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8,931 Possible Causes for ASC, Acid, Amino, Proteins, System, Transport

Did you mean: ASC, acne, amines, proteus, System, Transport

  • Lysinuric Protein Intolerance

    GeneReview/NIH/UW entry on Lysinuric Protein Intolerance[en.wikipedia.org] ., L isoforms, y( )L isoforms, asc, xc-, and b(0, )). The light subunits confer the amino acid transport specificity to the HAT.[ncbi.nlm.nih.gov] RESULTS: Our results demonstrated that LPI patients have a dichotomy of amino acid profiles, with both decreased essential and increased non-essential amino acids.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] We report lysinuric protein intolerance (LPI) and systemic lupus erythematosus (SLE) in a 14-year-old girl.[ncbi.nlm.nih.gov] BACKGROUND: In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y LAT1 impair system y L transport activity for cationic amino acids.[ncbi.nlm.nih.gov]

  • Iminoglycinuria

    Absorption refers to the overall process happening in the intestine in lieu of normal digestive breakdown of proteins, while reabsorption refers to the process occurring in[en.wikipedia.org] Munck BG, Munck LK (1999) Effects of pH changes on systems ASC and B in rabbit ileum. Am J Physiol 276:G173–G184 PubMed Google Scholar 41.[doi.org] The proband appears to be homozygous for iminoglycinuria with an apparent inborn defect of the renal tubular transport system specific to these amino acids.[ncbi.nlm.nih.gov] Deviant postnatal net reabsorption for proline and glycine is likely to reflect deviant and specific brush border membrane carrier activity toward these amino acids.[doi.org] 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[doi.org] Abstract Amino acid homeostasis depends on specific amino acid transport systems, many of which have been characterized at the molecular level.[doi.org]

  • Influenza

    Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[dx.doi.org] Virus-specific IgA (and IgG) antibody secreting cells (ASC) as well as Th and CTLs will be present in the tissues lining the respiratory tract and in the local lymph nodes[web.archive.org] 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[ncbi.nlm.nih.gov] Dynein-Directed Transport on Microtubules in Stage II.[dx.doi.org] Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system that has been associated with influenza immunization, but only[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • Hartnup Disease

    Radiology of the small intestine is abnormal in Hartnup disease when a large amount of protein is admixed with the barium meal.[ncbi.nlm.nih.gov] A generally impaired cellular transport of L-histidine is improbable.[ncbi.nlm.nih.gov] 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.[nlm.nih.gov] Malnutrition and a low-protein diet are the primary factors causing clinical morbidity.[symptoma.com] Urinary amino acids concentration in the son and his mother were rather normal, although low concentration of eight amino acids was found in the mother's urine.[ncbi.nlm.nih.gov] The disease-causing mutations that we tested reduced neutral amino acid transport function in vitro.[ncbi.nlm.nih.gov]

    Missing: ASC
  • Dicarboxylic Aminoaciduria

    In the gastrointestinal tract, protein digestion and absorption are key to establishing and maintaining amino acid pools.[en.wikipedia.org] The system asc transporter 4F2hc/asc-1 (SLC3A2/SLC7A10) The heteromeric transporter 4F2hc/asc-1 (SLC3A2/SLC7A10) mediates the Na -independent transport of small neutral amino[doi.org] Amino acid clearance studies revealed the presence of renal wastage of dicarboxylic amino acids.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] Category Urinary system disease; Kidney disease; Inherited metabolic disease Brite Human diseases [BR: br08402 ] Congenital disorders of metabolism Congenital disorders of[genome.jp] […] heterodimer with type II membrane protein SLC3A2.[doi.org]

  • Carnitine Transporter Deficiency

    From Wikidata Jump to navigation Jump to search amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells[wikidata.org] For activation of fatty acids, enzyme thiokinase or acyl-CoA synthetases convert the fatty acids to fatty acyl-CoA .[pharmaxchange.info] This protein helps in transporting carnitine to the inside of the cell.[symptoma.com] […] transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect Definition: An amino[zfin.org] The predicted neo-amino acid sequence is shown below the sequencing chromatograms.[pnas.org] Systemic primary carnitine deficiency (SPCD), also known as carnitine deficiency, systemic primary (CDSP), carnitine uptake defect (CUD), carnitine transporter deficiency[en.wikipedia.org]

    Missing: ASC
  • Cystinuria

    Among them, the heterodimer of a membrane protein b(0, )AT/SLC7A9 and its auxiliary subunit rBAT/SLC3A1 is responsible for cystine reabsorption in renal proximal tubules.[ncbi.nlm.nih.gov] acid 341, who inherited these alleles from his mother (E268K) and father (T341A), respectively.[ncbi.nlm.nih.gov] Systems, Basic/genetics* Amino Acid Transport Systems, Neutral/chemistry Amino Acid Transport Systems, Neutral/genetics* Binding Sites Computational Biology/methods* Computer[ncbi.nlm.nih.gov] These proteins include markers of kidney injury, circulating proteins, and a neutrophil signature.[ncbi.nlm.nih.gov] In this study we describe a new LC-MS/MS assay for these amino acids in urine.[ncbi.nlm.nih.gov] There are differences in sequence location, evolutionary conservation, allele frequency, and predicted effect on protein function between these mutations and other genetic[ncbi.nlm.nih.gov]

    Missing: ASC
  • Connective Tissue Disease

    These tissues are made up of two structural proteins namely collagen and elastin.[symptoma.com] Amino acid and organic acid metabolism disorders include Beta-Amino Acid and Gamma-Amino Acid Disorders Disease (OMIM Number) Defective Proteins or Enzymes Defective Gene[merck.com] In conclusion, NDC represents a dynamic state, and it is important to recognize the possibility of a progression to a definite systemic autoimmune disease.[ncbi.nlm.nih.gov] The connective tissues are composed of two major structural protein molecules, collagen and elastin.[medicinenet.com] Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body[en.wikipedia.org] Diseases of the connective tissue cause inflammation of these protein molecules and harm the body parts they are associated with.[symptoma.com]

    Missing: ASC
  • Nonketotic Hyperglycinemia

    Immunochemical analysis indicated that this resulted from an absence of the enzyme protein.[ncbi.nlm.nih.gov] The alanine-serine-cysteine-1 (Asc-1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission.[jrehabilhealth.com] In rodents and primates, this process involves facilitatory and inhibitory effects mediated through hypothalamic N-methyl-D-aspartic acid (NMDA) and gamma-aminobutyric acid[ncbi.nlm.nih.gov] Report Availability: Sample by Mon / Wed 5 pm; Report 3 days Sample Report: 12 Diagnostic Centers found for AMINO ACID, NON-KETOTIC HYPERGLYCINEMIA PANEL QUANTITATIVE, CSF[lalpathlabs.com] […] low affinity glycine transport system is absent in the brain of the patient, whereas an alteration of transport systems occurs in the patient's spinal cord, probably involving[ncbi.nlm.nih.gov] […] acid 47 (G47R) in one allele, and a G-to-A transition leading to an Arg-to-His substitution at amino acid 320 (R320H) in the other allele.[ncbi.nlm.nih.gov]

  • Barth Syndrome

    Combining those profiles with gene set enrichment analysis allows detecting significantly affected protein complexes.[biorxiv.org] (B) Rate of oxygen consumption measured using ascorbate/TMPD as an electron source in the presence of CCCP (Asc/TMPD CCCP).[dmm.biologists.org] “Instead, we believe the mitochondria take amino acids from the muscle and heart for energy.”[outlook.wustl.edu] acid.[web.archive.org] Because cardiolipin is the major phospholipid of mitochondria, the elements of all cells that make energy, many systems in the body can be affected.[kennedykrieger.org] Barth syndrome is a metabolic and neuromuscular disorder that primarily affects the heart, immune system, muscles, and growth.[checkorphan.org]