Nick Brown lab, UNC-Chapel Hill (https://www.med.unc.edu/pharm/brownlab/)

Expert structural biologists, our collaboration focuses on understanding how mutations in the ubiquitin ligase Anaphase-Promoting Complex (APC) contribute to inherited forms of atypical neurodevelopment. We are also examining the process of substrate recognition and ubiquitination when substrates are protein complexes such as the Chromosome Passenger Complex (CPC). 

Vincenzo Allesandro Gennarino lab, Columbia University (https://www.gennarinolab.com)

We are examining the relationship between the ubiquitin ligase APC and the RNA-binding protein Pumilio1 (Pum1), which interact in neurons. This project connects ubiquitin-mediated protein degradation and mRNA regulation, linking post-transcriptional and post-translational regulation with far-reaching implications. 

Katie Fisch lab, UC San Diego(https://obgyn.ucsd.edu/research/labs/fisch/index.html)

Experts in bioinformatics, we collaborate on the analysis of next-generation sequencing methods ranging from RNAseq, CUT&RUN and Hi-C. 

Sanjay Nigam lab, UC San Diego (https://pediatrics.ucsd.edu/research/faculty-labs/nigam-lab/index.html)

We investigate how chromatin and epigenetic state change at SLC (solute carrier) and ADME (absorption, digestion, metabolism and excretion) genes during the development of the liver, kidney and brain. These genes encode membrane transporters that regulate interorgan communication via small molecules, a process known as ‘remote sensing and signaling’. 

Brandon Gassaway lab, BYU (https://science.byu.edu/directory/brandon-gassaway)

Experts in quantitative mass spectrometry-based proteomics, we collaborate to gain a comprehensive understanding of substrate targeting by degradative pathways in the brain in order to identify molecular mediators of neurologic disease. 

Andrew Mendiola lab, UC San Diego (https://mendiolalab.com)

Experts in neuroinflammation, we collaborate to understand the function of innate immune cells (microglia) in neurodegeneration due to impaired synthesis and turnover of the lysosomal phosphoinonositides PI(3,5)P2 and PI5P. 

Kim Dore lab, UC San Diego (https://neurosciences.ucsd.edu/research/labs/dore/index.html)

Experts in neuronal electrophysiology, we collaborate to understand how epigenetic dysregulation of synaptic genes in mouse models of inherited neurodevelopmental disorders impacts neuronal activity and function.