Judit Garcia-Villoria

Research group

Inherited Metabolic Diseases and Muscular Disorders Accredited researcher (R3A)

jugarcia@clinic.cat 0000-0003-2132-4138

Featured publications

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Authors:
Tort, Frederic; Ugarteburu, Olatz; Texido, Laura; Gea-Sorli, Sabrina; Garcia-Villoria, Judit;

(...)

Cardellach, Francesc; Wanders, Ronald J A; Fillat, Cristina; Teresa Garcia-Silva, Maria; Ribes, Antonia.

Reference: Human Mutation 2019.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Authors:
Garcia-Villoria, Judit; De Azua, Begona; Tort, Frederic; Mosegaard, Signe; Ugarteburu, Olatz;

Texido, Laura; Morales-Romero, Blai; Olsen, Rikke K J; Ribes, Antonia.

Reference: Clinical Genetics 2018.
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated ketoacid dehydrogenase complexes

Authors:
Tort, Frederic; Ferrer-Cortes, Xenia; Thio, Marta; Navarro-Sastre, Aleix; Matalonga, Leslie;

(...)

Vianey-Saban, Christine; Artuch, Rafael; Garcia-Cazorla, Angels; Briones, Paz; Ribes, Antonia.

Reference: Human Molecular Genetics 2014.
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Authors:
Garcia Villoria; Judit;

Reference: 2013.
Improvement of the cystine measurement in granulocytes by liquid tandem mass spectrometry

Authors:
Garcia-Villoria, Judit; Hernandez-Perez, Jose Maria; Arias, Angela; Ribes, Antonia;

Reference: Clinical Biochemistry 2013.
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17 beta-hydroxysteroid dehydrogenase 10 deficiency

Authors:
Madrigal, Irene; Fons, Carme; Mila, Montserrat; Briones, Paz; Garcia-Cazorla, Angeles;

Campistol, Jaume; Ribes, Antonia.

Reference: European Journal Of Human Genetics 2010.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

Authors:
Perez-Cerda, Celia; Garcia-Villoria, Judit; Ofman, Rob; Sala, Pedro Ruiz; Merinero, Begona;

(...)

Beseler, Beatriz; Dalmau, Jaime; Wanders, Ronald J A; Ugarte, Magdalena; Ribes, Antonia.

Reference: Pediatric Research 2005.

Featured Projects

Identificación y caracterización de nuevos defectos del metabolismo energético mitocondrial asociados a aciduria 3 -metilglutacónica

Principal investigator: Antonia Ribes Rubio

Funder: Instituto de Salud Carlos III

Code: PI16/01048

Duration: 01/01/2017 - 30/06/2020
An EU rare disease registry for Niemann-Pick disease type A, B and C

Principal investigator: Coll MJ

Code: 308901

Duration: 01/01/2013
Estudios bioquímicos y mutacionales en pacientes con deficiencias primarias de CoQ. Selección bioquímica de pacientes y análisis de la vía metabólica mediante sustratos marcados con isótopos estables.

Funder: Fondo de Investigación Sanitaria

Code: PI08/0307.

Duration: 31/12/2008 - 30/09/2012
06/CENIT: Estudio de proteínas vinculadas a la enfermedad de Alzheimer y a otros procesos neurodegenerativos. Implicaciones terapéuticas

Funder: Ministerio de Industria, Acrónimo: Nanofarma Contrato Nº / Referencia : 24 de Noviembre de 2005, Lipotec-Fundació Clínic Empresa/s que suscriben el contrato: Grupo Lipotec (BCN Peptides, GP Pharm, Di

Duration: 01/01/2006

Judit Garcia-Villoria

Research group

Featured publications

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated ketoacid dehydrogenase complexes

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Improvement of the cystine measurement in granulocytes by liquid tandem mass spectrometry

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17 beta-hydroxysteroid dehydrogenase 10 deficiency

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

Featured Projects

Identificación y caracterización de nuevos defectos del metabolismo energético mitocondrial asociados a aciduria 3 -metilglutacónica

An EU rare disease registry for Niemann-Pick disease type A, B and C

Estudios bioquímicos y mutacionales en pacientes con deficiencias primarias de CoQ. Selección bioquímica de pacientes y análisis de la vía metabólica mediante sustratos marcados con isótopos estables.

06/CENIT: Estudio de proteínas vinculadas a la enfermedad de Alzheimer y a otros procesos neurodegenerativos. Implicaciones terapéuticas

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