Matteo Ruggiu
St. John's University-New York, NY·Neuroscience
A single gene can make several versions of a protein through alternative splicing, in which sections of the RNA message called exons are kept or cut out before the protein is built. The brain uses alternative splicing more than any other tissue, guided by RNA-binding proteins.
- Fields
Neuroscience
Genetics
Biochemistry
- Topics
alternative splicing
RNA splicing
RNA-binding proteins
- Grants
- 1 known grant, last ended Sep 2026
What they work on
- Test whether alternatively spliced exons of CaV3.1, a voltage-gated calcium channel, are used differently across neuron types in the brain, using an RNAseq bioinformatics pipeline that compares splicing across neuronal subclasses.
- Predict how CaV3.1 splicing events are regulated in different neuron types, drawing on the splicing patterns revealed by the RNAseq pipeline and the RNA-binding protein networks that control splicing in the brain.
- Test whether alternative splicing at the CaV3.1 C-terminus, where several disease-linked mutations lie, changes the channel's physiological activity, including its calcium current properties.
More about the research
Small changes in which exons are kept can alter how proteins such as ion channels, the pores that let charged particles cross cell membranes, behave. This project studies CaV3.1, a voltage-gated calcium channel that helps control how easily neurons and muscle cells fire. CaV3.1 is mutated in patients with spinocerebellar ataxia type 42 (SCA42), a disorder of movement coordination. It is also linked to epilepsy and autism spectrum disorders. Several disease-causing mutations fall in exons that are alternatively spliced.
Why it matters
Patients with CaV3.1-related disorders, including spinocerebellar ataxia type 42, epilepsy and autism spectrum disorders, show defects in calcium currents. Learning how alternative splicing tunes this channel in different neurons, and how that tuning is controlled, could clarify how these mutations cause disease. It may also inform the design of new therapeutic strategies.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Arturo Andrade
Brown University, RI·Neuroscience
Determine how the +18a-CaV2.2 and Δ18a-CaV2.2 calcium channel splice variants affect neurotransmitter release at hippocampal synapses, using electrophysiology in brain slices from mice restricted to one variant.
Hongkyun Kim
Rosalind Franklin University of Medicine and Science, IL·Neuroscience
Test whether a high rate of neurotransmitter release lowers the number of CaV2/UNC-2 calcium channels at C. elegans synapses through negative feedback, using a wide range of mutants that disrupt the release of synaptic vesicles (neurotransmitter-filled sacs).
Adam Norris
University of California-Riverside, CA·Genetics
Determine how the broadly expressed RNA binding protein MEC-8/RBPMS produces cell-specific outcomes by identifying its physiologically relevant RNA targets in different C. elegans cell and tissue types.
The school
St. John's University-New York: 2 labs on PI Pages, $5M a year on research, 140 research doctorates a year.
Reach out
A start for your email. Fill in the brackets.