Functional genomics of neurodegenerative diseases. PI: Eulàlia Martí Puig


Different classes of RNA molecules that do not encode for proteins (non-coding RNAs or ncRNAs) modulate gene expression through diverse mechanisms and constitute a crucial layer of biological regulation. ncRNAs are specially enriched in the nervous system, where their highly specific and dynamic expression is essential in developmental processes and the correct function of the adult brain. The ncRNA repertoire is fundamental for neuron-specific functions and its perturbation is mechanistically related with neuropathological processes.

The main research interest in our group is to identify ncRNA mechanisms contributing to the onset and progression of age-related neurodegenerative disorders. We aim at understanding disease-driven deregulation of ncRNAs and their role in neuronal dysfunction. Our final purpose is to discover ncRNA-gene expression networks underlying neuro-pathogenic processes with the aim to understand disease mechanisms and identifying pathways for therapeutic intervention.

Eulàlia Martí Puig
Principal investigator

Ana Gamez Valéro
Postdoctoral Researcher

Georgia Escaramís Babiano
Postdoctoral Researcher

Anna Guisado Corcoll
PhD student

Marina Herrero Lorenzo
PhD student

Maria Solaguren Beascoa
PhD student

Identification of non-coding RNAs pathways involved in neurodegenerative diseases pathogenesis.

Therapeutic designs based on the modulation of the activity of non coding RNAs.

RNAs as biomarkers of disease progression.

  • Análisis de ARNs con repeticiones CAG como factores patogénicos en la enfermedad de Huntington: implicaciones translacionales en enfermedades de poliglutamina

SAF2017-88452-R (2018-2020)
Ministerio de Economia y Competitividad

  • Epidemiología y Salud Pública

CB06/02/0058 (2018-2019)
Programa Consolider, accions CIBER, Ministerio de Sanidad y Consumo

  • Identification of small non coding RNAs (sncRNAs) contributing to early neuronal dysfunction in Parkinson's disease (iRPaD)

Ministerio de Econimia y Competitividad

  • Genetic variants in common diseases; non-coding RNA profiles in neurodegenerative disorders; environmental modulators of genetic factors in human disease


For more information for PI publications click in the link:


Creus-Muncunill J, Guisado-Corcoll A, Venturi V, Pantano L, Escaramís G, García de Herreros M, Solaguren-Beascoa M, Gámez-Valero A, Navarrete C, Masana M, Llorens F, Diaz-Lucena D, Pérez-Navarro E, Martí E. Huntington's disease brain-derived small RNAs recapitulate associated neuropathology in mice. Acta Neuropathol. 2021 Feb 6. doi: 10.1007/ s00401-021- 02272-9. PMID: 33547932

Gamez-Valero A, Guisado-Corcoll A, Herrero-Lorenzo M, Solaguren-Beascoa M, Martí E. Non-coding RNAs as sensors of Oxidative Stress in Neurodegeneerative Diseases, Antioxidants (Basel) 2020 Nov 8;9 (11): 1095. doi: 10.3390/ antiox9111095. PMID: 33171576

Vives-Usano M, (26 authors), Martí E, Vrijheid M, Bustamante M. In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children  BMC Med. 2020 Aug 19;18(1): 243. doi: 10.1186/ s12916-020- 01686-8. PMID: 32811491

Pallarès-Albanell J, Zomeño-Abellán MT, Escaramís G, Pantano L, Soriano A, Segura MF, Martí E. A High-Throughput Screening Identifies MicroRNA Inhibitors That Influence Neuronal Maintenance and/or Response to Oxidative Stress. Molecular Therapy Nucleic Acids, Sep 6;17:374-387. doi: 10.1016/ j.omtn.2019.06.007. Epub 2019 Jun 20. PMID: 31302497

Diaz Lucena D; Escaramís G, Villar-Piqué A, Hermann P, Schmitz M, Varges D, Santana I, del Rio JA, Martí E, Ferrer i, Baldeiras i, Zerr i. A new tetra-plex fluorimetric assay for the quantification of cerebrospinal fluid β-amyloid42, total-tau, phospho-tau and α-synuclein in the differential diagnosis of neurodegenerative dementia. J of Neurology, Sep;267(9): 2567-2581. doi: 10.1007/ s00415-020- 09870-9. Epub 2020 May 5. PMID: 32372181

Pantano L, Pantano F, Marti E, Ho Sui S. Visualization of the small RNA transcriptome using seqclusterViz. F1000Res. 2019 Feb 28;8. pii: ISCB Comm J-232. doi: 10.12688 /f1000research. 18142.1. eCollection 2019.PMID: 30984380

Llorens F, Thüne K, Martí E, Kanata E, Dafou D, Díaz-Lucena D, Vivancos A, Shomroni O, Zafar S, Schmitz M, Michel U, Fernández-Borges N, Andréoletti O, Del Río JA, Díez J, Fischer A, Bonn S, Sklaviadis T, Torres JM, Ferrer I, Zerr I. Regional and subtype-dependent miRNA signatures in sporadic Creutzfeldt-Jakob disease are accompanied by alterations in miRNA silencing machinery and biogenesis. PLoS Pathog. 2018 Jan 22;14(1): e1006802. doi: 10.1371/ journal.ppat.1006802. eCollection 2018 Jan. PMID: 29357384

Pagès A, Dotu I, Pallarès-Albanell J, Martí E, Guigó R, Eyras E. The discovery potential of RNA processing profiles. Nucleic Acids Res. 2018 Feb 16;46 (3):e15. doi: 10.1093 /nar/gkx1115. PMID: 29155959

Llorens F, Thüne K, Andrés-Benito P, Tahir W, Ansoleaga B, Hernández-Ortega K, Martí E, Zerr I, Ferrer I. MicroRNA Expression in the Locus Coeruleus, Entorhinal Cortex, and Hippocampus at Early and Middle Stages of Braak Neurofibrillary Tangle Pathology. J Mol Neurosci. 2017 Oct;63(2):206-215. doi: 10.1007/s12031-017-0971-4. Epub 2017 Sep 5. PMID: 28871468

Rué L, Bañez-Coronel M, Creus-Muncunill J, Giralt A, Alcalá-Vida R, Mentxaka G, Kagerbauer B, Zomeño-Abellán MT, Aranda Z, Venturi V, Pérez-Navarro E, Estivill X, Martí E. Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels. J Clin Invest. 2016 Nov 1;126 (11): 4319-4330. doi: 10.1172/ JCI83185. Epub 2016 Oct 10. PMID: 27721240

Martí E. RNA toxicity induced by expanded CAG repeats in Huntington's disease. Brain Pathol. 2016 Nov;26 (6): 779-786. doi: 10.1111/ bpa.12427. Review. PMID: 27529325

Pantano L, Friedländer MR, Escaramís G, Lizano E, Pallarès-Albanell J, Ferrer I, Estivill X, Martí E. Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson's disease revealed by deep sequencing analysis. Bioinformatics. 2016 Mar 1;32 (5): 673-81. doi: 10.1093/ bioinformatics/ btv632. Epub 2015 Nov 2. PMID: 26530722

Friedländer MR, Lizano E, Houben AJ, Bezdan D, Báñez-Coronel M, Kudla G, Mateu-Huertas E, Kagerbauer B, González J, Chen KC, LeProust EM, Martí E, Estivill X. Evidence for the biogenesis of more than 1,000 novel human microRNAs.Genome Biol. 2014 Apr 7;15(4): R57. doi: 10.1186/ gb-2014-15-4-r57. PMID: 24708865

Mateu-Huertas E, Rodriguez-Revenga L, Alvarez-Mora MI, Madrigal I, Willemsen R, Milá M, Martí E*, Estivill X* (co-corresponding). Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes. Neurobiol Dis. 2014 May; 65:43-54. doi: 10.1016 /j.nbd.2013.12.020. Epub 2014 Jan 10. PMID: 24418349

Martí E*, Estivill X*. (co-corresponding) Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases. Front Mol Neurosci. 2013 Dec 3;6: 45. doi: 10.3389/ fnmol.2013.00045. Review. PMID: 24348326

Aigner J, Villatoro S, Rabionet R, Roquer J, Jiménez-Conde J, Martí E, Estivill X. A Common 56-kilobase Deletion in a Primate-Specific Segmental Duplication Creates a Novel Butyrophilin-Like Protein BMC Genetics. BMC Genet. 2013 Jul 6;14:61. doi: 10.1186/ 1471-2156-14-61. PMID: 23829304

Llorens F, Hummel M, Pantano L, Pastor X, Vivancos A, Castillo E, Mattlin H, Ferrer A, Ingham M, Noguera M, Kofler R, Dohm JC, Pluvinet R, Bayés M, Himmelbauer H, del Rio JA, Martí E, Sumoy L. Microarray and deep sequencing cross-platform analysis of the mirRNome and isomiR variation in response to epidermal growth factor. BMC Genomics. 2013 Jun 1;14:371. doi: 10.1186/ 1471-2164-14-371. PMID: 23724959

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Torres-Silva F, Mateu-Huertas E, Lizano E, Friedlander M, Martí E, Estivill X, Milà M. MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients. Genes Brain Behav. 2013 Aug;12(6): 595-603. doi: 10.1111/ gbb.12061. Epub 2013 Jul 24.

Miñones-Moyano E., Friedländer MR, Pallarés J, Kagerbauer B, Porta S, Escaramís G, Ferrer I, Estivill X, Martí E. Upregulation of a small vault RNA (svRNA2-1a) is an early event in Parkinson’s disease and induces neuronal dysfunction. RNA Biol. 2013 Jul;10(7): 1093-106. doi: 10.4161/ rna.24813. Epub 2013 May 1. PMID: 23673382

Llorens  F, Bañez-Coronel M, del Río JA, Ferrer I, Estivill X, Martí E. A highly expressed miR-101 isomiR is a functional silencing small RNA. BMC Genomics. 2013 Feb 15;14: 104. doi: 10.1186/ 1471-2164-14-104. PMID: 23414127

Bañez-Coronel M, Porta S, Kagerbauer B, Mateu E, Pantano L, Ferrer I, Guzmán M, Estivill X & Martí E. A pathogenic mechanism in Huntington’s disease involves small CAG-repeated RNAs with neurotoxic activity. PLoS Genet. 2012;8(2): e1002481. doi: 10.1371/ journal.pgen.1002481. Epub 2012 Feb 23. PMID: 22383888

Pantano L, Estivill X, Martí E. A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome. Bioinformatics. 2011 Nov 15;27(22): 3202-3. doi: 10.1093/ bioinformatics/btr527. Epub 2011 Oct 5. PMID: 21976421

Miñones-Moyano E, Porta S, Escaramís G, Rabionet R, Iraola S, Kagerbauer B, Espinosa-Parrilla Y, Ferrer I, Estivill X, Martí E. MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function. Hum Mol Genet. 2011 Aug 1;20(15): 3067-78. doi: 10.1093/ hmg/ddr210. Epub 2011 May 10. PMID: 21558425

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