sample of publications

• articles 

  • 520 Systemic administration of PRELP reduces fibrotic traits in a genetic model of progressive fibrosis..  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  144:S318. 2024
  • Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa.  Scientific Reports.  14:1-21. 2024
  • Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors.  Molecular Therapy - Methods and Clinical Development.  27:96-108. 2022
  • Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.  MOLECULAR THERAPY.  30:2680-2692. 2022
  • FPR2 DNA Aptamers for Targeted Therapy of Wound Repair.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  142:2238-2248. 2022
  • Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-beta antagonist and inhibitor of fibrosis.  MATRIX BIOLOGY.  111:189-206. 2022
  • CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.  CLINICAL GENETICS.  101:481-493. 2022
  • Non-viral delivery of CRISPR-Cas9 complexes for targeted gene editing via a polymer delivery system.  GENE THERAPY.  29:157-170. 2022
  • Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  142:1227-1230.e4. 2022
  • Evaluation of systemic gentamicin as translational readthrough therapy for a patient with epidermolysis bullosa simplex with muscular dystrophy owing to PLEC1 pathogenic nonsense variants.  JAMA Dermatology.  158:439-443. 2022
  • Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.  MOLECULAR THERAPY.  29:2008-2018. 2021
  • Efficient CRISPR-Cas9-mediated gene ablation in human keratinocytes to recapitulate genodermatoses: modeling of Netherton syndrome.  Molecular Therapy - Methods and Clinical Development.  18:280-290. 2020
  • Advanced statistical techniques for noninvasive hyperglycemic states detection in mice using millimeter-wave spectroscopy.  IEEE Transactions on Terahertz Science and Technology.  10:237-245. 2020
  • Humanization of tumor stroma by tissue engineering as a tool to improve squamous cell carcinoma xenograft.  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES.  21:1-10. 2020
  • Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.  BRITISH JOURNAL OF DERMATOLOGY.  181:512-522. 2019
  • Oxidative stress imbalance as contributing factor in the establishment of fibrosis in recessive dystrophic epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  139:S631-S631. 2019
  • Early, Non-Invasive Sensing of Sustained Hyperglycemia in Mice Using Millimeter-Wave Spectroscopy.  SENSORS.  19:1-12. 2019
  • Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.  JCI Insight.  4:1-20. 2019
  • Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.  MOLECULAR THERAPY.  27:986-998. 2019
  • CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.  MOLECULAR THERAPY.  26:2592-2603. 2018
  • Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.  Molecular Therapy Nucleic Acids.  11:68-78. 2018
  • 116 Comparative transcriptomic analysis of fibroblasts from two sisters with discordant severe generalized recessive dystrophic epidermolysis bullosa phenotype reveals new molecular markers associated with disease severity.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S212-S212. 2017
  • 601 Common mechanisms and signaling pathways in fibroblasts of cancer-prone genodermatoses.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S295-S295. 2017
  • Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients.  Oncotarget.  8:77385-77399. 2017
  • Classification of skin phenotypes caused by diabetes mellitus using complex scattering parameters in the millimeter-wave frequency range.  Scientific Reports.  7:1-8. 2017
  • Correction of Recessive Dystrophic Epidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary Keratinocytes.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:836-844. 2017
  • In-vivo, non-invasive detection of hyperglycemic states in animal models using mm-wave spectroscopy.  Scientific Reports.  6:1-8. 2016
  • Long-term skin regeneration in xenografts from iPSC teratoma-derived human keratinocytes.  EXPERIMENTAL DERMATOLOGY.  25:736-738. 2016
  • Induction of scleroderma fibrosis in skin-humanized mice by anti-Platelet-Derived Growth Factor receptor agonistic autoantibodies.  Arthritis & Rheumatology.  68:2263-2273. 2016
  • A non-viral gene
    therapy for treatment of recessive dystrophic epidermolysis bullosa.  EXPERIMENTAL DERMATOLOGY.  25:818-820. 2016
  • The transition from linear to highly branched poly(beta-amino ester)s: Branching matters for gene delivery.  Science Advances.  2:1-14. 2016
  • Differential Features between Chronic Skin Inflammatory Diseases Revealed in Skin-Humanized Psoriasis and Atopic Dermatitis Mouse Models.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  136:136-145. 2016
  • Gene editing for the efficient correction of a recurrent COL7A1 mutation in recessive dystrophic epidermolysis bullosa keratinocytes.  Molecular Therapy Nucleic Acids.  5 :1-13. 2016
  • Feeder Layer Cell Actions and Applications.  Tissue Engineering Part B-Reviews.  21:345-353. 2015
  • Innovative therapeutic strategies for recessive dystrophic epidermolysis bullosInnovative therapeutic strategies for recessive dystrophic epidermolysis bullosa.  Actas Dermo-Sifiliograficas.  106:376-382. 2015
  • Tumor initiation by skin Ha-ras-ment.  EXPERIMENTAL DERMATOLOGY.  24:252-253. 2015
  • New experimental models of skin homeostasis and diseases.  Actas Dermo-Sifiliograficas.  106:17-28. 2015
  • Oxidative stress and mitochondrial dysfunction in Kindler syndrome.  Orphanet Journal of Rare Diseases.  9:211:1-10. 2014
  • Long-term skin regeneration from a gene-targeted human epidermal stem cell clone.  MOLECULAR THERAPY.  22:1878-1880. 2014
  • Remote diffuse reflectance spectroscopy sensor for tissue engineering monitoring based on blind signal separation.  Biomedical Optics Express.  5:3231-3237. 2014
  • Tropism-modified AAV vectors overcome barriers to successful cutaneous therapy.  MOLECULAR THERAPY.  22:929-939. 2014
  • Tissue-engineered oral mucosa for mucosal reconstruction in a pediatric patient with hemifacial microsomia and ankyloglossia.  Cleft Palate Craniofacial Journal.  51:146-251. 2014
  • Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  134:571-574. 2014
  • First Symposium of Ichthyosis Experts = I Jornada de expertos en ictiosis.  Actas Dermo-Sifiliograficas.  104:877-882. 2013
  • Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts.  AMERICAN JOURNAL OF HUMAN GENETICS.  93:620-630. 2013
  • Keratinocyte cell lines derived from severe generalized recessive Epidermolysis Bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.  EXPERIMENTAL DERMATOLOGY.  22:601-603. 2013
  • Targeted gene addition in human epithelial stem cells by zinc-finger nuclease-mediated homologous recombination.  MOLECULAR THERAPY.  21:1695-1704. 2013
  • The regenerative potential of fibroblasts in a new diabetes-induced delayed humanised wound healing model.  EXPERIMENTAL DERMATOLOGY.  22:195-201. 2013
  • A humanized mouse model of HPV-associated pathology driven by E7 expression.  PLoS One.  7:1-19. 2012
  • Long-Term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  132:1918-1921. 2012
  • Preclinical corrective gene transfer in Xeroderma pigmentosum human skin stem cells.  MOLECULAR THERAPY.  20:798-807. 2012
  • Human involucrin promoter mediates repression-resistant and compartment-specific LEKTI expression.  HUMAN GENE THERAPY.  23:83-90. 2012
  • Risk assessment in skin gene therapy: viral&-cellular fusion transcripts generated by proviral transcriptional read-through in keratinocytes transduced with self-inactivating lentiviral vectors.  GENE THERAPY.  18:674-681. 2011
  • Development of skin-humanized mouse models of Pachyonychia congenita.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  131:1053-1060. 2011
  • Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts.  MOLECULAR THERAPY.  19:408-416. 2011
  • Development of a bioengineered skin-humanized mouse model for psoriasis: dissecting epidermal-lymphocyte interacting pathways.  AMERICAN JOURNAL OF PATHOLOGY.  177:3112-3124. 2010
  • In vivo assessment of acute UVB responses in normal and xeroderma pigmentosum (XP-C) skin-humanized mouse models.  AMERICAN JOURNAL OF PATHOLOGY.  177:865-872. 2010
  • The first COL7A1 mutation survey in a large Spanish Dystrophic Epidermolysis Bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.  BRITISH JOURNAL OF DERMATOLOGY.  163:155-161. 2010
  • Human embryonic stem-cell derivatives for full reconstruction of the pluristratified epidermis: a preclinical study.  LANCET.  374:1745-1753. 2009
  • Correction of laminin-5 deficiency in human epidermal stem cells by transcriptionally targeted lentiviral vectors.  MOLECULAR THERAPY.  16:1977-1985. 2008
  • Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  128:1565-1575. 2008
  • In vitro and in vivo wound healing-promoting activities of human cathelicidin LL-37.  BRITISH JOURNAL OF DERMATOLOGY.  128:223-236. 2008

• book chapters 

  • Organotypic and humanized animal models of genodermatoses. In: Skin tissue models.  Academic Press. 77-102. 2018
  • Current applications for bioengineered skin. In: Translating regenerative medicine to the clinic. Advances in translational medicine.  Academic Press. 107-120. 2016
  • Bioengineered Skin. In: Skin Biopsy: Perspectives.  INTECH. 261-296. 2011

• conference contributions 

  • Multi-organ characterization of inflammation and fibrosis in a hypomorphic RDEB mouse model 2024
  • Identification of a new molecular modulator of severity in recessive dystrophic epidermolysis bullosa.  S211. 2021
  • CRISPR/Cas9-based gene editing strategies for clinically-relevant ex vivo correction of Recessive Dystrophic Epidermolysis Bullosa.  59-59. 2020
  • Novel players in the establishment and progression of fibrosis in recessive dystrophic epidermolysis bullosa.  71-71. 2020
  • Preliminary safety and efficacy outcomes of a phase I trial of systemic mesenchymal stromal cells for recessive dystrophic epidermolysis bullosa.  57-57. 2020
  • Development of a Netherton Syndrome model based on targeted deletion of SPINK5 in human keratinocytes.  S267-s267. 2019
  • Highly efficient gene-editing strategies for clinically-relevant ex vivo correction of Recessive Dystrophic Epidermolysis Bullosa in primary patient cells 2019
  • Preclinical models for in vivo gene editing of COL7A1 based on delivery of CRISPR/Cas9 to RDEB patient skin by adenoviral vectors 2019
  • Clinically-relevant correction of recessive dystrophic epidermolysis bullosa by dual sgRNA CRISPR/Cas9-mediated gene editing.  A116-A117. 2018
  • Disease Severity Modulators in Recessive Dystrophic Epidermolysis Bullosa.  31-32. 2018
  • Non-invasive Detection and Monitoring of Sustained Glycemic Fluctuations using Mm-Wave Spectroscopy 2018
  • Determination of hyperglycemic states in mice using millimeter-wave sensing 2017
  • Gene editing-mediated excision of mutation-bearing exon 80 of COL7A1 gene for the efficient correction of recessive dystrophic epidermolysis bullosa patient derived-epidermalstem cells 2017
  • Monitoring the evolution of hyperglycemia in mice using mm-wave spectroscopy 2017
  • Fluorescence Spectroscopic Instrument for the Identification of Hyperglycemia 2016
  • Fluorescence spectroscopic instrument for the identification of hyperglycemia.  OTu2C.6. 2016
  • Novedades en el tratamiento de la Epidermolisis Bullosa distrófica /Advances in DEB treatment 2016
  • Síndrome de Netherton: de los modelos animales, al paciente. Ensayo clínico de terapia génica, para Síndrome de Netherton 2016
  • Bioresorbable nanoparticles for drug delivery and targeting. Preparation and application in wound healing.  29-29. 2015
  • Targeted Gene Therapy Approaches for RDEB Due to a Highly Recurrent COL7A1 "Spanish" Mutation 2015
  • Assessment of the performance and fate of adipose-derived mesenchymal stem cells forming part of bioengineered skin equivalents in vitro and in vivo.  99. 2014
  • Identificación de nuevos mecanismos fisiopatológicos en el síndrome de Kindler 2014
  • Cell-based therapy for diabetic wounds: from the bench to the patient 2013
  • Development of bioengineered skin-humanized mouse models for inflammatory skin diseases.  129-129. 2013
  • Fate and function of adipose-derived mesenchymal stem cells (ADMSC) in bioengineered skin equivalents in vitro and in vivo.  129-129. 2013
  • Long-term COLVII expression after histocompatible bioengineered skin transplantation in a COL VII-null RDEB patient 2013
  • Role of mitochondria in the pathogenesis of kindler syndrome.  130-130. 2013
  • Cutaneous gene therapy approach for the correction of congenital generalized lipodystrophy.  98-98. 2012
  • Establishment and characterization of keratinocyte cell lines derived from RDEB patients to assess cell and gene therapies in vitro and in vivo.  98-98. 2012
  • Potential role of oxidative stress from mitochondria in Kindler Syndrome.  82-82. 2012
  • Topical enzyme replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase 1 deficient skin grafts.  89-89. 2012
  • Development of a skin humanized mouse model for transglutaminase 1 deficient lamellar ichthyosis.  71-71. 2011
  • Generación de piel a partir de células madre epidérmicas: estudios preclínicos y extrapolaciones clínicas 2011
  • Human fibroblasts in skin regeneration: A preclinical study in diabetic wound healing.  2-2. 2011
  • In vitro disadvantage of type XVII collagen revertant keratinocytes when cultured for revertant cell therapy.  69-69. 2011
  • In vivo assessment of low-and high-dose of UVB irradiation on xeroderma pigmentosum (XP-C) and differentially pigmented human bioengineered skin.  65-65. 2011
  • In vivo efficacy of human mesenchymal stem cell transplantation in bioingeneered skin-humanized mouse model for psoriasis.  9-9. 2011
  • In vivo efficacy of human mesenchymal stem cell transplantation in bioingeneered skin-humanized mouse model for psoriasis 2011