Ruiz Desviat, Lourdes lourdes.ruiz@uam.es
Publications
- Articles 145
- Books 0
- Book chapters 3
- Conferences 7
- Working papers 1
- Technical reports 0
- Research projects 15
- Supervised theses 20
- Patent or software license 1
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
- Fernández-Guerra P
- Navarrete R
- Weisiger K
- Desviat L
- Packman S
- Ugarte M
- Rodríguez-Pombo P
Journal Of Inherited Metabolic Disease (p. S191-8) - 1/1/2010
10.1007/s10545-010-9077-7 View at source
- ISSN 01418955
Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man
- Rivera-Barahona A
- Sánchez-Alcudia R
- Viecelli HM
- Rüfenacht V
- Pérez B
- Ugarte M
- Häberle J
- Thöny B
- Desviat LR
Plos One - 8/4/2015
10.1371/journal.pone.0122966 View at source
- ISSN 19326203
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
- López-Márquez A
- Alonso-Barroso E
- Cerro-Tello G
- Bravo-Alonso I
- Arribas-Carreira L
- Briso-Montiano Á
- Navarrete R
- Pérez-Cerdá C
- Ugarte M
- Pérez B
- Desviat LR
- Richard E
Stem Cell Research - 1/7/2019
10.1016/j.scr.2019.101469 View at source
- ISSN 18735061
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
- Fulgencio-Covián A
- Álvarez M
- Pepers BA
- López-Márquez A
- Ugarte M
- Pérez B
- van Roon-Mom WMC
- Desviat LR
- Richard E
Stem Cell Research - 1/12/2020
10.1016/j.scr.2020.102055 View at source
- ISSN 18735061
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants
- Ruiz Desviat, Lourdes
- Perez Gonzalez, Maria Belen
- Martinez, Maria Angeles
- Rincon, Ana
- Desviat, Lourdes R
- Merinero, Begona
- Ugarte, Magdalena
- Perez, Belen
Molecular Genetics And Metabolism (p. 317-325) - 1/1/2005
10.1016/j.ymgme.2004.11.011 View at source
- ISSN 10967192
Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) With Homocystinuria (MMACHC)
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Richard Rodriguez, Eva Maria
- Perez Gonzalez, Maria Belen
- Richard, Eva
- Jorge-Finnigan, Ana
- Garcia-Villoria, Judit
- Merinero, Begona
- Desviat, Lourdes R
- Gort, Laura
- Briones, Paz
- Leal, Fatima
- Perez-Cerda, Celia
- Ribes, Antonia
- Perez, Belen
Human Mutation (p. 1558-1566) - 1/11/2009
10.1002/humu.21107 View at source
- ISSN 10597794
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Perez Gonzalez, Maria Belen
- Gamez Abascal, Maria Alejandra
- Desviat, L R
- Gamez, A
- Sanchez, A
- Garcia, M J
- Martinez-Pardo, M
- Marchante, C
- Boveda, D
- Baldellou, A
- Arena, J
- Sanjurjo, P
- Fernandez, A
- Cabello, M L
European Journal Of Human Genetics (p. 386-392) - 18/5/1999
10.1038/sj.ejhg.5200312 View at source
- ISSN 10184813
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
- Tighe, O
- Dunican, D
- O'Neill, C
- Bertorelle, G
- Beattie, D
- Graham, C
- Zschocke, J
- Cali, F
- Romano, V
- Hrabincova, E
- Kozak, L
- Nechyporenko, M
- Livshits, L
- Guldberg, P
- Jurkowska, M
- Zekanowski, C
- Perez, B
- Desviat, LR
- Ugarte, M
- Kucinskas, V
- Knappskog, P
- Treacy, E
- Naughten, E
- Tyfield, L
- Byck, S
- Scriver, CR
- Mayne, PD
- Croke, DT;
Human Mutation (p. 387-393) - 12/4/2003
10.1002/humu.10195 View at source
- ISSN 10597794
Genetic heterogeneity in propionic acidemia patients with ¿-subunit defects. Identification of five novel mutations, one of them causing instability of the protein
- Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M
Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 351-358) - 30/3/1999
10.1016/s0925-4439(99)00008-3 View at source
- ISSN 09254439
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Perez Gonzalez, Maria Belen
- Arrabal, Luisa
- Teresa, Libertad
- Sanchez-Alcudia, Rocio
- Castro, Margarita
- Medrano, Celia
- Gutierrez-Solana, Luis
- Roldan, Susana
- Ormazabal, Aida
- Perez-Cerda, Celia
- Merinero, Begona
- Perez, Belen
- Artuch, Rafael
- Desviat, Lourdes R
Neurogenetics (p. 183-191) - 1/8/2011
10.1007/s10048-011-0279-4 View at source
- ISSN 13646745
This researcher has no books.
Minigenes to confirm exon skipping mutations
- Desviat LR, Pérez B, Ugarte M
Methods In Molecular Biology (p. 37-47) - 23/4/2012
10.1007/978-1-61779-767-5_3 View at source
- ISSN 10643745
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2
- Gimenez, Cecilio
- Perez-Siles, Gonzalo
- Martinez-Villarreal, Jaime
- Arribas-Gonzalez, Esther
- Jimenez, Esperanza
- Nunez, Enrique
- de Juan-Sanz, Jaime
- Fernandez-Sanchez, Enrique
- Garcia-Tardon, Noemi
- Ibanez, Ignacio
- Romanelli, Valeria
- Nevado, Julian
- James, Victoria M.
- Topf, Maya
- Chung, Seo-Kyung
- Thomas, Rhys H.
- Desviat, Lourdes R.
- Aragon, Carmen
- Zafra, Francisco
- Rees, Mark I.
- Lapunzina, Pablo
- Harvey, Robert J.
- Lopez-Corcuera, Beatriz;
Journal Of Biological Chemistry (p. 28986-29002) - 1/1/2013
10.1074/jbc.m111.319244 View at source
- ISSN 00219258
- iMarina
- iMarina
DIFFERENT PHENOTYPIC MANIFESTATIONS ASSOCIATED WITH IDENTICAL PHENYLKETONURIA GENOTYPES IN 2 SPANISH FAMILIES
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Perez Gonzalez, Maria Belen
- Garcia, MJ
Journal Of Inherited Metabolic Disease (p. 377-378) - 1/5/1994
10.1007/bf00711839 View at source
- ISSN 01418955
Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity
- Desviat LR, Pérez B, Ugarte M
Journal Of Inherited Metabolic Disease (p. 227-230) - 20/5/1996
10.1007/bf01799436 View at source
- ISSN 01418955
PHENOTYPE DISTRIBUTION IN THE SPANISH PHENYLKETONURIA POPULATION AND RELATED GENOTYPES
- Ugarte Perez, Magdalena
- Ruiz Desviat, Lourdes
- Perez Gonzalez, Maria Belen
- Martinezpardo, M
- Colmenares, AR
- Garcia, MJ
Journal Of Inherited Metabolic Disease (p. 366-368) - 1/5/1994
10.1007/bf00711832 View at source
- ISSN 01418955
Spectrum and origin of phenylketonuria mutations in Spain
- Pérez B, Desviat LR, De Lucca M, Ugarte M
Acta Paediatrica (p. 34-36) - 1/1/1994
10.1111/j.1651-2227.1994.tb13444.x
- ISSN 16512227
- iMarina
Study of the C677T polymorphism and plasma homocysteine levels
- González Martín-Moro B
- Pérez B
- Santiuste Puente C
- Desviat L
- Ugarte M
- Pérez M
- Pardo Vigo A
- Matíes Prats M
Quimica Clinica (p. 41-45) - 12/9/2005
- ISSN 11392436
- iMarina
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism
- Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, Vega AI, Ruíz Desviat L, Pérez B, Pérez-Cerdá C, Merinero B, Ugarte M
Nucleosides Nucleotides & Nucleic Acids (p. 233-240) - 4/4/2014
10.1080/15257770.2013.854381 View at source
- ISSN 15257770
This researcher has no technical reports.
(Grupo CAMIT)
- Cuezva Marcos, Jose Manuel (Investigador principal (IP))
- Garesse Alarcon, Rafael (Investigador principal (IP))
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
- Sanchez Cenizo, Laura (Investigador/a)
- Garcia Bermudez, Javier (Investigador/a)
- Laura Formentini (Investigador/a)
- Margarita Chamorro Bello (Investigador/a)
- Willers, Imke María (Investigador/a)
- Cristina Nuñez de Arenas Flores (Investigador/a)
- Maria Sanchez Arago (Investigador/a)
- Inmaculada Martinez Reyes (Investigador/a)
- Fulvio Santacatterina (Investigador/a)
- Paula Martinez Valero (Investigador/a)
- Paloma Gonzalez Sanchez (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Celia Perez Cerda (Investigador/a)
- Pedro Ruiz Sala (Investigador/a)
- Ugarte Perez, Magdalena (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador/a)
- Sandra Dolores Arduim Brasil (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Gallego Villar, Lorena (Investigador/a)
- Alfonso Luis de Oyarzabal Sanz (Investigador/a)
- Satrustegui Gil Delgado, Jorgina (Investigador principal (IP))
Period: 01-01-2012 - 31-12-2015
- iMarina
Acidemia Propionica: de los modelos y mecanismos hacia biomarcadores y terapias
- PEREZ CERDA, Celia (Investigador/a)
- NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador principal (IP))
Period: 30-12-2016 - 29-12-2019
Type of funding: National
Amount of funding: 169400,00 Euros.
- iMarina
Análisis de los mecanismos moleculares responsables de acidemias orgánicas Nuevas terapias
- Rosa Navarrete Lopez de Soria (Investigador/a)
- Ana Rincon Vela (Investigador/a)
- Sonia Clavero Villarrubia (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Ugarte Perez, Magdalena (Investigador principal (IP))
Period: 13-12-2004 - 12-12-2007
- iMarina
Bases moleculares de acidurias orgánicas en serbia
- Kristel Klaassen (Investigador/a)
- Sonja Pavlovic (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Period: 12-01-2011 - 12-01-2013
- iMarina
Bases moléculares de la respuesta in vivo e in vitro a biotina y vitamina b12 en pacientes con acidemias orgánicas.
- Ruiz Desviat, Lourdes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Period: 31-12-2006 - 30-12-2009
- iMarina
Caracterización funcional de mutaciones de splicing y de parada prematura de la traducción en acidemias orgánicas Investigación en terapias específicas de mutación.
- Sanchez Alcudia, Rocio (Investigador/a)
- Ana Rincon Vela (Investigador/a)
- Ana Jorge Finnigan (Investigador/a)
- Rosa Navarrete Lopez de Soria (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador principal (IP))
Period: 10-01-2007 - 31-12-2010
- iMarina
Cardiomyocytes derived from induced pluripotent stem cells as a new model for therapy development in propionic acidemia
- Richard Rodriguez, Eva Maria (Investigador principal (IP))
- Rivera Barahona, Ana (Investigador/a)
- FULGENCIO COVIAN, ALEJANDRO (Investigador/a)
- ALONSO BARROSO, ESMERALDA (Investigador/a)
- MONTALVO DE LA PRIDA, ELENA (Investigador/a)
- PEREZ CERDA, Celia (Investigador/a)
- Ugarte Perez, Magdalena (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
Period: 14-02-2019 - 15-03-2020
- iMarina
Diagnóstico genético de enfermedades metabólicas hereditarias optimización de un sistema de alto rendimiento de rastreo de mutaciones/snp.
- Rosa Navarrete Lopez de Soria (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Fatima Leal Perez (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Ugarte Perez, Magdalena (Investigador principal (IP))
Period: 01-01-2007 - 31-12-2008
- iMarina
Efecto de vitaminas/cofactores sobre la expresión génica en enfermedades metabólicas hereditarias Nuevas aproximaciones terapéuticas.
- Ana Rincon Vela (Investigador/a)
- Aguado Esteban, Cristina (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador principal (IP))
Period: 01-01-2006 - 31-12-2006
- iMarina
Enfermedades metabólicas hereditarias: avances en diagnóstico clínico, bioquímico y genético.
- Rodriguez Pombo, Pilar (Investigador/a)
- Pedro Ruiz Sala (Investigador/a)
- Ruiz Desviat, Lourdes (Investigador/a)
- Richard Rodriguez, Eva Maria (Investigador/a)
- Celia Perez Cerda (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador/a)
- Begoña Merinero Cortes (Investigador/a)
- Ugarte Perez, Magdalena (Investigador principal (IP))
Period: 01-01-2006 - 31-12-2006
- iMarina
Análisis proteómico cualitativo y cuantitativo por espectrometría de masas en tándem para la identificación de biomarcadores de naturaleza proteica asociados a preeclampsia
- Correas Hornero, Maria Isabel (Autor o Coautor)
- Paradela Elizalde, Alberto (Director)
- Ruiz Desviat, Lourdes (Tutor) Doctorando: Navajas Morillas, Rosa Ana
7/10/2021
- iMarina
Bases moleculares de la acidemia metilmalónica aislada. Efecto de mutaciones sobre la estabilidad de proteínas implicadas en enfermedades metabólicas hereditarias
- Fernandez Piqueras, Jose (Autor o Coautor)
- Ruiz Desviat, Lourdes (Director) Doctorando: Martínez García, María Ángeles
13/1/2006
- iMarina
Bases moleculares de la acidemia propiónica caracterización de la deficiencia en el gen PCCA
- Richard Rodriguez, Eva Maria (Autor o Coautor)
- Eva María Richard Rodríguez (Director)
- Ruiz Desviat, Lourdes (Autor o Coautor) Doctorando: Eva María Richard Rodríguez
1/1/1998
- iMarina
Bases moleculares de la acidemia propiónica. Análisis funcional y estructural de mutaciones PCCA y PCCB
- Satrustegui Gil Delgado, Jorgina (Autor o Coautor)
- Perez Gonzalez, Maria Belen (Director)
- Ruiz Desviat, Lourdes (Director)
- Sonia Clavero Villarrubia (Director) Doctorando: Clavero Villarrubia, Sonia
13/4/2005
- iMarina
Bases moleculares de la fenilcetonuria en Latinoamérica
- Lourdes Ruiz Desviat (Director)
- Magdalena Ugarte (Director) Doctorando: Marisel de Lucca Osorio
1/1/1998
- iMarina
Bases moleculares de la resistencia a insulina durante la última fase de gestación en hígado de rata
- Ruiz Desviat, Lourdes (Director)
- Carrascosa Baeza, Jose Maria (Director) Doctorando: Martínez Martínez, María del Carmen
15/1/1998
- iMarina
Caracterización molecular de CNVs, mutaciones sin sentido y de splicing en enfermedades metabólicas hereditarias investigación en terapias personalizadas
- AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
- Sanchez Alcudia, Rocio (Autor o Coautor)
- Ruiz Desviat, Lourdes (Autor o Coautor)
- Bullido Gomez-Heras, Maria Jesus (Autor o Coautor)
- Fernandez Piqueras, Jose (Autor o Coautor)
- Ruiz Desviat, Lourdes (Director) Doctorando: Sánchez Alcudia, Rocío
1/1/2012
- iMarina
Efecto de mutaciones sobre la estructura-función de la proteína Fenilalanina Hidroxilasa mecanismos moleculares responsables de la respuesta a Tetrahidrobiopterina en Fenilcetonuria
- Bogonez Pelaez, Elena (Autor o Coautor)
- Ruiz Desviat, Lourdes (Director) Doctorando: Pey Rodríguez, Ángel Luis
7/7/2004
- iMarina
Estudios fisiopatológicos para la búsqueda de nuevas dianas terapéuticas en acidemia propiónica mediante la caracterización del modelo murino y el desarrollo de nuevos modelos celulares humanos basados en iPSCs
- ALONSO BARROSO, ESMERALDA (Otros)
- ALONSO BARROSO, ESMERALDA (Autor o Coautor)
- Ruiz Desviat, Lourdes (Director)
- Richard Rodriguez, Eva Maria (Director)
- Fernandez Piqueras, Jose (Autor o Coautor) Doctorando: Alonso Barroso, Esmeralda
29/10/2020
- iMarina
Research groups
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Fisiopatología Y Terapias En Enfermedades Neurometabólicas
Role: Coordinador/a
Researcher profiles
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ORCID
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Publons
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Scopus Author ID
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Dialnet id