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Visualitzant per matèria "Nucleotides"

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    • A nucleotide-based drug protects against glutamate- and MPP+ -induced neurotoxicity 

      Gella Concustell, Alejandro; Martiáñez Canales, Tània; Lamarca Dams, Aloa; Gutierrez, Cristina; Durany, Nuria; Casals i Farré, Núria (Neuroscience & Medicine, 2011)
      Nucleo CMP Forte® is a nucleotide-based drug consisting of cytidinemonophosphate, uridinemonophosphate, uridin-ediphosphate and uridinetriphosphate. It has been prescribed for peripheral nervous system ...
    • Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency 

      Buesa, Carlos; Pié, Juan; Barceló, Ana; Casals i Farré, Núria; Mascaró, Cristina; Casale, César H.; Haro, Diego; Duran, Marinus; Smeitink, Jan A. M.; Hegardt, Fausto G. (Journal of Lipid Research, 1996-11)
      A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ...
    • Extracellular UTP signalling in Schwann cell migration: A novel role of the P2Y2 receptor 

      Lamarca Dams, Aloa (Data de defensa: 2013-09-24)
      Peripheral neuropaties are one of the major complications of the Peripheral Nervous System. Depsite the big importance of those pathologies, less drugs are effective for their treatment, and most of the ...
    • A two-base deletion in exon 6 of the 3-hydroxy-3- methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria 

      Casals i Farré, Núria; Pié, Juan; Casale, César H.; Zapater, Núria; Ribes, Antònia; Castro-Gago, Manuel; Rodriguez-Segade, Santiago; Wanders, Ronald J. R.; Hegardt, Fausto G. (Journal of Lipid Research, 1997)
      A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ...
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