Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9573590 | Biophysical Chemistry | 2005 | 5 Pages |
Abstract
HMG-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine catabolism. We report a new Spanish patient who bears the frequent nonsense mutation G109T (Mediterranean mutation). This mutation can produce aberrant splicing with three mRNA variants: one of the expected size, the second with deletion of exon 2, and the third with deletion of exons 2 and 3. Recently our group proposed a 3D model for human HL containing a (beta-alpha)8 (TIM) barrel structure. We have studied the effect of the deletions of exon 2 and exons 2 plus 3 on the proposed HL model. Exon 2 skipping led to the loss of beta-sheet 1, and the skipping of exons 2 and 3 caused the disappearance of alpha helix 1 and beta-sheets 1 and 2.-
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Authors
Beatriz Puisac, Eduardo López-Viñas, Susana Moreno, Cecilia Mir, Celia Pérez-Cerdá, Sebastián Menao, Dolores Lluch, Angeles Pié, Paulino Gómez-Puertas, Nuria Casals, Magdalena Ugarte, FaustoG. Hegardt, Juan Pié,