Citation Impact
Citing Papers
The human disease network
2007 Standout
The gut microbiota influences blood-brain barrier permeability in mice
2014 Standout
Riding the tiger – physiological and pathological effects of superoxide and hydrogen peroxide generated in the mitochondrial matrix
2020
Membrane curvature regulates the spatial distribution of bulky glycoproteins
2022 StandoutNobel
Health status of Gypsies and Travellers in England
2007 Standout
Origins and Divergence of the Roma (Gypsies)
2001 Standout
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
To what extent does socioeconomic status explain differences in health between Roma and non-Roma adolescents in Slovakia?
2009 Standout
Roma health issues: a review of the literature and discussion
2003
Loss-of-Function Mutation in Tryptophan Hydroxylase-2 Identified in Unipolar Major Depression
2005
Reading the glyco-code: New approaches to studying protein–carbohydrate interactions
2022 StandoutNobel
Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
2013
Mass spectrometry‐based metabolomics
2006 Standout
Short-chain fatty acid fermentation products of the gut microbiome: implications in autism spectrum disorders
2012
Physical Principles of Membrane Shape Regulation by the Glycocalyx
2019 StandoutNobel
Mis-translation of a Computationally Designed Protein Yields an Exceptionally Stable Homodimer: Implications for Protein Engineering and Evolution
2006 StandoutNobel
Recent advances in atherosclerosis-based proteomics: new biomarkers and a future perspective
2008
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
2014
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective
2005
Molecular analysis of 30 Niemann-Pick type C patients from Spain
2010
Epigenetics and the environment: emerging patterns and implications
2012 Standout
Niemann-Pick disease type C
2010 Standout
Genetic studies of the Roma (Gypsies): a review
2001
Targeting RNA splicing for disease therapy
2013
Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia
2000 Standout
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
2009
O-Pair Search with MetaMorpheus for O-glycopeptide characterization
2020 StandoutNobel
The interplay between the intestinal microbiota and the brain
2012 Standout
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome
2009
The socio-economic determinants of the health status of Roma in comparison with non-Roma in Bulgaria, Hungary and Romania
2010 Standout
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Novel highly selective inhibitors of ubiquitin specific protease 30 (USP30) accelerate mitophagy
2018
Biological roles of glycans
2016 Standout
WNT signaling in bone homeostasis and disease: from human mutations to treatments
2013 Standout
From Krebs to clinic: glutamine metabolism to cancer therapy
2016 Standout
Monovalent, reduced-size quantum dots for imaging receptors on living cells
2008 StandoutNobel
Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines
2016
Congenital disorders of glycosylation: Still “hot” in 2020
2020
The Physiology, Signaling, and Pharmacology of Dopamine Receptors
2011 Standout
Gut–brain axis: how the microbiome influences anxiety and depression
2013 Standout
Neurobiological effects of intraventricular propionic acid in rats: Possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders
2006
Revealing the human mucinome
2022 StandoutNobel
Structural and mechanistic insights into hepatitis C viral translation initiation
2006 StandoutNobel
Glycosylation in health and disease
2019
Cystic fibrosis genetics: from molecular understanding to clinical application
2014 Standout
Pushing the limits of the scanning mechanism for initiation of translation
2002
Gastrointestinal flora and gastrointestinal status in children with autism – comparisons to typical children and correlation with autism severity
2011 Standout
Major Depressive Disorder
2008 Standout
Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy
2004
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
Linkage disequilibrium mapping of complex disease: fantasy or reality?
1998
Defining roles of specific reactive oxygen species (ROS) in cell biology and physiology
2022 Standout
Serotonin, tryptophan metabolism and the brain-gut-microbiome axis
2014 Standout
A Pragmatic Guide to Enrichment Strategies for Mass Spectrometry–Based Glycoproteomics
2020 StandoutNobel
NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4 mice and Leigh syndrome patients: A stabilizing role for NDUFAF2
2020
Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates
2008
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression
2019 StandoutNobel
Glycosylation in cancer: mechanisms and clinical implications
2015 Standout
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
Glycoproteomics
2022 StandoutNobel
Iron Catalysis in Organic Synthesis
2015 Standout
Extracellular vesicles: Exosomes, microvesicles, and friends
2013 Standout
Geometric and Electronic Structure/Function Correlations in Non-Heme Iron Enzymes
1999 Standout
Overview of Extracellular Vesicles, Their Origin, Composition, Purpose, and Methods for Exosome Isolation and Analysis
2019 Standout
Internal Initiation Stimulates Production of p8 Minicore, a Member of a Newly Discovered Family of Hepatitis C Virus Core Protein Isoforms
2009 StandoutNobel
The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism
2002
Role of GSK3β in behavioral abnormalities induced by serotonin deficiency
2008
Electron-Based Dissociation Is Needed for O-Glycopeptides Derived from OpeRATOR Proteolysis
2020 StandoutNobel
Structural Insight into the Aromatic Amino Acid Hydroxylases and Their Disease-Related Mutant Forms
1999
Population Structure and Eigenanalysis
2006 Standout
The prevalence of folate-remedial MTHFR enzyme variants in humans
2008
Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia
2000 Standout
Maintaining order: COG complex controls Golgi trafficking, processing, and sorting
2019
THE MAMMALIAN UNFOLDED PROTEIN RESPONSE
2005 Standout
Dioxygen Activation at Mononuclear Nonheme Iron Active Sites: Enzymes, Models, and Intermediates
2004 Standout
A GlycoGene CRISPR-Cas9 lentiviral library to study lectin binding and human glycan biosynthesis pathways
2020
Peroxisome Biogenesis Disorders
2003
Congenital Disorders of Glycosylation from a Neurological Perspective
2021
Conformation of the Substrate and Pterin Cofactor Bound to Human Tryptophan Hydroxylase. Important Role of Phe313 in Substrate Specificity
2001
The Controversial Role of Human Gut Lachnospiraceae
2020 Standout
Neurological Aspects of Human Glycosylation Disorders
2015
Reaction Mechanisms of Mononuclear Non-Heme Iron Oxygenases
2005
Direct C−H Transformation via Iron Catalysis
2010 Standout
Isolation of Multiple TT Virus Genotypes from Spleen Biopsy Tissue from a Hodgkin's Disease Patient: Genome Reorganization and Diversity in the Hypervariable Region
2004 StandoutNobel
Congenital disorders of glycosylation: new defects and still counting
2014
Works of Belén Pérez being referenced
Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34
1997
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples
1997
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients
2005
Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia
2001
Functional characterization of PCCA mutations causing propionic acidemia
2002
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America
2003
The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
2001
Overexpression of adapted U1snRNA in patients' cells to correct a 5′ splice site mutation in propionic acidemia
2010
Ndufs4 related Leigh syndrome: A case report and review of the literature
2016
Congenital disorders of glycosylation (CDG): Quo vadis?
2017
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia
2017
DPAGT1‐CDG: Report of a patient with fetal hypokinesia phenotype
2012
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia
2009
Propionic acidemia: mutation update and functional and structural effects of the variant alleles
2004
Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations inPAH
2003
Expression Analysis of Phenylketonuria Mutations
2000
Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA
2007
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants
2005
Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG
2014
Protein misfolding diseases: Prospects of pharmacological treatment
2017
Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families
1994
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG
2016
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
1997
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
2012
Quantitative Analysis of Mitochondrial Protein Expression in Methylmalonic Acidemia by Two-Dimensional Difference Gel Electrophoresis
2006
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia
2012