LOURDES R DESVIAT

Full Professor

Universidad Autónoma de Madrid

Spain

Research Interests

Explore related searches

Professors in Spain Professors in Medical Science Medical Science professors in Spain

Contact this professor

Get a free first email built on one of their papers, ready for you to edit and send yourself.

About

Professor Lourdes R Desviat is a Full Professor at Universidad Autonoma de Madrid Facultad de Ciencias, Spain. Her research primarily focuses on propionic acidemia, investigating its electrophysiological effects through human iPSC-derived cardiomyocytes, and developing novel CRISPR-Cas9 approaches for genetic interventions. She has published extensively on RNA therapeutics for metabolic disorders and the functional analysis of genetic variants associated with inherited organic acidemias.

Articles (14)

Year:

2025

Year:

2025

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2022

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Year:

2020

Year:

2020

Year:

2020

Collaborators (12)

Ronald A.M. Buijsen

Leiden University Medical Center

NETHERLANDS

View details

DAVID GIL ORTEGA

Profesor asociado

Universidad de Murcia

SPAIN

View details

Eva Delpon

Professor of Pharmacology

Universidad Complutense de Madrid

SPAIN

View details

Eva Richard

Universidad Autónoma de Madrid

SPAIN

View details

Maria Giżewska

prof.

Pomeranian Medical University

POLAND

View details

Sandra Alves

Auxiliary Investigator (Staff Scientist). Head of the Lysosomal Storage Diseases Research Group

Instituto Nacional de Saúde Doutor Ricardo Jorge

PORTUGAL

View details

Virginia Arechavala-Gomeza

Ikerbasque Professor

Ikerbasque, Basque Foundation for Science

SPAIN

View details

Marianne Rohrbach

University of Zurich

SWITZERLAND

View details

Michela Alessandra Denti

University of Trento

ITALY

View details

Beat Thony

University of Zurich

SWITZERLAND

View details

Ricardo Caballero

Universidad Complutense de Madrid

SPAIN

View details

Brage Storstein Andresen

Professor

University of Southern Denmark

DENMARK

View details

ApplyKite TwinLearns as you apply

Make your next move.

Prepare your application

Review drafts before you send them.

LOURDES R DESVIAT

Research Interests

Explore related searches

Contact this professor

About

Articles (14)

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

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

Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria

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

Exploring RNA therapeutics for urea cycle disorders

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

Delivery of oligonucleotide-based therapeutics: challenges and opportunities.

Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.

The Genetic Landscape and Epidemiology of Phenylketonuria.

Cardiac Complications of Propionic and Other Inherited Organic Acidemias.

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.

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Proteostasis regulators as potential rescuers of PMM2 activity.

Collaborators (12)

Ronald A.M. Buijsen

DAVID GIL ORTEGA

Eva Delpon

Eva Richard

Maria Giżewska

Sandra Alves

Virginia Arechavala-Gomeza

Marianne Rohrbach

Michela Alessandra Denti

Beat Thony

Ricardo Caballero

Brage Storstein Andresen

Make your next move.