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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• Molecular genetics of HMG-CoA lyase deficiency.

  3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and l-leucine catabolism,…

  Authors: Juan Pié, Eduardo López-Viñas, Beatriz Puisac, Sebastián Menao, Angeles Pié, Cesar Casale, Feliciano J Ramos, Fausto G Hegardt, Paulino Gómez-Puertas, Núria Casals

  Source: Molecular genetics and metabolism. 2007 Nov

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• Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.

  HMG-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine catabolism. We report a new Spanish …

  Authors: Beatriz Puisac, Eduardo López-Viñas, Susana Moreno, Cecilia Mir, Celia Pérez-Cerdá, Sebastián Menao, Dolores Lluch, Angeles Pié, Paulino Gómez-Puertas, Nuria Casals,…

  Source: Biophysical chemistry. 2005 Apr 1

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• Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.

  This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, wh…

  Authors: Núria Casals, Paulino Gómez-Puertas, Juan Pié, Cecilia Mir, Ramón Roca, Beatriz Puisac, Rosa Aledo, Josep Clotet, Sebastián Menao, Dolors Serra,…

  Source: The Journal of biological chemistry. 2003 Aug 1

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