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List of works by Juan Pié

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

scientific article

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol

scientific article

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

scientific article

Clinical utility gene card for: Cornelia de Lange syndrome

scientific article

Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

scientific article published on 16 June 2017

Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects

scientific article published on 20 November 2018

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

scientific article published on 17 June 2013

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

scientific article

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones ⬇️

scientific article published on 04 December 2019

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

scientific article

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

scientific article published on 24 January 2017

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.

scientific article

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

scientific article

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