Research area
Bioinformatics and computational biology

STRUCTURAL BIOINFORMATICS

Research

Our work integrates artificial intelligence (AI), among other data science techniques, to study amyloid-forming proteins, amyloid polymorphs, protein aggregation, and neurodegenerative diseases. Our adaptable methods advance precision medicine across various diseases. Our research extends to intrinsically disordered and liquid-liquid phase separation (LLPS) proteins within membrane-less organelles (MLOs), focusing on the process itself, as well as on causes of protein dysfunction such as disease-related mutations. Using protein language models (pLMs), we generate embeddings for wild-type and mutated sequences to identify novel disease-causing mutations in LLPS proteins.
We are currently focused on interpretability: opening the “black box” of pLMs, attention layers, and embeddings to extract meaningful “hidden” biological and biomedical knowledge, linking them to diseases, mutations, and other disease-relevant features

Skills & tools

We have developed a comprehensive suite of databases and computational tools for the analysis of proteins and nucleic acids, facilitating research across various biological domains. Our expertise spans artificial intelligence (AI), programming, big data analysis, and other computational techniques. Combined with deep biological knowledge, we design and implement solutions that not only generate insights but also contextualize results within a biological framework, ensuring meaningful interpretations.

Collaboration interests

  • Disease-related data provision and analysis
  • Amyloidogenesis, protein aggregation, and their role in disease
  • Liquid-liquid phase separation (LLPS) proteins and their biological effects, particularly in disease contexts
  • Protein structure, sequence, and dynamics

Selected publications

  • ORTI, Fernando; FERNÁNDEZ, María Laura; MARINO‐BUSLJE, Cristina. MLOsMetaDB, a meta‐database to centralize the information on liquid–liquid phase separation proteins and membraneless organelles. Protein Science, 2024, vol. 33, no 1, p. e4858.

  • NAVARRO, Alvaro M., et al. DisPhaseDB: An integrative database of diseases related variations in liquid–liquid phase separation proteins. Computational and structural biotechnology journal, 2022, vol. 20, p. 2551-2557.

  • MARTÍNEZ-PÉREZ, Elizabeth; MOLINA-VILA, Miguel Angel; MARINO-BUSLJE, Cristina. Panels and models for accurate prediction of tumor mutation burden in tumor samples. NPJ Precision Oncology, 2021, vol. 5, no 1, p. 31.

Principal investigator

Cristina Marino Buslje, PhD