Bustos Lab

Graduate Student Mentor

Primary Research Focus

The ubiquitin system controls virtually all aspects of eukaryotic cell biology. This system mediates the covalent modification of proteins by the small modifier ubiquitin in a signaling cascade that involves three enzymatic steps catalyzed by E1 activating, E2 conjugating and E3 ligase enzymes. Ubiquitylation can lead to changes in protein function, localization and fate including their degradation by the 26S proteasome.

The Bustos Lab is focused on clarifying the role of the ubiquitin system in neurodevelopmental disorders with intellectual disabilities. These disorders have devastating effects on patients, their families and health systems. They also constitute a serious unsolved biomedical problem since the molecular mechanisms involved in their genesis are poorly understood and are key to developing effective therapies. Using pluripotent stem cells as a developmental model, our objective is to improve our understanding of the ubiquitylation-related molecular mechanisms that are altered in these diseases.

Current Research Focus:

Tonne-Kalscheuer syndrome: associated with variants in the RLIM - RNF12 gene.

X-linked intellectual developmental disorder 105 (XLID105) associated with variants in the USP27X gene.

Primary Research Group

Pediatrics and Rare Diseases

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