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Author profile at the institutional portal

Ruiz Desviat, Lourdes lourdes.ruiz@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes

  • Camara-Checa, Anabel
  • Alvarez, Mar
  • Rapun, Josu
  • Perez-Martin, Sara
  • Nunez-Fernandez, Roberto
  • Rubio-Alarcon, Marcos
  • Crespo-Garcia, Teresa
  • Desviat, Lourdes R
  • Delpon, Eva
  • Caballero, Ricardo
  • Richard, Eva
... View more Collapse

JOURNAL OF INHERITED METABOLIC DISEASE - 1/5/2025

  • ISSN 01418955
  • iMarina

Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia

  • Richard, Eva
  • Marchuk, Hannah
  • Alvarez, Mar
  • He, Wentao
  • Chen, Xiaoxin
  • Desviat, Lourdes R
  • Zhang, Guo-Fang
... View more Collapse

CELLULAR AND MOLECULAR LIFE SCIENCES - 2/4/2025

  • ISSN 1420682X
  • iMarina

Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group

  • Cavazza, Alessia
  • Molina-Estevez, Francisco J
  • Molina-Estevez, Francisco J
  • Reyes, alvaro Plaza
  • Ronco, Victor
  • Naseem, Asma
  • Malensek, Spela
  • Pecan, Peter
  • Santini, Annalisa
  • Heredia, Paula
  • Aguilar-Gonzalez, Araceli
  • Boulaiz, Houria
  • Ni, Qianqian
  • Cortijo-Gutierrez, Marina
  • Pavlovic, Kristina
  • Herrera, Inmaculada
  • de la Cerda, Berta
  • Garcia-Tenorio, Emilio M
  • Garcia-Tenorio, Emilio M
  • Richard, Eva
  • Granados-Principal, Sergio
  • Lopez-Marquez, Aristides
  • Kober, Mariana
  • Stojanovic, Marijana
  • Vidakovic, Melita
  • Santos-Garcia, Irene
  • Blazquez, Lorea
  • Haughton, Emily
  • Yan, Dongnan
  • Sanchez-Martin, Rosario Maria
  • Mazini, Loubna
  • Aseguinolaza, Gloria Gonzalez
  • Miccio, Annarita
  • Rio, Paula
  • Desviat, Lourdes R
  • Desviat, Lourdes R
  • Goncalves, Manuel A F V
  • Goncalves, Manuel A F V
  • Peng, Ling
  • Jimenez-Mallebrera, Cecilia
  • Molina, Francisco Martin
  • Gupta, Dhanu
  • Lainscek, Dusko
  • Luo, Yonglun
  • Benabdellah, Karim
... View more Collapse

Molecular Therapy-Nucleic Acids - 11/3/2025

  • ISSN 21622531
  • iMarina

Novel CRISPR-Cas9 iPSC knockouts for PCCA and PCCB genes: advancing propionic acidemia research

  • Garcia-Tenorio, Emilio M
  • Alvarez, Mar
  • Desviat, Lourdes R
  • Richard, Eva

Human Cell - 5/3/2025

  • ISSN 09147470
  • iMarina

The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia

  • Wang Y
  • Zhu S
  • He W
  • Marchuk H
  • Richard E
  • Desviat LR
  • Young SP
  • Koeberl D
  • Kasumov T
  • Chen X
  • Zhang GF
... View more Collapse

BASIC RESEARCH IN CARDIOLOGY (p. 1045-1062) - 11/7/2024

10486/718102 View at source

  • ISSN 03008428

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice

  • Martínez-Pizarro A
  • Picó S
  • López-Márquez A
  • Rodriguez-López C
  • Montalvo E
  • Alvarez M
  • Castro M
  • Ramón-Maiques S
  • Pérez B
  • Lucas JJ
  • Richard E
  • Desviat LR
... View more Collapse

Human Molecular Genetics (p. 1074-1089) - 5/6/2024

10.1093/hmg/ddae051 View at source

  • ISSN 14602083

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

  • Petersen, USS
  • Dembic, M
  • Martinez-Pizarro, A
  • Richard, E
  • Holm, LL
  • Havelund, JF
  • Doktor, TK
  • Larsen, MR
  • Faergeman, NJ
  • Desviat, LR
  • Andresen, BS
... View more Collapse

Molecular Therapy-Nucleic Acids - 12/3/2024

10.1016/j.omtn.2023.102101 View at source

  • ISSN 21622531

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.

  • Schumann A
  • Martinez-Pizarro A
  • Richard E
  • Schell C
  • Kössinger AL
  • Zeyer KA
  • Tholen S
  • Schilling O
  • Barry M
  • Neubauer B
  • Köttgen M
  • Hannibal L
  • Desviat LR
  • Spiekerkötter U
... View more Collapse

Scientific Reports (p. 30478-30478) - 1/12/2024

  • ISSN 20452322
  • iMarina

Exploring RNA therapeutics for urea cycle disorders

  • Richard, Eva
  • Martinez-Pizarro, Ainhoa
  • Desviat, Lourdes R

Journal Of Inherited Metabolic Disease (p. 1269-1277) - 24/10/2024

  • ISSN 01418955
  • iMarina

Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia

  • Martinez-Pizarro, Ainhoa
  • Calmels, Nadege
  • Schalk, Audrey
  • Wicker, Camille
  • Richard, Eva
  • Desviat, Lourdes R

Gene (p. 147902-147902) - 30/1/2024

10.1016/j.gene.2023.147902

  • ISSN 03781119
  • iMarina

This researcher has no books.

Minigenes to confirm exon skipping mutations

  • Desviat, Lourdes R
  • Perez, Belen
  • Ugarte, Magdalena

Methods In Molecular Biology (p. 37-47) - 23/4/2012

10.1007/978-1-61779-767-5_3 View at source

  • ISSN 10643745

RNA-Based Therapies for Inherited Metabolic Diseases

  • Pérez B
  • Ugarte M
  • Desviat LR

Rna Technologies (p. 357-370) - 1/1/2012

10.1007/978-3-642-27426-8_14 View at source

  • ISSN 21979731

Mitochondrial organic acidurias. Part II: Mitochondrial dysfunction

  • Richard, Eva
  • Rodríguez Pombo, Pilar
  • Ruiz Desviat, Lourdes
  • Pérez González, María Belén
  • Merinero, B
  • Pérez-Cerdá, Celia
  • Ugarte Pérez, Magdalena
... View more Collapse

Mitochondrial Pathophysiology (p. 173,191-191) - 1/1/2011

  • iMarina

Proteostasis regulators as a possible mutation-specific therapeutic approach for PMM2-CDG

  • Gallego, D
  • Vilas, A
  • Yuste, P
  • Desviat, L R
  • Ugarte, M
  • Perez-Cerda, C
  • Gamez, A
  • Perez, B
... View more Collapse

EUROPEAN JOURNAL OF HUMAN GENETICS (p. 1354-1354) - 1/10/2019

  • ISSN 10184813
  • iMarina

Improving the diagnosis of cobalamin and related defects by genomic analysis and functional and structural assessment of the variants identified

  • Brasil, S
  • Leal, F
  • Vega, A
  • Rodriguez-Pombo, P
  • Desviat, L R
  • Ugarte, M
  • Perez-Cerda, C
  • Merinero, B
  • Perez, B
... View more Collapse

EUROPEAN JOURNAL OF HUMAN GENETICS (p. 288-288) - 1/10/2018

  • ISSN 10184813
  • iMarina

Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism

  • Castro, M
  • Carrillo, R
  • Garcia, F
  • Sanz, P
  • Ferrer, I
  • Ruiz-Sala, P
  • Vega, A I
  • Ruiz Desviat, L
  • Perez, B
  • Perez-Cerda, C
  • Merinero, B
  • Ugarte, M
... View more Collapse

Nucleosides Nucleotides & Nucleic Acids (p. 233-240) - 4/4/2014

10.1080/15257770.2013.854381 View at source

  • ISSN 15257770

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
... View more Collapse

Journal Of Biological Chemistry (p. 28986-29002) - 1/1/2013

10.1074/jbc.m111.319244 View at source

  • ISSN 00219258

Study of the C677T polymorphism and plasma homocysteine levels

  • González Martín-Moro B
  • Pérez B
  • Santiuste Puente C
  • Desviat LR
  • Ugarte M
  • Pérez ML
  • Pardo Vigo A
  • Matíes Prats M
... View more Collapse

Quimica Clinica (p. 41-45) - 12/9/2005

  • ISSN 11392436
  • iMarina

Functional characterization of MCC mutations associated to methylcrotonylglycinuria.

  • Desviat, LR
  • Perez-Cerda, C
  • Esparza-Gordillo, J
  • Perez, B
  • Rodriguez-Pombo, P
  • Rodriguez, JM
  • de Cordoba, SR
  • Peñalva, MA
  • Ugarte, M
... View more Collapse

American Journal Of Human Genetics (p. 480-480) - 1/10/2001

  • ISSN 00029297
  • iMarina

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

  • Muro, S
  • Perez, B
  • Desviat, LR
  • Rodriguez-Pombo, R
  • Perez-Carda, C
  • Ugarte, M

American Journal Of Human Genetics (p. 480-480) - 1/10/2001

  • ISSN 00029297
  • iMarina

Mutations in the human genes encoding the MCCA and MCCB subunits of the 3-methylcrotonyl-CoA carboxylase in methylcrotonylglycinuria patients.

  • de Cordoba, SR
  • Gallardo, ME
  • Esparza, J
  • Rodriguez, JM
  • Desviat, LR
  • Perez-Cerda, C
  • Perez, B
  • Rodriguez-Pombo, P
  • Navarrete, R
  • Ribes, A
  • Le, TP
  • Gibson, M
  • Penalva, MA
  • Ugarte, M
... View more Collapse

American Journal Of Human Genetics (p. 291-291) - 1/10/2000

  • ISSN 00029297
  • iMarina

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity

  • Desviat, LR
  • Perez, 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

  • MARTINEZPARDO, M
  • COLMENARES, AR
  • GARCIA, MJ
  • PEREZ, B
  • DESVIAT, LR
  • UGARTE, M

Journal Of Inherited Metabolic Disease (p. 366-368) - 1/5/1994

10.1007/bf00711832 View at source

  • ISSN 01418955

A new PKU mutation associated with haplotype 12

  • Desviat LR
  • Pérez B
  • Ugarte M

Human Molecular Genetics (p. 765-6) - 1/12/1992

10.1093/hmg/1.9.765 View at source

  • ISSN 14602083

This researcher has no technical reports.

A European Training Program to Foster the Full Therapeutic Potential of Antisense Technology across Tissues

  • Ruiz Desviat, Lourdes (Investigador/a)

Period: 01-01-2025 - 31-12-2028

Amount of funding: 2951611,20 Euros.

  • iMarina

Enfermedades neurometabólicas raras: de la investigación en nuevos modelos de enfermedad a terapias dirigidas

  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • Ruiz Desviat, Lourdes (Investigador principal (IP))
  • Álvarez García, Mar (Investigador/a)
  • MONTALVO DE LA PRIDA, ELENA (Investigador/a)
  • MARTINEZ PIZARRO, AINHOA (Investigador/a)

Period: 01-09-2023 - 31-08-2026

Type of funding: National

Amount of funding: 237500,00 Euros.

  • iMarina

Mecanismos responsables del fenotipo patológico en enfermedades neurometabólicas raras y aproximaciones terapéuticas personalizadas

  • Álvarez García, Mar (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • MARTINEZ PIZARRO, AINHOA (Investigador/a)
  • FULGENCIO COVIAN, ALEJANDRO (Investigador/a)
  • ALONSO BARROSO, ESMERALDA (Investigador/a)
  • MONTALVO DE LA PRIDA, ELENA (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador principal (IP))
... View more Collapse

Period: 01-06-2020 - 31-05-2023

Type of funding: National

Amount of funding: 145200,00 Euros.

  • 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)
... View more Collapse

Period: 14-02-2019 - 15-03-2020

  • iMarina

Acidemia Propionica: de los modelos y mecanismos hacia biomarcadores y terapias

  • MONTALVO DE LA PRIDA, ELENA (Investigador/a)
  • ALONSO BARROSO, ESMERALDA (Investigador/a)
  • FULGENCIO COVIAN, ALEJANDRO (Investigador/a)
  • NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • Ruiz Desviat, Lourdes (Investigador principal (IP))
  • PEREZ CERDA, Celia (Investigador/a)
... View more Collapse

Period: 30-12-2016 - 29-12-2019

Type of funding: National

Amount of funding: 169400,00 Euros.

  • iMarina

Estudios in vitro e in vivo de vías celulares alteradas y terapias genéticas en enfermedades neurometabólicas

  • NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • Ruiz Desviat, Lourdes (Investigador principal (IP))
  • Rosa Maria Navarrete Lopez de Soria (Investigador/a)

Period: 01-01-2014 - 31-12-2016

  • iMarina

(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))
... View more Collapse

Period: 01-01-2012 - 31-12-2015

  • 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

Investigación en variantes estructurales del genoma implicadas en EMH y en nuevas terapias para rescatar defectos de splicing y de parada de la traducción.

  • Rosa Maria Navarrete Lopez de Soria (Investigador/a)
  • Sanchez Alcudia, Rocio (Investigador/a)
  • Gallego Villar, Lorena (Investigador/a)
  • Ana Jorge Finnigan (Investigador/a)
  • Rosa Navarrete Lopez de Soria (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador principal (IP))

Period: 01-01-2010 - 31-12-2013

  • 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

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

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)
  • Ruiz Desviat, Lourdes (Director)
  • Richard Rodriguez, Eva Maria (Director)
  • Fernandez Piqueras, Jose (Autor o Coautor) Doctorando: Alonso Barroso, Esmeralda

29/10/2020

  • iMarina

Investigación traslacional en las cardiomiopatías asociadas a la acidemia propiónica.

  • Fernandez Piqueras, Jose (Autor o Coautor)
  • Ruiz Desviat, Lourdes (Director)
  • Richard Rodriguez, Eva Maria (Director)

1/1/2020

  • iMarina

Identificación y caracterización de mutaciones de splicing en pacientes con hiperfenilalaninemia; aproximaciones terapéuticas específicas de RNA

  • Ruiz Desviat, Lourdes (Director)
  • MARTINEZ PIZARRO, AINHOA (Autor o Coautor) Doctorando: Martínez Pizarro, Ainhoa

12/4/2019

  • iMarina

Estudios genéticos y fisiopatológicos para la búsqueda de nuevos biomarcadores y terapias en acidemia propiónica

  • Ruiz Desviat, Lourdes (Director) Doctorando: Rivera Barahona, Ana

27/3/2019

  • iMarina

Implementación de las técnicas de secuenciación masiva para la elaboración de nuevos algoritmos diagnósticos e identificación de nuevos genes en distrofias de retina

  • Fernandez Piqueras, Jose (Autor o Coautor)
  • AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
  • Antiñolo Gil, Guillermo (Director)
  • Ruiz Desviat, Lourdes (Tutor) Doctorando: Nereida Inés Bravo Gil

19/5/2017

  • iMarina

Metabolismo energético en patología y su traslación a la clínica

  • Ruiz Desviat, Lourdes (Autor o Coautor)
  • Cuezva Marcos, Jose Manuel (Director) Doctorando: Santacatterina, Fulvio

14/7/2016

  • iMarina

Estudios genéticos, fisiopatológicos y con oligonucleótidos antisentido en enfermedades neurometabólicas

  • Lorena Gallego Villar

1/1/2015

  • iMarina

Identificación y caracterización de las proteínas que interaccionan con SHOX y SHOX2

  • Ruiz Desviat, Lourdes (Autor o Coautor)
  • Heath, Karen Elise (Director) Doctorando: Barca Tierno, Verónica

20/6/2013

  • iMarina

Caracterización molecular de CNVs, mutaciones sin sentido y de splicing en enfermedades metabólicas hereditarias investigación en terapias personalizadas

  • Ruiz Desviat, Lourdes (Director) Doctorando: Sánchez Alcudia Rocío

1/1/2012

  • iMarina

Splice shifting oligonucleotides for use in the treatment of diseases characterized by altered inclusion of microexons

  • Ruiz Desviat, Lourdes (Autor o Coautor)

1/1/2022

  • iMarina
Last data update: 11/24/25 9:34 PM