Eulàlia Martí Puig

Functional Genomics of Neurodegenerative Diseases

ORCID Research Profile

Eulàlia Martí Puig

eulalia.marti (at) ub.edu

Research team

 

Ana Gámez

Postdoctoral researcher

 

Georgia Escaramis

Postdoctoral researcher

 

Anna Guisado

PhD student

 

Maria Solaguren-Beascoa

Master student

Contact details

 

Dr. Eulàlia Martí Puig

eulalia.marti (at) ub.edu

www.ub.edu/portal/web/dp-biomedicina/genomica…

Research Interest

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.

Current Research Line

  • Identification of non-coding RNAs involved in neuronal dysfunction associated to Parkinson’s disease
  • Analysis of CAG repeat ARNs as pathogenic factors in Huntington’s disease: translational implications in PolyQ disorders
  • Identification of non-coding RNAs as peripheral diagnostic and prognostic biomarkers in neurodegenerative disorders

Technologies/Methods

We use wet and dry lab techniques, including cell cultures, functional screenings, toxicity assays, immunoassays, RNAseq, RNA seq analyses, data mining and biostatistical approaches.

Highlighted Publications

Rué L, Bañez-Coronel M, Creus-Muncunil J, Giralt A, Alcalà Vida R, Mentxaka G, Kagerbauer B, Zomeño Abellan T, Aranda Z, Venturi V, Perez Navarro E, Estivill X, Martí E. Targeting CAG repeat RNAs reduces Huntington’s disease phenotype independent of huntingtin levels. Journal of Clinical Investigation 126(11): 4319-4330 (2016)

 

Pantano L, Friedländer MR, Escaramis 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, 32(5):673-81 (2015)

 

Friedländer MRLizano EHouben AJBezdan DBáñez-Coronel MKudla GMateu-Huertas EKagerbauer BGonzález JChen KCLeproust EMMartí EEstivill X. Evidence for the biogenesis of more than 1,000 novel human microRNAs. Genome Biol. 15(4):R57 (2014)

 

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. pii: S0969-9961(14)00007-2. (2014)

 

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 Genetics 8(2):e1002481 (2012)