Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Dive into the research topics where Olatz Ugarteburu Lopez is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome
Ugarteburu, O., Farré-Tarrats, L., Muñoz-Pujol, G., Unceta, M., Las Heras, J. D., Garcia-Ribes, A., Arza-Ruesga, A., de la Morena, B., Arauz-Garofalo, G., Gay, M., Garrabou, G., Corral, J., Vilaseca, M., Ribes, A., García-Villoria, J., Gort, L. & Tort, F., Jan 2026, In: Mitochondrion. 86, 102095.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)1 Downloads (Pure) -
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
Hidalgo-Gutierrez, A., Shintaku, J., Ramon, J., Barriocanal-Casado, E., Pesini, A., Saneto, R. P., Garrabou, G., Milisenda, J. C., Matas-Garcia, A., Gort, L., Ugarteburu, O., Gu, Y., Koganti, L., Wang, T., Tadesse, S., Meneri, M., Sciacco, M., Wang, S., Tanji, K. & Horwitz, M. S. & 8 others, , Dec 2024, In: Annals of Neurology. 96, 6, p. 1209-1224 16 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus) -
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
Muñoz-Pujol, G., Ugarteburu, O., Segur-Bailach, E., Moliner, S., Jurado, S., Garrabou, G., Guitart-Mampel, M., García-Villoria, J., Artuch, R., Fons, C., Ribes, A. & Tort, F., Nov 2023, In: Journal of Inherited Metabolic Disease. 46, 6, p. 1029-1042 14 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
Muñoz-Pujol, G., Ortigoza-Escobar, J. D., Paredes-Fuentes, A. J., Jou, C., Ugarteburu, O., Gort, L., Yubero, D., García-Cazorla, A., O'Callaghan, M., Campistol, J., Muchart, J., Yépez, V. A., Gusic, M., Gagneur, J., Prokisch, H., Artuch, R., Ribes, A., Urreizti, R. & Tort, F., May 2023, In: Brain Pathology. 33, 3, e13134.Research output: Contribution to journal › Article › peer-review
Open AccessFile12 Citations (Scopus)5 Downloads (Pure) -
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
The CIBERER Network, 1 May 2022, In: Clinical Genetics. 101, 5-6, p. 481-493 13 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile13 Citations (Scopus)
Thesis
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Identificación y caracterización de nuevos defectos del metabolismo energético mitocondrial asociados a aciduria 3- metilglutacónica y a la deficiencia del complejo I
Ugarteburu Lopez, O. (Author), 2021Doctoral thesis: Doctoral Thesis
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