Publications by authors named "Magdalena Ugarte"

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 Dec 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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December 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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April 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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August 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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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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July 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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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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August 2017

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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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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June 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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February 2017

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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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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October 2016

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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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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March 2016

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

Mol Genet Genomic Med 2014 Sep 4;2(5):383-92. Epub 2014 Jun 4.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital Aarhus, Denmark.

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September 2014

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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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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September 2014

The fate of tyrosinaemic Hungarian patients before the NTBC aera.

Ideggyogy Sz 2013 Nov;66(11-12):415-9

University of Szeged, Autonomic University of Madrid, Faculty of Sciencies, Department of Molecular Biology, Madrid, Spain.

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November 2013

Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

J Chromatogr B Analyt Technol Biomed Life Sci 2014 Jan 15;944:141-3. Epub 2013 Nov 15.

Centro de Diagnóstico de Enfermedades Moleculares, CEDEM, Facultad de Ciencias, Módulo 10, Universidad Autónoma de Madrid, 28049 Madrid, Spain. Electronic address:

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January 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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April 2014

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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September 2013

A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.

Hum Mutat 2013 Feb 12;34(2):355-62. Epub 2012 Dec 12.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Departamento de Biología Molecular, Universidad Autónoma de Madrid, CIBERER U746, IDIPAZ, Madrid, Spain.

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February 2013

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

J Inherit Metab Dis 2013 Sep 3;36(5):731-40. Epub 2012 Oct 3.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IdiPAZ, Madrid, Spain.

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September 2013

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

J Inherit Metab Dis 2013 May 14;36(3):535-42. Epub 2012 Sep 14.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIPaz, Universidad Autónoma Madrid, Madrid, Spain.

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May 2013

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.

J Cell Biochem 2013 Jan;114(1):183-91

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

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January 2013

Minigenes to confirm exon skipping mutations.

Methods Mol Biol 2012 ;867:37-47

Centro de Diagnóstico de Enfermedades Moleculares, Madrid, Spain.

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July 2012

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

Hum Mutat 2012 Jun 16;33(6):973-80. Epub 2012 Apr 16.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIPaz, Madrid, Spain.

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June 2012

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Mol Genet Metab 2011 Aug 22;103(4):338-40. Epub 2011 Apr 22.

Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA, USA.

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August 2011

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Hum Mutat 2011 Sep 4;32(9):1019-27. Epub 2011 Aug 4.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad Autónoma de Madrid, Madrid, Spain.

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September 2011

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

J Inherit Metab Dis 2011 Aug 4;34(4):929-39. Epub 2011 May 4.

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, Spain.

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August 2011

Defining the pathogenicity of creatine deficiency syndrome.

Hum Mutat 2011 Mar 8;32(3):282-91. Epub 2011 Feb 8.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Spain.

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March 2011

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.

Biochim Biophys Acta 2010 Nov 6;1802(11):959-67. Epub 2010 Aug 6.

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

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November 2010

Present and future of antisense therapy for splicing modulation in inherited metabolic disease.

J Inherit Metab Dis 2010 Aug 25;33(4):397-403. Epub 2010 Jun 25.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, 28049, Madrid, Spain.

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August 2010

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Hum Mutat 2010 Sep;31(9):1033-42

Centro de Diagnéstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain/Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.

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September 2010

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

J Inherit Metab Dis 2010 Oct 15;33(Suppl 2):S307-14. Epub 2010 Jun 15.

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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October 2010

Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.

J Inherit Metab Dis 2010 Dec 30;33 Suppl 3:S191-8. Epub 2010 Apr 30.

Centro de Diagnóstico de Enfermedades Moleculares, Dpto Biol Mol., Centro Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus Cantoblanco, F Ciencias Modulo 10, 28049, Madrid, Spain.

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December 2010

Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

Clin Biochem 2010 Jan 26;43(1-2):76-81. Epub 2009 Sep 26.

Service de Biochimie, Centre d'Etudes des Maladies Héréditaires du Métabolisme, Hôpital d'Enfants de Rabat et Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Moroccco.

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January 2010

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

Hum Mutat 2009 Nov;30(11):1558-66

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-Severo Ochoa (SO) Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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November 2009

The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro.

Protein J 2009 Aug;28(6):294-9

Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, 11000, Belgrade, Serbia.

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August 2009

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Hum Mutat 2009 May;30(5):795-803

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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May 2009

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

Mol Genet Metab 2009 Apr 20;96(4):171-6. Epub 2009 Jan 20.

Centro de Diagnóstico de Enfermedades Moleculares, UAM-CSIC, Departamento de Biología Molecular, Universidad Autónoma de Madrid, ISCIII, Madrid, Spain.

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April 2009

Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.

Biochem Biophys Res Commun 2009 Feb 25;379(2):267-71. Epub 2008 Dec 25.

Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

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February 2009

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.

Mol Genet Metab 2009 Jan 25;96(1):27-31. Epub 2008 Nov 25.

King's College London, Pharmaceutical Science Division, Franklin Wilkins Building, 150 Stamford Street, London SE1 9NH, UK.

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January 2009

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.

Mol Genet Metab 2008 Sep-Oct;95(1-2):101-3. Epub 2008 Jul 2.

Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain.

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November 2008

Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.

Eur J Pediatr 2009 Jan 12;168(1):103-6. Epub 2008 Apr 12.

Servicio de Pediatría, Complejo Hospitalario Universitario de Albacete, Universidad de Castilla La-Mancha, Albacete, Spain.

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January 2009

Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.

Clin Chem 2008 Jan 16;54(1):93-100. Epub 2007 Nov 16.

Centro de Diagnóstico de Enfermedades Moleculares, Dpto. de Biología Molecular CBM-SO, Facultad de Ciencias, CIBER de Enfermedades Raras, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

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January 2008

Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.

J Chromatogr B Analyt Technol Biomed Life Sci 2007 Dec 22;860(1):121-6. Epub 2007 Oct 22.

Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

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December 2007

New splicing mutations in propionic acidemia.

J Hum Genet 2006 19;51(11):992-997. Epub 2006 Oct 19.

Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, 28049, Madrid, Spain.

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January 2007

Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.

Clin Chim Acta 2006 Nov 12;373(1-2):164-7. Epub 2006 May 12.

Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain.

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November 2006

Mutational spectrum of maple syrup urine disease in Spain.

Hum Mutat 2006 Jul;27(7):715

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain.

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July 2006

Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.

FEBS Lett 2006 Mar 17;580(7):1697-701. Epub 2006 Feb 17.

Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain.

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March 2006

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients.

Mol Genet Metab 2005 Dec 8;86 Suppl 1:S11-6. Epub 2005 Aug 8.

Centro de Biología Molecular Severo Ochoa, CSIC-Universidad Autónoma de Madrid, 28049 Madrid, Spain.

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December 2005

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

Biochim Biophys Acta 2005 Jun 2;1740(3):489-98. Epub 2004 Nov 2.

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Spain.

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June 2005

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Mol Genet Metab 2005 Apr 22;84(4):317-25. Epub 2005 Jan 22.

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

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April 2005

Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase.

J Am Chem Soc 2004 Oct;126(42):13670-8

Contribution from the Centro de Biología Molecular Severo Ochoa, CSIC-UniversidadAutónoma de Madrid, 28049 Madrid, Spain.

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October 2004

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.

Hum Genet 2004 Aug 2;115(3):239-47. Epub 2004 Jul 2.

Dpto. Biología Molecular, Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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August 2004

Fungal metabolic model for type I 3-methylglutaconic aciduria.

J Biol Chem 2004 Jul 4;279(31):32385-92. Epub 2004 Jun 4.

Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Ramiro de Maeztu 9, Madrid 28040, Spain.

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July 2004

Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.

J Biol Chem 2004 Feb 11;279(6):4578-87. Epub 2003 Nov 11.

Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), Ramiro de Maeztu 9, Madrid 28040, Spain.

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February 2004

Hyperammonaemia as a cause of psychosis in an adolescent.

Eur J Pediatr 2003 Nov 27;162(11):773-5. Epub 2003 Aug 27.

Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Ramón y Cajal, Ctra de Colmenar Km 9.1, 28034 Madrid, Spain.

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November 2003

Investigation of folding and degradation of in vitro synthesized mutant proteins in the cytosol.

Methods Mol Biol 2003 ;232:257-63

Centro de Biologia Molecular Severo Ochoa, CSIC-UAM Universidad Autonoma de Madrid Cantoblanco, Madrid, Spain.

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March 2004

Analysis of defective subunit interactions using the two-hybrid system.

Methods Mol Biol 2003 ;232:245-56

Centro de Biologia Molecular Severo Ochoa, CSIC-UAM Universidad Autonoma de Madrid Cantoblanco, Madrid, Spain.

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March 2004

Functional characterization of PCCA mutations causing propionic acidemia.

Biochim Biophys Acta 2002 Nov;1588(2):119-25

Dpto. Biología Molecular, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid, Spain.

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November 2002