Publications by authors named "Belen Perez"

100Publications

Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.

Stem Cell Res 2020 Oct 17;49:102055. Epub 2020 Oct 17.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2020.102055DOI Listing
October 2020

Metabolic Serendipities of Expanded Newborn Screening.

Genes (Basel) 2020 Aug 29;11(9). Epub 2020 Aug 29.

Department of Pediatrics, University of Cantabria-University Hospital Marqués de Valdecilla, 39008 Santander, Spain.

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http://dx.doi.org/10.3390/genes11091018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565434PMC
August 2020

2-Oxaadamant-1-yl Ureas as Soluble Epoxide Hydrolase Inhibitors: Evaluation in a Murine Model of Acute Pancreatitis.

J Med Chem 2020 09 25;63(17):9237-9257. Epub 2020 Aug 25.

Laboratori de Quı́mica Farmacèutica (Unitat Associada al CSIC), Departament de Farmacologia, Toxicologia i Quı́mica Terapèutica, Facultat de Farmàcia i Ciències de l'Alimentació, and Institute of Biomedicine (IBUB), Universitat de Barcelona, Av. Joan XXIII, 27-31, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1021/acs.jmedchem.0c00310DOI Listing
September 2020

New and potential strategies for the treatment of PMM2-CDG.

Biochim Biophys Acta Gen Subj 2020 Nov 23;1864(11):129686. Epub 2020 Jul 23.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain; Instituto de Investigación Sanitaria IdiPaZ, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2020.129686DOI Listing
November 2020

Centrally Active Multitarget Anti-Alzheimer Agents Derived from the Antioxidant Lead CR-6.

J Med Chem 2020 09 11;63(17):9360-9390. Epub 2020 Aug 11.

Laboratory of Medicinal Chemistry (CSIC Associated Unit), Faculty of Pharmacy and Food Sciences, and Institute of Biomedicine (IBUB), University of Barcelona (UB), E-08028 Barcelona, Spain.

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http://dx.doi.org/10.1021/acs.jmedchem.0c00528DOI Listing
September 2020

PMM2-CDG caused by uniparental disomy: Case report and literature review.

JIMD Rep 2020 Jul 28;54(1):16-21. Epub 2020 Apr 28.

Department of Clinical Genomics, and Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA.

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http://dx.doi.org/10.1002/jmd2.12122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358672PMC
July 2020

Pharmacological Inhibition of Soluble Epoxide Hydrolase as a New Therapy for Alzheimer's Disease.

Neurotherapeutics 2020 Jun 2. Epub 2020 Jun 2.

Department of Pharmacy and Pharmaceutical Technology and Physical Chemistry, Faculty of Pharmacy and Food Sciences and Institute of Biomedicine, University of Barcelona, Av. Joan XXIII, 27-31, E-08028, Barcelona, Spain.

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http://dx.doi.org/10.1007/s13311-020-00854-1DOI Listing
June 2020

Functional characterization of multifunctional ligands targeting acetylcholinesterase and alpha 7 nicotinic acetylcholine receptor.

Biochem Pharmacol 2020 07 30;177:114010. Epub 2020 Apr 30.

Normandie Univ, UNIROUEN, INSA Rouen, CNRS, COBRA (UMR 6014), 76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.bcp.2020.114010DOI Listing
July 2020

Bicyclic α-Iminophosphonates as High Affinity Imidazoline I Receptor Ligands for Alzheimer's Disease.

J Med Chem 2020 04 19;63(7):3610-3633. Epub 2020 Mar 19.

Laboratory of Medicinal Chemistry (Associated Unit to CSIC), Department of Pharmacology, Toxicology and Medicinal Chemistry, Faculty of Pharmacy and Food Sciences, and Institute of Biomedicine (IBUB), University of Barcelona, Av. Joan XXIII, 27-31, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.1021/acs.jmedchem.9b02080DOI Listing
April 2020

Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.

Transl Res 2020 04 27;218:43-56. Epub 2019 Dec 27.

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2019.12.004DOI Listing
April 2020

Pharmacology and preclinical validation of a novel anticancer compound targeting PEPCK-M.

Biomed Pharmacother 2020 Jan 15;121:109601. Epub 2019 Nov 15.

Department of Physiological Sciences, School of Medicine, University of Barcelona, L'Hospitalet del Llobregat, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.biopha.2019.109601DOI Listing
January 2020

How well are we performing the initial assessment of HIV-positive patients? Results from a multicentre cohort in Spain.

HIV Med 2020 02 8;21(2):128-134. Epub 2019 Nov 8.

National Epidemiology Centre, Carlos III Health Institute, Madrid, Spain.

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http://dx.doi.org/10.1111/hiv.12817DOI Listing
February 2020

Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469].

Stem Cell Res 2019 Aug 28;39:101513. Epub 2019 Jul 28.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101513DOI Listing
August 2019

A novel class of multitarget anti-Alzheimer benzohomoadamantane‒chlorotacrine hybrids modulating cholinesterases and glutamate NMDA receptors.

Eur J Med Chem 2019 Oct 17;180:613-626. Epub 2019 Jul 17.

Laboratory of Pharmaceutical Chemistry (CSIC Associated Unit), Faculty of Pharmacy and Food Sciences, Institute of Biomedicine (IBUB), University of Barcelona, Av. Joan XXIII 27-31, E-08028, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmech.2019.07.051DOI Listing
October 2019

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.

Stem Cell Res 2019 08 16;39:101503. Epub 2019 Jul 16.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101503DOI Listing
August 2019

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.

Stem Cell Res 2019 07 22;38:101469. Epub 2019 May 22.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101469DOI Listing
July 2019

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.

J Inherit Metab Dis 2019 05 21;42(3):407-413. Epub 2019 Feb 21.

Centro Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, idiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/jimd.12063DOI Listing
May 2019

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

J Med Genet 2019 04 21;56(4):236-245. Epub 2018 Nov 21.

Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2018-105588DOI Listing
April 2019

Behavioral and Cognitive Improvement Induced by Novel Imidazoline I Receptor Ligands in Female SAMP8 Mice.

Neurotherapeutics 2019 04;16(2):416-431

Pharmacology Section, Department of Pharmacology, Toxicology and Medicinal Chemistry, Faculty of Pharmacy and Food Sciences, and Institut de Neurociències, University of Barcelona, Av. Joan XXIII, 27-31, 08028, Barcelona, Spain.

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http://link.springer.com/10.1007/s13311-018-00681-5
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http://dx.doi.org/10.1007/s13311-018-00681-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554384PMC
April 2019

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Mol Genet Metab 2018 11 26;125(3):266-275. Epub 2018 Sep 26.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.09.008DOI Listing
November 2018

Uric Acid Treatment After Stroke Prevents Long-Term Middle Cerebral Artery Remodelling and Attenuates Brain Damage in Spontaneously Hypertensive Rats.

Transl Stroke Res 2020 Dec 15;11(6):1332-1347. Epub 2018 Sep 15.

Departament de Farmacologia, de Terapèutica i de Toxicologia, Institut de Neurociències, Facultat de Medicina, Universitat Autònoma de Barcelona, 08193, Bellaterra, Cerdanyola del Vallès, Spain.

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http://dx.doi.org/10.1007/s12975-018-0661-8DOI Listing
December 2020

Neuroprotective Effects of the Multitarget Agent AVCRI104P3 in Brain of Middle-Aged Mice.

Int J Mol Sci 2018 Sep 4;19(9). Epub 2018 Sep 4.

Neuroscience Institute, Autonomous University of Barcelona, 08193 Barcelona, Spain.

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http://dx.doi.org/10.3390/ijms19092615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165152PMC
September 2018

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

Oxid Med Cell Longev 2018 20;2018:1246069. Epub 2018 Mar 20.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBERER, IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1155/2018/1246069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884027PMC
October 2018

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

PLoS Genet 2018 04 23;14(4):e1007360. Epub 2018 Apr 23.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain.

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http://dx.doi.org/10.1371/journal.pgen.1007360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933811PMC
April 2018

Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.

Biochem Genet 2018 Oct 13;56(5):533-541. Epub 2018 Apr 13.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, Belgrade, 11010, Serbia.

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http://dx.doi.org/10.1007/s10528-018-9858-5DOI Listing
October 2018

Increasing Polarity in Tacrine and Huprine Derivatives: Potent Anticholinesterase Agents for the Treatment of Myasthenia Gravis.

Molecules 2018 Mar 11;23(3). Epub 2018 Mar 11.

Laboratory of Pharmaceutical Chemistry (CSIC Associated Unit), Faculty of Pharmacy and Food Sciences, and Institute of Biomedicine (IBUB), University of Barcelona, Av. Joan XXIII 27-31, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.3390/molecules23030634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6017698PMC
March 2018

Time Factor and Disc Herniation Size: Are They Really Predictive for Outcome of Urinary Dysfunction in Patients With Cauda Equina Syndrome?

Neurosurgery 2018 12;83(6):1193-1200

The Centre for Spinal Studies and Surgery, QMC, Nottingham University Hospitals NHS Trust, Nottingham, UK.

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http://dx.doi.org/10.1093/neuros/nyx607DOI Listing
December 2018

Tetrasubstituted Imidazolium Salts as Potent Antiparasitic Agents against African and American Trypanosomiases.

Molecules 2018 Jan 16;23(1). Epub 2018 Jan 16.

Laboratory of Organic Chemistry, Faculty of Pharmacy and Food Sciences, University of Barcelona, Barcelona Science Park, Baldiri Reixac 10-12, 08028 Barcelona, Spain.

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http://dx.doi.org/10.3390/molecules23010177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6017328PMC
January 2018

Congenital disorders of glycosylation (CDG): Quo vadis?

Eur J Med Genet 2018 Nov 25;61(11):643-663. Epub 2017 Oct 25.

Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.012DOI Listing
November 2018

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.

Stem Cell Res 2017 08 22;23:173-177. Epub 2017 Jul 22.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.07.021DOI Listing
August 2017

Design, synthesis and in vivo study of novel pyrrolidine-based 11β-HSD1 inhibitors for age-related cognitive dysfunction.

Eur J Med Chem 2017 Oct 4;139:412-428. Epub 2017 Aug 4.

Laboratori de Química Farmacèutica (Unitat Associada al CSIC), Facultat de Farmàcia i Cienciès de l'Alimentació, and Institute of Biomedicine (IBUB), Universitat de Barcelona, Av. Joan XXIII 27-31, Barcelona E-08028, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmech.2017.08.003DOI Listing
October 2017

Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.

Mol Genet Metab 2017 09 25;122(1-2):43-50. Epub 2017 Jul 25.

Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.009DOI Listing
September 2017

Huprine X Attenuates The Neurotoxicity Induced by Kainic Acid, Especially Brain Inflammation.

Basic Clin Pharmacol Toxicol 2018 Jan 19;122(1):94-103. Epub 2017 Sep 19.

Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/bcpt.12852DOI Listing
January 2018

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

PLoS One 2017 29;12(6):e0179456. Epub 2017 Jun 29.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0179456PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491010PMC
September 2017

Design, synthesis and multitarget biological profiling of second-generation anti-Alzheimer rhein-huprine hybrids.

Future Med Chem 2017 06 20;9(10):965-981. Epub 2017 Jun 20.

Laboratory of Pharmaceutical Chemistry (CSIC Associated Unit), Faculty of Pharmacy & Food Sciences, University of Barcelona, Av. Joan XXIII 27-31, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.4155/fmc-2017-0049DOI Listing
June 2017

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

J Inherit Metab Dis 2017 09 24;40(5):709-713. Epub 2017 Mar 24.

Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-017-0028-4DOI Listing
September 2017

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Hum Mutat 2017 06 20;38(6):678-691. Epub 2017 Mar 20.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Universidad Autónoma Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.23208DOI Listing
June 2017

Role of miRNAs in human disease and inborn errors of metabolism.

J Inherit Metab Dis 2017 07 22;40(4):471-480. Epub 2017 Feb 22.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBERER, IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1007/s10545-017-0018-6DOI Listing
July 2017

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

J Pediatr 2017 04 27;183:170-177.e1. Epub 2017 Jan 27.

Center of Molecular Biology-Severo Ochoa, University Autonomous of Madrid-Spanish National Research Council, La Paz Institute for Health Research, Center for Biomedical Research on Rare Diseases, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jpeds.2016.12.060DOI Listing
April 2017

Behavioural effects of novel multitarget anticholinesterasic derivatives in Alzheimer's disease.

Behav Pharmacol 2017 04;28(2 and 3-Spec Issue):124-131

aInstitut de Neurociències bDepartment of Psychiatry and Forensic Medicine cDepartment of Pharmacology, Therapeutics and Toxicology, Autonomous University of Barcelona dLaboratory of Pharmaceutical Chemistry (CSIC Associated Unit), Faculty of Pharmacy and Food Sciences eInstitute of Biomedicine (IBUB), University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1097/FBP.0000000000000292DOI Listing
April 2017

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Hum Mutat 2017 02 21;38(2):160-168. Epub 2016 Nov 21.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.23138DOI Listing
February 2017

Synthesis and biological evaluation of N-cyanoalkyl-, N-aminoalkyl-, and N-guanidinoalkyl-substituted 4-aminoquinoline derivatives as potent, selective, brain permeable antitrypanosomal agents.

Bioorg Med Chem 2016 11 22;24(21):5162-5171. Epub 2016 Aug 22.

Laboratory of Pharmaceutical Chemistry (CSIC Associated Unit), Faculty of Pharmacy and Food Sciences, and Institute of Biomedicine (IBUB), University of Barcelona, Av. Joan XXIII, 27-31, E-08028 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bmc.2016.08.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080452PMC
November 2016

Design, synthesis and biological evaluation of N-methyl-N-[(1,2,3-triazol-4-yl)alkyl]propargylamines as novel monoamine oxidase B inhibitors.

Bioorg Med Chem 2016 10 28;24(20):4835-4854. Epub 2016 Jun 28.

Department of Nutrition, Food Science and Gastronomy, Faculty of Pharmacy and Institute of Biomedicine (IBUB), University of Barcelona, Av. Prat de la Riba 171, E-08921 Santa Coloma de Gramenet, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bmc.2016.06.045DOI Listing
October 2016

Insertion of Isocyanides into N-Si Bonds: Multicomponent Reactions with Azines Leading to Potent Antiparasitic Compounds.

Angew Chem Int Ed Engl 2016 07 17;55(31):8994-8. Epub 2016 Jun 17.

Laboratory of Organic Chemistry, Faculty of Pharmacy, University of Barcelona and Barcelona Science Park, Baldiri Reixac 10-12, 08028, Barcelona, Spain.

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http://dx.doi.org/10.1002/anie.201604109DOI Listing
July 2016

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

J Hum Genet 2016 Aug 28;61(8):731-44. Epub 2016 Apr 28.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1038/jhg.2016.38DOI Listing
August 2016

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Mitochondrion 2016 May 11;28:73-8. Epub 2016 Apr 11.

Division of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.04.001DOI Listing
May 2016

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.

PLoS One 2016 9;11(3):e0150357. Epub 2016 Mar 9.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid / Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, IDIPaz, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0150357PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784912PMC
August 2016

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Genet Med 2016 10 25;18(10):1037-43. Epub 2016 Feb 25.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://www.nature.com/articles/gim2015217
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http://dx.doi.org/10.1038/gim.2015.217DOI Listing
October 2016

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Orphanet J Rare Dis 2015 Oct 26;10:138. Epub 2015 Oct 26.

Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1186/s13023-015-0358-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623922PMC
October 2015

Multicomponent reaction-based synthesis and biological evaluation of tricyclic heterofused quinolines with multi-trypanosomatid activity.

Eur J Med Chem 2015 Nov 19;105:120-37. Epub 2015 Oct 19.

Laboratori de Química Farmacèutica (Unitat Associada al CSIC), Facultat de Farmàcia, and Institut de Biomedicina (IBUB), Universitat de Barcelona, Av. Joan XXIII, 27-31, E-08028, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmech.2015.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4638191PMC
November 2015

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Biochim Biophys Acta 2015 Dec 25;1852(12):2712-21. Epub 2015 Sep 25.

Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2015.09.011DOI Listing
December 2015

Uric Acid Therapy Improves Clinical Outcome in Women With Acute Ischemic Stroke.

Stroke 2015 Aug 9;46(8):2162-7. Epub 2015 Jul 9.

From the Department of Neuroscience, Comprehensive Stroke Center, Hospital Clinic, University of Barcelona, August Pi i Sunyer Biomedical Research Institute (Institut d'Investigacions Biomèdiques Agustí Pi i Sunyer), Barcelona, Spain (L.L., C.L., A.R., V.O., X.U., S.A., Á.C.); Departament de Farmacologia, Terapèutica i Toxicologia, Universitat Autònoma de Barcelona, Bellaterra, Spain (B.P., E.V.); Department of Brain Ischemia and Neurodegeneration, Institute for Biomedical Research of Barcelona, Spanish Research Council, Barcelona, Spain (A.P.); and Institut d'Investigacions Biomèdiques Agustí Pi i Sunyer, Barcelona, Spain (A.P.).

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http://stroke.ahajournals.org/content/early/2015/07/09/STROK
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http://stroke.ahajournals.org/content/46/8/2162.full.pdf
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http://stroke.ahajournals.org/lookup/doi/10.1161/STROKEAHA.1
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http://dx.doi.org/10.1161/STROKEAHA.115.009960DOI Listing
August 2015

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Hum Mutat 2015 Sep 23;36(9):851-60. Epub 2015 Jul 23.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPaZ, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.22817DOI Listing
September 2015

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

PLoS One 2015 8;10(4):e0122966. Epub 2015 Apr 8.

Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Instituto de Investigación Biomédica Hospital La Paz (IdiPAZ), Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390381PMC
March 2016

Synthesis, biological profiling and mechanistic studies of 4-aminoquinoline-based heterodimeric compounds with dual trypanocidal-antiplasmodial activity.

Bioorg Med Chem 2015 Aug 24;23(16):5156-67. Epub 2015 Jan 24.

Laboratori de Química Farmacèutica (Unitat Associada al CSIC), Facultat de Farmàcia, and Institut de Biomedicina (IBUB), Universitat de Barcelona, Av. Joan XXIII, 27-31, E-08028 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bmc.2015.01.031DOI Listing
August 2015

Middle cerebral artery remodeling following transient brain ischemia is linked to early postischemic hyperemia: a target of uric acid treatment.

Am J Physiol Heart Circ Physiol 2015 Apr 30;308(8):H862-74. Epub 2015 Jan 30.

Facultat de Medicina, Departament de Farmacologia, Terapèutica i Toxicologia, Institut de Neurociències, Universitat Autònoma de Barcelona, Bellaterra, Spain;

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http://dx.doi.org/10.1152/ajpheart.00001.2015DOI Listing
April 2015

Uric acid improves glucose-driven oxidative stress in human ischemic stroke.

Ann Neurol 2015 May 13;77(5):775-83. Epub 2015 Mar 13.

Comprehensive Stroke Center, Department of Neuroscience, Hospital Clinic, University of Barcelona and August Pi i Sunyer Biomedical Research Institute, Barcelona.

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http://dx.doi.org/10.1002/ana.24378DOI Listing
May 2015

A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.

Mol Ther Nucleic Acids 2014 Sep 16;3:e193. Epub 2014 Sep 16.

Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, CIBERER, IdiPaz, Madrid, Spain.

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http://dx.doi.org/10.1038/mtna.2014.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222650PMC
September 2014

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts.

Biochem Biophys Res Commun 2014 Sep 23;452(3):457-61. Epub 2014 Aug 23.

Centro de Biología Molecular "Severo Ochoa", UAM-CSIC, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.08.091DOI Listing
September 2014

Shogaol-huprine hybrids: dual antioxidant and anticholinesterase agents with β-amyloid and tau anti-aggregating properties.

Bioorg Med Chem 2014 Oct 7;22(19):5298-307. Epub 2014 Aug 7.

Laboratori de Química Farmacèutica (Unitat Associada al CSIC), Facultat de Farmàcia, and Institut de Biomedicina (IBUB), Universitat de Barcelona, Av. Joan XXIII, 27-31, E-08028 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bmc.2014.07.053DOI Listing
October 2014

Tetrahydrobenzo[h][1,6]naphthyridine-6-chlorotacrine hybrids as a new family of anti-Alzheimer agents targeting β-amyloid, tau, and cholinesterase pathologies.

Eur J Med Chem 2014 Sep 7;84:107-17. Epub 2014 Jul 7.

Laboratori de Química Farmacèutica (Unitat Associada al CSIC), Facultat de Farmàcia, and Institut de Biomedicina (IBUB), Universitat de Barcelona, Av. Joan XXIII, 27-31, E-08028 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmech.2014.07.021DOI Listing
September 2014

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Eur J Hum Genet 2015 Mar 18;23(3):302-9. Epub 2014 Jun 18.

1] Division of Metabolism, University Children's Hospital, Zürich, Switzerland [2] Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.

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http://www.nature.com/articles/ejhg2014114
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http://dx.doi.org/10.1038/ejhg.2014.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326710PMC
March 2015

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

Eur J Pediatr 2014 Dec 24;173(12):1707-10. Epub 2014 May 24.

Division of Nutrition and Metabolism, Ministry of Health, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Ankara, Turkey,

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http://dx.doi.org/10.1007/s00431-014-2330-6DOI Listing
December 2014

Synthesis and multitarget biological profiling of a novel family of rhein derivatives as disease-modifying anti-Alzheimer agents.

J Med Chem 2014 Mar 10;57(6):2549-67. Epub 2014 Mar 10.

Laboratori de Química Farmacèutica (Unitat Associada al CSIC), Facultat de Farmàcia, Universitat de Barcelona , Av. Joan XXIII 27-31, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.1021/jm401824wDOI Listing
March 2014

Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.

Nucleic Acid Ther 2014 Feb;24(1):48-56

1 Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid , Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain .

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http://dx.doi.org/10.1089/nat.2013.0453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922136PMC
February 2014

1,2,3,4-Tetrahydrobenzo[h][1,6]naphthyridines as a new family of potent peripheral-to-midgorge-site inhibitors of acetylcholinesterase: synthesis, pharmacological evaluation and mechanistic studies.

Eur J Med Chem 2014 Feb 18;73:141-52. Epub 2013 Dec 18.

Laboratori de Química Farmacèutica (Unitat Associada al CSIC), Facultat de Farmàcia, and Institut de Biomedicina (IBUB), Universitat de Barcelona, Av. Joan XXIII 27-31, E-08028 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmech.2013.12.008DOI Listing
February 2014

Undifferentiated and differentiated PC12 cells protected by huprines against injury induced by hydrogen peroxide.

PLoS One 2013 23;8(9):e74344. Epub 2013 Sep 23.

Departament de Farmacologia, de Terapèutica i de Toxicologia, Institut de Neurociències, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781080PMC
July 2014

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Eur J Hum Genet 2014 Apr 14;22(4):528-34. Epub 2013 Aug 14.

1] Genomics and Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Barcelona, Spain [2] Universitat Pompeu Fabra (UPF), Barcelona, Spain [3] Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain [4] CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2013.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953903PMC
April 2014

Methylmalonic acidemia and kidney transplantation.

Pediatr Nephrol 2013 Oct 22;28(10):2067-8. Epub 2013 Jun 22.

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http://dx.doi.org/10.1007/s00467-013-2536-2DOI Listing
October 2013

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Hum Mol Genet 2013 Sep 13;22(18):3680-9. Epub 2013 May 13.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO, UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://dx.doi.org/10.1093/hmg/ddt217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749860PMC
September 2013

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

J Hum Genet 2013 May 21;58(5):279-84. Epub 2013 Mar 21.

Unit of Metabolophaties and Nutrition, Department of Pediatrics, Hospital Universitario Virgen del Rocio, Seville, Spain.

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http://dx.doi.org/10.1038/jhg.2013.16DOI Listing
May 2013

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

JIMD Rep 2013 21;8:57-62. Epub 2012 Jul 21.

Paediatric Intensive Care Unit, Hospital Sant Jan de Déu and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Esplugues, Spain.

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http://dx.doi.org/10.1007/8904_2012_161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565672PMC
February 2013