Publications by authors named "Celia Pérez-Cerda"

67Publications

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

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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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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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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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

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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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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February 2017

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

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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October 2015

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.

Pediatrics 2015 Aug 13;136(2):e424-32. Epub 2015 Jul 13.

Red de Investigación en Servicios de Salud en Enfermedades Crónicas (REDISSEC), Spain; Servicio de Evaluación del Servicio Canario de la Salud (SESCS), El Rosario, Spain.

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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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September 2015

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

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.

Mol Genet Metab 2013 Apr 4;108(4):232-40. Epub 2013 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, E-50009 Zaragoza, Spain.

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April 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

DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.

Am J Med Genet A 2012 Aug 11;158A(8):2027-30. Epub 2012 Jul 11.

San Pedro de Alcántara Hospital, Neonatology Unit, Cáceres, Spain.

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August 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

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

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.

Mol Genet Metab 2011 Feb 5;102(2):134-8. Epub 2010 Nov 5.

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

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February 2011

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

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

J Inherit Metab Dis 2010 Aug 8;33(4):405-10. Epub 2010 Jun 8.

Laboratory of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/ Domingo Miral s/n, 50009, Zaragoza, Spain.

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August 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 enigmatic role of tafazzin in cardiolipin metabolism.

Biochim Biophys Acta 2009 Oct 18;1788(10):2003-14. Epub 2009 Jul 18.

University of Amsterdam, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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October 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

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

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

Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

Pediatr Neurol 2007 Apr;36(4):264-7

Neuropediatric Unit, Hospital Virgen de la Salud, Toledo, Spain.

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April 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

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

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