Juan Pié
0000-0003-3203-6254
Universidad de Zaragoza
48 papers found
Refreshing results…
C-Terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase
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
Structural (βα)8 TIM Barrel Model of 3-Hydroxy-3-methylglutaryl-Coenzyme A Lyase
The diagnosis of mitochondrial HMG-CoA synthase deficiency
Genetic basis of mitochondrial HMG-CoA synthase deficiency
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