C. Mir

发表

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

A. Valencia, R. Aledo, B. Puisac, 2003, The Journal of biological chemistry.

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

B. Puisac, M. Arnedo, C. Pérez-Cerdá, 2009, Human mutation.

Structural (βα)8 TIM Barrel Model of 3-Hydroxy-3-methylglutaryl-Coenzyme A Lyase*

A. Valencia, R. Aledo, B. Puisac, 2003, Journal of Biological Chemistry.

Nutritional status, muscle strength and functional capacity in children and adolescents with cystic fibrosis

C. Mir, N. N. Santana, C. Gonçalves, 2018 .

CDP-choline prevents glutamate-mediated cell death in cerebellar granule neurons

R. Aledo, N. Casals, C. Mir, 2003, Journal of Molecular Neuroscience.

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

R. Aledo, B. Puisac, P. Gómez-Puertas, 2006, Journal of Inherited Metabolic Disease.

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.

B. Puisac, C. Pérez-Cerdá, Á. Pié, 2005, Biophysical chemistry.

Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

R. Aledo, J. Pié, N. Casals, 2006, Journal of Inherited Metabolic Disease.

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

B. Puisac, A. Ribes, Á. Pié, 2009, Human mutation.