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Results 1 - 10 of 608 for l -"azetidine-2-carboxylic" acid
  1. ... DDC gene provides instructions for making the aromatic l-amino acid decarboxylase (AADC) enzyme, which plays an important role ... deficiency. More About This Health Condition AADC aromatic L-amino acid decarboxylase dopa decarboxylase Tests of DDC PubMed DOPA ...
  2. ... provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved ... M, Fort J, Gasol E, Pineda M, Feliubadalo L, Chillaron J, Zorzano A. The genetics of heteromeric amino acid transporters. Physiology (Bethesda). 2005 Apr;20:112-24. ...
  3. ... 1 ACY1D acylase 1 aminoacylase-1 N-acyl-L-amino-acid amidohydrolase Tests of ACY1 PubMed AMINOACYLASE 1; ACY1 NCBI Gene ClinVar Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca ...
  4. ... LPA receptor 6 LPA-6 LPAR6_HUMAN oleoyl-L-alpha-lysophosphatidic acid receptor P2RY5 P2Y purinoceptor 5 P2Y5 purinergic receptor ...
  5. ... break down a molecule known as unsulfated alpha-L-iduronic acid, which is present in two GAGs called heparan sulfate and dermatan sulfate. Alpha-L-iduronidase is located in lysosomes, compartments within cells ...
  6. ... enzyme breaks down a compound called N-acetyl-L-aspartic acid (NAA) into aspartic acid (an amino acid that ... the amino acid glutamic acid for the amino acid alanine at position 305 of aspartoacylase (written as Ala305Glu or A305E). This mutation also leads to ... PubMed ASPARTOACYLASE; ASPA ...
  7. ... a sulfate from a molecule called sulfated alpha-L-iduronic acid, which is present in two GAGs called heparan ...
  8. ... Schneider-Gold C, Sommer C, Timchenko NA, Timchenko L. Reduction of Cellular Nucleic Acid Binding Protein Encoded by a Myotonic Dystrophy Type ...
  9. ... SS, Kahari ID, Roy I, Sarwar M, Sawyer L, Wang SF. 5-Aminolevulinic acid synthase: mechanism, mutations and medicine. Biochim Biophys Acta. 2003 Apr 11;1647(1-2):361-6. doi: 10.1016/s1570-9639(03)00095-5. Citation on ... Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, ...
  10. ... hydroxylase helps convert the protein building block (amino acid) tyrosine to L-DOPA, which can then be converted to dopamine. ... usually respond to treatment with a medication called L-Dopa. Most TH gene ... amino acids in the tyrosine hydroxylase enzyme. These changes reduce ...
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