Publications dans lesquelles il/elle collabore avec Ana Aiastui Pujana (21)

2023

  1. Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

2022

  1. Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

    Cells, Vol. 11, Núm. 19

  2. Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement

    iScience, Vol. 25, Núm. 6

  3. The parkinsonian LRRK2 R1441G mutation shows macroautophagy-mitophagy dysregulation concomitant with endoplasmic reticulum stress

    Cell Biology and Toxicology, Vol. 38, Núm. 5, pp. 889-911

2021

  1. Allosteric modulation of GSK‐3β as a new therapeutic approach in limb girdle muscular dystrophy R1 Calpain 3‐related

    International Journal of Molecular Sciences, Vol. 22, Núm. 14

  2. Patient-specific iPSC-derived cellular models of LGMDR1

    Stem Cell Research, Vol. 53

2020

  1. Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease

    Aging, Vol. 12, Núm. 17, pp. 16690-16708

  2. Toxicity of necrostatin-1 in Parkinson’s disease models

    Antioxidants, Vol. 9, Núm. 6, pp. 1-13

2019

  1. Impaired Mitophagy and Protein Acetylation Levels in Fibroblasts from Parkinson’s Disease Patients

    Molecular Neurobiology, Vol. 56, Núm. 4, pp. 2466-2481

  2. RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits

    Human Molecular Genetics, Vol. 28, Núm. 21, pp. 3552-3568

2018

  1. Acetylome in human fibroblasts from Parkinson’s disease patients

    Frontiers in Cellular Neuroscience, Vol. 12

  2. Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation

    Molecular Neurodegeneration, Vol. 13, Núm. 1

2017

  1. FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway

    Expert Reviews in Molecular Medicine, Vol. 19

2016

  1. Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells

    Stem Cell Reports, Vol. 7, Núm. 3, pp. 411-424

2015

  1. Muscle wasting in myotonic dystrophies: A model of premature aging

    Frontiers in Aging Neuroscience, Vol. 7, Núm. JUN

2014

  1. G2019S LRRK2 mutant fibroblasts from Parkinson's disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy

    Toxicology, Vol. 324, pp. 1-9

  2. LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity

    Human Molecular Genetics, Vol. 23, Núm. 25, pp. 1-18

  3. Leucine-rich repeat kinase 2 modulates cyclooxygenase 2 and the inflammatory response in idiopathic and genetic Parkinson's disease

    Neurobiology of Aging, Vol. 35, Núm. 5, pp. 1116-1124

  4. Murine muscle engineered from dermal precursors: An in vitro model for skeletal muscle generation, degeneration, and fatty infiltration

    Tissue Engineering - Part C: Methods, Vol. 20, Núm. 1, pp. 28-41

2013

  1. Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients

    Human Molecular Genetics, Vol. 22, Núm. 4, pp. 704-716