Publicaciones (9) Publicaciones en las que ha participado algún/a investigador/a

2024

  1. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

  2. Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation

    Brain, Vol. 147, Núm. 5, pp. 1899-1913

2022

  1. 2 deoxy-D-glucose augments the mitochondrial respiratory chain in heart

    Scientific reports, Vol. 12, Núm. 1, pp. 6890

2021

  1. 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

    Nature Communications, Vol. 12, Núm. 1

  2. HAP-Multitag, a PET and Positive MRI Contrast Nanotracer for the Longitudinal Characterization of Vascular Calcifications in Atherosclerosis

    ACS Applied Materials and Interfaces, Vol. 13, Núm. 38, pp. 45279-45290

2020

  1. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2018

  1. Mitokondriak eta zahartzea

    Elhuyar: zientzia eta teknika, Núm. 331, pp. 74-77