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Mutagenesis of specific amino acids converts carnitine acetyltransferase into carnitine palmitoyltransferase

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Mutational Spectrum of Maple Syrup Urine Disease in Spain

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

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

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Quasi-atomic model of bacteriophage T7 procapsid shell: Insights into the structure and evolution of a basic fold

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

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

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C-terminal end and aminoacid Lys(48) in HMG-CoA lyase are involved in substrate binding and enzyme activity

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Molecular genetics of HMG-CoA lyase deficiency

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

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

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New insights into the mechanism of RNA degradation by ribonuclease II - Identification of the residue responsible for setting the RNase II end product

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

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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

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Ten Novel HMGCL Mutations in 24 Patients of Different Origin with 3-Hydroxy-3-Methyl-Glutaric Aciduria

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

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Structural and Functional Model for Ionic (K+/Na+) and pH Dependence of GTPase Activity and Polymerization of FtsZ, the Prokaryotic Ortholog of Tubulin

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Determination of Key Residues for Catalysis and RNA Cleavage Specificity ONE MUTATION TURNS RNase II INTO A "SUPER-ENZYME"

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Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A, and SMC3 in a Cohort of 30 Unrelated Patients With Cornelia de Lange Syndrome

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CDKN1C (p57(Kip2)) Analysis in Beckwith-Wiedemann Syndrome (BWS) Patients: Genotype-Phenotype Correlations, Novel Mutations, and Polymorphisms

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Strong FtsZ is with the force: mechanisms to constrict bacteria

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Neutralization of Human Respiratory Syncytial Virus Infectivity by Antibodies and Low-Molecular-Weight Compounds Targeted against the Fusion Glycoprotein

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Technical phosphoproteomic and bioinformatic tools useful in cancer research.

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Nanomechanics of the Cadherin Ectodomain "CANALIZATION" BYCa2 BINDING RESULTS IN A NEW MECHANICAL ELEMENT

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

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The Role of GIn(61) in HRas GTP Hydrolysis: A Quantum Mechanics/Molecular Mechanics Study

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

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The role of Gln(61) in HRas GTP hydrolysis: a quantum mechanics/molecular mechanics study (vol 102, pg 152, 2012 )

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

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

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Surface-Enhanced Raman Scattering-Based Detection of the Interactions between the Essential Cell Division FtsZ Protein and Bacterial Membrane Elements

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

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Mutations That Hamper Dimerization of Foot-and-Mouth Disease Virus 3A Protein Are Detrimental for Infectivity

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

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Genome Sequence of OXA-48 Carbapenemase-Producing Klebsiella pneumoniae KpO3210

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Simulation of Catalytic Water Activation in Mitochondrial F-1-ATPase Using a Hybrid Quantum Mechanics/Molecular Mechanics Approach: An Alternative Role for beta-Glu 188

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

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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

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

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Developmental ORIgins of Healthy and Unhealthy AgeiNg: The Role of Maternal Obesity - Introduction to DORIAN

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Torsion and curvature of FtsZ filaments

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FIREBALL/AMBER: An Efficient Local-Orbital DFT QM/MM Method for Biomolecular Systems

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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

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

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

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

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Comparing Molecular Dynamics Force Fields in the Essential Subspace

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

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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

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ANISERP: a new serpin from the parasite Anisakis simplex

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

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MEPSA: minimum energy pathway analysis for energy landscapes

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

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Special Cases in Cornelia de Lange Syndrome: The Spanish Experience

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

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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

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Two-step ATP-driven opening of cohesin head

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

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

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

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

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

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

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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

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

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

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Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

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DLG4-related synaptopathy: a new rare brain disorder

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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

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Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia

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

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

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Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners

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Diversity of mechanisms to control bacterial GTP homeostasis by the mutually exclusive binding of adenine and guanine nucleotides to IMP dehydrogenase

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Computational Modeling and Design of New Inhibitors of Carbapenemases: A Discussion from the EPIC Alliance Network

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

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A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

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Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

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Distinct GSDMB protein isoforms and protease cleavage processes differentially control pyroptotic cell death and mitochondrial damage in cancer cells

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STAG2: Computational Analysis of Missense Variants Involved in Disease

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

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The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants

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STAG2-RAD21 complex: A unidirectional DNA ratchet mechanism in loop extrusion

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Structural Basis for Alternative Self-Assembly Pathways Leading to Different Human Immunodeficiency Virus Capsid-Like Nanoparticles

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In Silico Design of miniACE2 Decoys with In Vitro Enhanced Neutralization Activity against SARS-CoV-2, Encompassing Omicron Subvariants

researcher

Paulino Gomez-Puertas

researcher

Martina Baizán Urgell

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Sympatric speciation by allochrony in a seabird

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Morphological versus acoustic analysis: what is the most efficient method for sexing yelkouan shearwaters Puffinus yelkouan?

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Geographic assignment of seabirds to their origin: combining morphologic, genetic, and biogeochemical analyses

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Prevalence and diversity of Lyme borreliosis bacteria in marine birds

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The influence of breeding colony and sex on mercury, selenium and lead levels and carbon and nitrogen stable isotope signatures in summer and winter feathers of Calonectris shearwaters

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Population structure in a highly pelagic seabird, the Cory’s shearwater Calonectris diomedea: an examination of genetics, morphology and ecology

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Linking questions to practices in the study of microbial pathogens: sampling bias and typing methods

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New perspectives in tracing vector-borne interaction networks

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Cryptic vector divergence masks vector‐specific patterns of infection: an example from the marine cycle of Lyme borreliosis

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Worldwide distribution and diversity of seabird ticks: implications for the ecology and epidemiology of tick-borne pathogens

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Trophic versus geographic structure in stable isotope signatures of pelagic seabirds breeding in the northeast Atlantic

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Seabirds and the circulation of Lyme borreliosis bacteria in the North Pacific

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Computational Biology and Bioinformatics (BCB)

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