Olatz Ugarteburu

ugarteburu@clinic.cat 0000-0003-4214-3301

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.
Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

Authors:
Guitart-Mampel M; Gonzalez-Tendero A; Niñerola S; Morén C; Catalán-Garcia M;

(...)

Grau JM; Crispi F; Gratacós E; Garrabou G; Cardellach F .

Reference: Biochimica Et Biophysica Acta-Molecular Basis Of Disease 2018.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Authors:
Matalonga, L; Bravo, M; García-Pelegrí, E; Ugarteburu, O; Vidal, S;

(...)

Dopazo, J; Garcia-Garcia, F; Foulquier, F; Matthijs, G; Mills, P.

Reference: Human Mutation 2017.
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Authors:
Tort, Frederic; Ugarteburu, Olatz; Angeles Torres, Maria; Garcia-Villoria, Judit; Giros, Marisa;

Ruiz, Angeles; Ribes, Antonia.

Reference: Pediatrics 2016.

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

Olatz Ugarteburu

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

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Featured Projects

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

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