Publicacións en colaboración con investigadores/as de University of Cologne (16)

2023

  1. G3BP1-dependent mechanism suppressing protein aggregation in Huntington's models and its demise upon stress granule assembly

    Human molecular genetics, Vol. 32, Núm. 10, pp. 1607-1621

  2. In planta expression of human polyQ-expanded huntingtin fragment reveals mechanisms to prevent disease-related protein aggregation

    Nature Aging, Vol. 3, Núm. 11, pp. 1345-1357

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2020

  1. Author Correction: The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington’s disease patients (Nature Communications, (2018), 9, 1, (2886), 10.1038/s41467-018-05320-3)

    Nature Communications

2019

  1. Induced pluripotent stem cells from Huntington's disease patients: A promising approach to define and correct disease-related alterations

    Neural Regeneration Research, Vol. 14, Núm. 5, pp. 769-770

2018

  1. Insights into the ubiquitin-proteasome system of human embryonic stem cells

    Scientific Reports, Vol. 8, Núm. 1

  2. Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations

    Human molecular genetics, Vol. 27, Núm. 23, pp. 4117-4134

  3. Mechanisms of protein homeostasis (proteostasis) maintain stem cell identity in mammalian pluripotent stem cells

    Cellular and Molecular Life Sciences, Vol. 75, Núm. 2, pp. 275-290

  4. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

    Scientific Reports, Vol. 8, Núm. 1

  5. The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington’s disease patients

    Nature Communications, Vol. 9, Núm. 1

2017

  1. Embryonic stem cells: a novel paradigm to study proteostasis?

    FEBS Journal, Vol. 284, Núm. 3, pp. 391-398

  2. Proteostasis of huntingtin in health and disease

    International Journal of Molecular Sciences, Vol. 18, Núm. 7

2016

  1. Identification of reference genes for quantitative real-time PCR studies in human cell lines under copper and zinc exposure

    BioMetals, Vol. 29, Núm. 5, pp. 935-944

  2. Somatic increase of CCT8 mimics proteostasis of human pluripotent stem cells and extends C. elegans lifespan

    Nature Communications, Vol. 7

2013

  1. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

    European Journal of Human Genetics, Vol. 21, Núm. 2, pp. 162-172

2012

  1. Liver cell transplantation in severe infantile oxalosisa potential bridging procedure to orthotopic liver transplantation?

    Nephrology Dialysis Transplantation, Vol. 27, Núm. 7, pp. 2984-2989