT2
  • Bile Salt

    المحتويات Chapter 9 Mechanism of bile acid biosynthesis in mammalian liver 231 Chapter 10 Bile alcohols and primitive bile acids 279 Chapter 11 Metabolism of bile acids in[] However, the role of lipid binding in this system is unknown.[] The rhBSSL purified from cow milk had the same enzymatic activity, N-terminal amino acid sequence, amino acid composition and isoelectric point and similar physicochemical[] Solutes other than bile salts are also transported by NTCP. However, ASBT has not been shown to be a transporter for non-bile salt substrates.[] In this study, we examine the kinetics associated with human NTCP-dependent transport of two quantitatively important bile acids comprising the human bile acid pool, chenodeoxycholic[] […] following categories: stress responses, cell division, transcription, translation, nucleotide metabolism, carbohydrate transport and metabolism, cell wall biosynthesis, and amino[]

    Missing: ASCT2
  • Lysinuric Protein Intolerance

    Furthermore, of these metabolites, myo-inositol, threonic acid, 2,5-furandicarboxylic acid, galactaric acid, 4-hydroxyphenylacetic acid, indole-3-acetic acid and beta-aminoisobutyric[] We report lysinuric protein intolerance (LPI) and systemic lupus erythematosus (SLE) in a 14-year-old girl.[] With a great increase of the filtered load the saturated intracellular amino acid, which is not transported to the capillary because of a transport defect of the basolateral[] Caudill Elsevier Health Sciences , 6 abr. 2018 0 Reseñas Biochemical, Physiological, and Molecular Aspects of Human Nutrition - E-Book Vista previa del libro » Comentarios[] BACKGROUND: In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y LAT1 impair system y L transport activity for cationic amino acids.[] […] recently described y L amino acid transporter.[]

    Missing: ASCT2
  • Carnitine

    Valproic acid and carnitine .[] Systemic primary (CDSP) Carnitine uptake deficiency (CUD) Systemic carnitine deficiency (SCD) Primary carnitine deficiency Deficiency of plasma-membrane carnitine transporter[] […] by the carnitine/organic cation transporter 2 (OCTN2, SLC22A5) but not by the organic cation transporter 1 (OCT1) and N1 (OCTN1).[] Quantity: Subtotal: ( items in your basket) Easy-to-take amino formula GBP 11.99 RRP: 14.99 11.99 Save 3.00 Product Overview Carnitine is created in the body from the amino[] Register Role of Carnitine in Human Nutrition - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00 Rental This article is also available for rental through DeepDyve.[] […] groups from acyl-coenzyme A esters to l-carnitine, forming acyl-carnitine esters that may be transported across cell membranes. l-Carnitine is a wáter-soluble compound that humans[]

    Missing: ASCT2
  • Cystinuria

    acid 341, who inherited these alleles from his mother (E268K) and father (T341A), respectively.[] Systems, Basic/genetics* Amino Acid Transport Systems, Neutral/chemistry Amino Acid Transport Systems, Neutral/genetics* Binding Sites Computational Biology/methods* Computer[] In this study we describe a new LC-MS/MS assay for these amino acids in urine.[] Mutation* Phenotype Pregnancy Pregnancy Trimester, Third Ultrasonography Substances Amino Acid Transport Systems, Basic Amino Acid Transport Systems, Neutral SLC3A1 protein, human[] […] biogenesis of the transporter cause type I cystinuria.[] The responsible human gene has been localised to chromosome 10.[]

    Missing: ASCT2
  • Carnitine Deficiency

    Abstract Valproic acid enhances renal losses of carnitine esters and leads to decreased plasma free carnitine concentrations in many patients receiving valproic acid therapy[] Abstract A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described.[] KEYWORDS: amino acid formula; biotin deficiency; carnitine deficiency; hydrolyzed formula; milk allergy[] Recently, a new family of transporters, named OCT (organic cation transporters) has been described.[] The present case represents the first recognized instance of carnitine deficiency in human skeletal muscle.[] Abstract Systemic carnitine deficiency is a potentially lethal, autosomal recessive disorder characterized by cardiomyopathy, myopathy, recurrent episodes of hypoketotic hypoglycemia[]

    Missing: ASCT2