Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (29)

2023

  1. Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis

    Brain Communications, Vol. 5, Núm. 2

  2. Live Cell Adhesion, Migration, and Invasion Assays

    Methods in Molecular Biology (Humana Press Inc.), pp. 313-329

  3. Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

    The Journal of clinical investigation, Vol. 133, Núm. 10

2022

  1. Cardiac fibroblasts display endurance to ischemia, high ROS control and elevated respiration regulated by the JAK2/STAT pathway

    FEBS Journal, Vol. 289, Núm. 9, pp. 2540-2561

  2. M-CSF as a therapeutic target in BRAFV600E melanoma resistant to BRAF inhibitors

    British Journal of Cancer

2021

  1. Clinical consequences of BRCA2 hypomorphism

    npj Breast Cancer, Vol. 7, Núm. 1

  2. Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 4, pp. 544-563

  3. PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

    Neurobiology of Disease, Vol. 148

2020

  1. Gefitinib and afatinib show potential efficacy for fanconi anemia-related head and neck cancer

    Clinical Cancer Research, Vol. 26, Núm. 12, pp. 3044-3057

2019

  1. Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation

    Cell Death and Differentiation, Vol. 26, Núm. 9, pp. 1545-1565

  2. Mitochondrial m.13513G > A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

    JOURNAL OF PEDIATRIC GENETICS, Vol. 8, Núm. 4, pp. 231-234

2018

  1. Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

    EMBO Molecular Medicine, Vol. 10, Núm. 8

  2. Epidemiology of NMOSD in Catalonia: Influence of the new 2015 criteria in incidence and prevalence estimates

    Multiple Sclerosis Journal, Vol. 24, Núm. 14, pp. 1843-1851

  3. Impact of TSH during the first trimester of pregnancy on obstetric and foetal complications: Usefulness of 2.5 mIU/L cut-off value

    Clinical Endocrinology, Vol. 88, Núm. 5, pp. 728-734

2017

  1. Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance

    Aging Cell, Vol. 16, Núm. 6, pp. 1404-1413

  2. Multilayer OMIC Data in medullary thyroid carcinoma identifies the STAT3 pathway as a potential therapeutic target in RETM918T Tumors

    Clinical Cancer Research, Vol. 23, Núm. 5, pp. 1334-1345

2016

  1. Cerebellar ataxia and autoantibodies restricted to glutamic acid decarboxylase 67 (GAD67)

    Journal of Neuroimmunology, Vol. 300, pp. 15-17

  2. Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury

    GLIA, Vol. 64, Núm. 5, pp. 853-874

2015

  1. Deregulation of purine metabolism in Alzheimer's disease

    Neurobiology of Aging, Vol. 36, Núm. 1, pp. 68-80

  2. Neuroinflammatory signals in alzheimer disease and APP/PS1 transgenic mice: Correlations with plaques, tangles, and oligomeric species

    Journal of Neuropathology and Experimental Neurology, Vol. 74, Núm. 4, pp. 319-344