List of works - Paulino Gómez-Puertas

A Practical Quantum Mechanics Molecular Mechanics Method for the Dynamical Study of Reactions in Biomolecules

scientific article published on 15 July 2015

A comparative sequence analysis to revise the current taxonomy of the family Coronaviridae.

scientific article published in November 2003

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature

scientific article published on 17 August 2018

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases.

scientific article published on June 2017

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.

scientific article

ANISERP: a new serpin from the parasite Anisakis simplex.

scientific article published on 28 July 2015

Age-related changes in calcium homeostatic mechanisms in synaptosomes in relation with working memory deficiency.

scientific article published in September 1993

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease

article

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

scientific article published on 4 February 2013

Analysis of the interaction between the eukaryotic chaperonin CCT and its substrates actin and tubulin

scientific article (publication date: August 2001)

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

scientific article

C75 is converted to C75-CoA in the hypothalamus, where it inhibits carnitine palmitoyltransferase 1 and decreases food intake and body weight

scientific article

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

scientific article published in June 2010

Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: role in the heart malate-aspartate NADH shuttle

scientific journal 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

Comparing molecular dynamics force fields in the essential subspace.

scientific article

Computational approaches to model ligand selectivity in drug design.

scientific article

Conditions restricting depolarization-dependent calcium influx in synaptosomes reveal a graded response of P96 dephosphorylation and a transient dephosphorylation of P65

scientific article published on 01 June 1991

Control of the respiratory metabolism of Thermus thermophilus by the nitrate respiration conjugative element NCE.

scientific article published in May 2007

Correction

Correction: Modulating the RNA Processing and Decay by the Exosome: Altering Rrp44/Dis3 Activity and End-Product

scientific article published on 21 August 2015

Ddi1-like protein from Leishmania major is an active aspartyl proteinase.

scientific article published on 30 August 2012

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

scientific article

Definition by functional and structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A

scientific article

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Design of clone-specific probes from genome sequences for rapid PCR-typing of outbreak pathogens.

scientific article published on 4 April 2014

Determination of key residues for catalysis and RNA cleavage specificity: one mutation turns RNase II into a "SUPER-ENZYME".

scientific article published on 19 May 2009

Developmental ORIgins of Healthy and Unhealthy AgeiNg: the role of maternal obesity--introduction to DORIAN.

scientific article published on 30 April 2014

Divergent Substrate-Binding Mechanisms Reveal an Evolutionary Specialization of Eukaryotic Prefoldin Compared to Its Archaeal Counterpart

scientific article published on 01 January 2007

ESF Programme on 'Integrated Approaches for Functional Genomics' Workshop on 'Modelling of Molecular Networks'.

scientific article

Efficient formation of influenza virus-like particles: dependence on the expression levels of viral proteins

scientific article published in July 1999

Escherichia coli FtsZ polymers contain mostly GTP and have a high nucleotide turnover

scientific article published in July 2001

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

scientific article published on 04 February 2020

Genome sequence of OXA-48 carbapenemase-producing Klebsiella pneumoniae KpO3210.

scientific article published on December 2012

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

scientific article published on 28 March 2018

Identification of temperature-sensitive mutations and characterization of thermolabile RNase II variants

scientific article published on 28 December 2018

Improvement of African swine fever virus neutralization assay using recombinant viruses expressing chromogenic marker genes.

scientific article published on October 1995

In vivo functional and molecular characterization of the Penicillin-Binding Protein 4 (DacB) of Pseudomonas aeruginosa

scientific article

Influenza virus matrix protein is the major driving force in virus budding.

scientific article published on December 2000

MEPSA: minimum energy pathway analysis for energy landscapes

scientific article published on 31 July 2015

MEPSAnd: minimum energy path surface analysis over n-dimensional surfaces

scientific article published on 01 February 2020

Modulating the RNA processing and decay by the exosome: altering Rrp44/Dis3 activity and end-product

scientific article

Molecular Characterization of Tc964, A Novel Antigenic Protein from Trypanosoma cruzi

scientific article published on 31 March 2020

Molecular basis of the association of H208Y and thymidine analogue resistance mutations M41L, L210W and T215Y in the HIV-1 reverse transcriptase of treated patients

scientific article published on 22 March 2014

Molecular dynamics analysis of conformational change of paramyxovirus F protein during the initial steps of membrane fusion

scientific article published on 28 February 2012

Molecular dynamics simulation of GTPase activity in polymers of the cell division protein FtsZ.

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

Mutagenesis of Specific Amino Acids Converts Carnitine Acetyltransferase into Carnitine Palmitoyltransferase†

scientific article published in May 2006

Mutational spectrum of maple syrup urine disease in Spain

scientific article published on 01 July 2006

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 that hamper dimerization of foot-and-mouth disease virus 3A protein are detrimental for infectivity

scientific article

Nanomechanics of the cadherin ectodomain: "canalization" by Ca2+ binding results in a new mechanical element.

scientific article

Neutralization of human respiratory syncytial virus infectivity by antibodies and low-molecular-weight compounds targeted against the fusion glycoprotein.

scientific article published on 9 June 2010

New Insights into the Mechanism of RNA Degradation by Ribonuclease II

scientific article published in Journal of Biological Chemistry

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

scientific article published on 7 June 2013

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

scientific article published on 23 June 2020

Novel effect of C75 on carnitine palmitoyltransferase I activity and palmitate oxidation

scientific article

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

scientific article published on 08 February 2021

Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy

scientific article published in 2024

Phage-display and correlated mutations identify an essential region of subdomain 1C involved in homodimerization of Escherichia coli FtsA.

scientific article

Population structure of OXA-48-producing Klebsiella pneumoniae ST405 isolates during a hospital outbreak characterised by genomic typing

scientific article published on 22 June 2018

Pyruvate dehydrogenase dephosphorylation in rat brain synaptosomes and mitochondria: evidence for a calcium-mediated effect in response to depolarization, and variations due to ageing

scientific article published in August 1992

Quantum Mechanics/Molecular Mechanics Free Energy Maps and Nonadiabatic Simulations for a Photochemical Reaction in DNA: Cyclobutane Thymine Dimer.

scientific article published on 21 October 2016

Quasi-atomic model of bacteriophage t7 procapsid shell: insights into the structure and evolution of a basic fold

scientific article published in April 2007

Redesign of carnitine acetyltransferase specificity by protein engineering

scientific journal article

Residues in human respiratory syncytial virus P protein that are essential for its activity on RNA viral synthesis.

scientific article published on 7 January 2008

Scoring docking models with evolutionary information

scientific article published in August 2005

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

scientific article published on 27 May 2014

Simulation of catalytic water activation in mitochondrial F1-ATPase using a hybrid quantum mechanics/molecular mechanics approach: an alternative role for β-Glu 188.

scientific article

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

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

scientific article published on 26 January 2014

Special cases in Cornelia de Lange syndrome: The Spanish experience.

scientific article published on 10 May 2016

Strong FtsZ is with the force: mechanisms to constrict bacteria.

scientific article

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

scientific article published on 13 May 2003

Structural and functional model for ionic (K(+)/Na(+)) and pH dependence of GTPase activity and polymerization of FtsZ, the prokaryotic ortholog of tubulin.

scientific article

Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain

scientific journal article

Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal

scientific article

Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity

scientific article

Structural properties of the human respiratory syncytial virus P protein: evidence for an elongated homotetrameric molecule that is the smallest orthologue within the family of paramyxovirus polymerase cofactors

scientific article published in August 2008

Structure and function of a protein folding machine: the eukaryotic cytosolic chaperonin CCT.

scientific article

Structure of eukaryotic prefoldin and of its complexes with unfolded actin and the cytosolic chaperonin CCT.

scientific article

Surface-Enhanced Raman scattering-based detection of the interactions between the essential cell division FtsZ protein and bacterial membrane elements.

scientific article published on 27 July 2012

Swapping the domains of exoribonucleases RNase II and RNase R: Conferring upon RNase II the ability to degrade ds RNA

scientific article published on 04 April 2011

Synaptic vesicles isolated from 32P-prelabeled synaptosomes contain a phosphoprotein of apparent M(r) 65,000 (pp65), a possible substrate for PKC

scientific article published on 01 March 1994

Technical phosphoproteomic and bioinformatic tools useful in cancer research

scientific article

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

scientific article

The African swine fever virus lectin EP153R modulates the surface membrane expression of MHC class I antigens.

scientific article published on 11 November 2010

The Cell Division Protein FtsZ from Streptococcus pneumoniae Exhibits a GTPase Activity Delay.

scientific article published on September 2015

The Role of Gln61 in HRas GTP hydrolysis: a quantum mechanics/molecular mechanics study.

scientific article published on 3 January 2012

The activity of synaptosomal calcium channels is inversely correlated with working memory performance in memory impaired, aged rats.

scientific article published in January 1994

The only exoribonuclease present in Haloferax volcanii has an unique response to temperature changes

scientific article published on 15 June 2012

The role of pyruvate in neuronal calcium homeostasis. Effects on intracellular calcium pools.

scientific article published on January 1994

The role of the S1 domain in exoribonucleolytic activity: substrate specificity and multimerization

scientific article published on 22 January 2007

The structure of CCT-Hsc70 NBD suggests a mechanism for Hsp70 delivery of substrates to the chaperonin.

scientific article published on 27 July 2008

The substrate recognition mechanisms in chaperonins

scientific article published on March 2004

Torsion and curvature of FtsZ filaments.

scientific article

Two-step ATP-driven opening of cohesin head

scientific article

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

scientific article published on 04 May 2020

fireball/amber: An Efficient Local-Orbital DFT QM/MM Method for Biomolecular Systems.

scientific article

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

scientific article published on 23 February 2017

List of works by Paulino Gómez-Puertas

A Practical Quantum Mechanics Molecular Mechanics Method for the Dynamical Study of Reactions in Biomolecules

A comparative sequence analysis to revise the current taxonomy of the family Coronaviridae.

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases.

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.

ANISERP: a new serpin from the parasite Anisakis simplex.

Age-related changes in calcium homeostatic mechanisms in synaptosomes in relation with working memory deficiency.

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

Analysis of the interaction between the eukaryotic chaperonin CCT and its substrates actin and tubulin

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

C75 is converted to C75-CoA in the hypothalamus, where it inhibits carnitine palmitoyltransferase 1 and decreases food intake and body weight

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: role in the heart malate-aspartate NADH shuttle

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

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

Comparing molecular dynamics force fields in the essential subspace.

Computational approaches to model ligand selectivity in drug design.

Conditions restricting depolarization-dependent calcium influx in synaptosomes reveal a graded response of P96 dephosphorylation and a transient dephosphorylation of P65

Control of the respiratory metabolism of Thermus thermophilus by the nitrate respiration conjugative element NCE.

Correction

Correction: Modulating the RNA Processing and Decay by the Exosome: Altering Rrp44/Dis3 Activity and End-Product

Ddi1-like protein from Leishmania major is an active aspartyl proteinase.

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

Definition by functional and structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Design of clone-specific probes from genome sequences for rapid PCR-typing of outbreak pathogens.

Determination of key residues for catalysis and RNA cleavage specificity: one mutation turns RNase II into a "SUPER-ENZYME".

Developmental ORIgins of Healthy and Unhealthy AgeiNg: the role of maternal obesity--introduction to DORIAN.

Divergent Substrate-Binding Mechanisms Reveal an Evolutionary Specialization of Eukaryotic Prefoldin Compared to Its Archaeal Counterpart

ESF Programme on 'Integrated Approaches for Functional Genomics' Workshop on 'Modelling of Molecular Networks'.

Efficient formation of influenza virus-like particles: dependence on the expression levels of viral proteins

Escherichia coli FtsZ polymers contain mostly GTP and have a high nucleotide turnover

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Genome sequence of OXA-48 carbapenemase-producing Klebsiella pneumoniae KpO3210.

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Identification of temperature-sensitive mutations and characterization of thermolabile RNase II variants

Improvement of African swine fever virus neutralization assay using recombinant viruses expressing chromogenic marker genes.

In vivo functional and molecular characterization of the Penicillin-Binding Protein 4 (DacB) of Pseudomonas aeruginosa

Influenza virus matrix protein is the major driving force in virus budding.

MEPSA: minimum energy pathway analysis for energy landscapes

MEPSAnd: minimum energy path surface analysis over n-dimensional surfaces

Modulating the RNA processing and decay by the exosome: altering Rrp44/Dis3 activity and end-product

Molecular Characterization of Tc964, A Novel Antigenic Protein from Trypanosoma cruzi

Molecular basis of the association of H208Y and thymidine analogue resistance mutations M41L, L210W and T215Y in the HIV-1 reverse transcriptase of treated patients

Molecular dynamics analysis of conformational change of paramyxovirus F protein during the initial steps of membrane fusion

Molecular dynamics simulation of GTPase activity in polymers of the cell division protein FtsZ.

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

Mutagenesis of Specific Amino Acids Converts Carnitine Acetyltransferase into Carnitine Palmitoyltransferase†

Mutational spectrum of maple syrup urine disease in Spain

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

Mutations that hamper dimerization of foot-and-mouth disease virus 3A protein are detrimental for infectivity

Nanomechanics of the cadherin ectodomain: "canalization" by Ca2+ binding results in a new mechanical element.

Neutralization of human respiratory syncytial virus infectivity by antibodies and low-molecular-weight compounds targeted against the fusion glycoprotein.

New Insights into the Mechanism of RNA Degradation by Ribonuclease II

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

Novel effect of C75 on carnitine palmitoyltransferase I activity and palmitate oxidation

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy

Phage-display and correlated mutations identify an essential region of subdomain 1C involved in homodimerization of Escherichia coli FtsA.

Population structure of OXA-48-producing Klebsiella pneumoniae ST405 isolates during a hospital outbreak characterised by genomic typing

Pyruvate dehydrogenase dephosphorylation in rat brain synaptosomes and mitochondria: evidence for a calcium-mediated effect in response to depolarization, and variations due to ageing

Quantum Mechanics/Molecular Mechanics Free Energy Maps and Nonadiabatic Simulations for a Photochemical Reaction in DNA: Cyclobutane Thymine Dimer.

Quasi-atomic model of bacteriophage t7 procapsid shell: insights into the structure and evolution of a basic fold

Redesign of carnitine acetyltransferase specificity by protein engineering

Residues in human respiratory syncytial virus P protein that are essential for its activity on RNA viral synthesis.

Scoring docking models with evolutionary information

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

Simulation of catalytic water activation in mitochondrial F1-ATPase using a hybrid quantum mechanics/molecular mechanics approach: an alternative role for β-Glu 188.

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.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Special cases in Cornelia de Lange syndrome: The Spanish experience.

Strong FtsZ is with the force: mechanisms to constrict bacteria.

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

Structural and functional model for ionic (K(+)/Na(+)) and pH dependence of GTPase activity and polymerization of FtsZ, the prokaryotic ortholog of tubulin.

Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain

Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal

Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity