1 to 4 of 4 literature results

• Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

  3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and L-leucine catabolism. The clinical acu…

  Authors: Sebastián Menao, Eduardo López-Viñas, Cecilia Mir, Beatriz Puisac, Esther Gratacós, María Arnedo, Patricia Carrasco, Susana Moreno, Mónica Ramos, María Concepción Gil,…

  Source: Human mutation. 2009 Mar

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• A new LC-ESI-MS/MS method to measure long-chain acylcarnitine levels in cultured cells.

  The quantitative evaluation of long-chain acylcarnitines in lipid extracts from cultured cells or tissues is a prerequisite to study carnitine palmito…

  Authors: Olga Jáuregui, Adriana Y Sierra, Patricia Carrasco, Esther Gratacós, Fausto G Hegardt, Núria Casals

  Source: Analytica chimica acta. 2007 Sep 5

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• C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.

  3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase adopts a (betaalpha)(8) TIM barrel structure with an additional beta9, alpha11 and alpha12 helices. Loc…

  Authors: Patricia Carrasco, Sebastian Menao, Eduardo López-Viñas, Gabriel Santpere, Josep Clotet, Adriana Y Sierra, Esther Gratacós, Beatriz Puisac, Paulino Gómez-Puertas, Fausto G Hegardt,…

  Source: Molecular genetics and metabolism. 2007 Jun

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• CPT1c is localized in endoplasmic reticulum of neurons and has carnitine palmitoyltransferase activity.

  CPT1c is a carnitine palmitoyltransferase 1 (CPT1) isoform that is expressed only in the brain. The enzyme has recently been localized in neuron mitoc…

  Authors: Adriana Y Sierra, Esther Gratacós, Patricia Carrasco, Josep Clotet, Jesús Ureña, Dolors Serra, Guillermina Asins, Fausto G Hegardt, Núria Casals

  Source: The Journal of biological chemistry. 2008 Mar 14

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