Publications en collaboration avec des chercheurs de Universitat de Barcelona (23)

2024

  1. Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder

    Cell Death Discovery, Vol. 10, Núm. 1

  2. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

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. Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

    Antioxidants, Vol. 11, Núm. 4

  3. The HERC proteins and the nervous system

    Seminars in Cell and Developmental Biology, Vol. 132, pp. 5-15

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. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

    Genome Biology, Vol. 21, Núm. 1

  2. HERC1 Ubiquitin Ligase Is Required for Hippocampal Learning and Memory

    Frontiers in Neuroanatomy, Vol. 14

  3. Involvement of the mitochondrial nuclease EndoG in the regulation of cell proliferation through the control of reactive oxygen species

    Redox Biology, Vol. 37

  4. The HERC1 ubiquitin ligase regulates presynaptic membrane dynamics of central synapses

    Scientific Reports, Vol. 10, Núm. 1

  5. Weakly encoded memories due to acute sleep restriction can be rescued after one night of recovery sleep

    Scientific Reports, Vol. 10, Núm. 1

2018

  1. HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System

    Molecular Neurobiology, Vol. 55, Núm. 12, pp. 8856-8868

2017

  1. Abscisic acid and transpiration rate are involved in the response to boron toxicity in Arabidopsis plants

    Physiologia Plantarum, Vol. 160, Núm. 1, pp. 21-32

  2. Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene

    Stem Cell Research, Vol. 24, pp. 144-147

  3. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703

2016

  1. A role for the host in the roadmap to diabetes stem cell therapy

    Diabetes

  2. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  3. Free-thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome

    Brain, Vol. 139, Núm. 1, pp. 31-38

  4. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  5. HERC 1 ubiquitin ligase mutation affects neocortical, CA3 hippocampal and spinal cord projection neurons: An ultrastructural study

    Frontiers in Neuroanatomy, Vol. 10, Núm. APR