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Publications

Selected publications are summarized below. For a complete list, please see our PubMed index

Unraveling neuronal and metabolic alterations in neurofibromatosis type 1: insights from disease models
Botero, V., Tomchik, S.M. (2024)
Journal of Neurodevelopmental Disorders 16:49

Neurofibromatosis type 1 (NF1) is a genetic disorder that predisposes individuals to certain brain disorders, including autism spectrum disorder and attention-deficit/hyperactivity  disorder. Emerging evidence suggest that NF1 alters metabolism, which could contribute to the other symptoms of the disease. This review explores the neuronal and metabolic mechanisms of NF1 as part of the Journal of Neurodevelopmental Disorders Special Section on Translating Progress in the Study of Genetic Conditions to Separate Forms of IDD." Lead author Valentina Botero is recent graduate student (now postdoc) and this review was conceptualized during her doctoral dissertation research.

Modeling neurodegenerative and neurodevelopmental disorders in the Drosophila mushroom body
Stahl, A., Tomchik, S.M. (2024)
Learning & Memory Vol. 31, No. 5, a053816.123

This article is a contribution to the special issue on the mushroom body in Learning and Memory, which marks the 25th anniversary of the original. In this article, we review and discuss how neurodevelopmental disorders and neurodegenerative disorders are modeled in the mushroom body. Within these broad areas, we focus on four major disorders: Alzheimer's disease, Parkinson's disease, neurofibromatosis type 1, and fragile X syndrome. Lead author Aaron Stahl is an Assistant Research Scientist in the lab.

Functional Imaging of Learning-Induced Plasticity in the Central Nervous System with Genetically Encoded Reporters in Drosophila
Boto, T., Tomchik, S.M. (2024)
Cold Spring Harb Protoc 6: pdb.top107799.

In this review, along with the two accompanying protocols, we introduce imaging of the plasticity that underlies learning and memory in the Drosophila nervous system using genetically-encoded fluorescent reporters. These protocols may be of use to researchers learning the techniques for the first time, and/or to provide tips & tricks for those already using such approaches. Lead author Tamara Boto is now an Assistant Professor of Physiology at Trinity College Dublin. If you need access, email Seth or Tamara.

Associative learning drives longitudinally-graded presynaptic plasticity of neurotransmitter release along axonal compartments
Stahl, A., Noyes, N.C., Boto, T., Botero, V., Broyles, V., Jing, M., Zeng, J., King, L.B., Li, Y., Davis, R.L., Tomchik, S.M. (2022)
eLife 11: e76712

In this study, we found that associative learning alters the release of acetylcholine in a compartmentalized manner from neurons that participate in encoding olfactory memories. The project was led by Aaron Stahl, in collaboratation with Nathaniel Noyes, Ronald L. Davis, Yulong Li, and others.

Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila
Botero, V., Stanhope, B.A., Brown, E.B., Grenci, E.C., Boto, T., Park, S.J., King, L.B., Murphy, K.R., Colodner, K.J., Walker, J.A., Keene, A.C., Ja, W.W., Tomchik, S.M. (2021)
Nature Communications
12: 4285

We found that Nf1 regulates metabolic rate via neuronal effects, modulating respiration, lipid stores and turnover, feeding, and starvation resistance, and more. This project was a tour-de-force by graduate student Valentina Botero, who coordinated among 5(!) contributing labs: William Ja, Alex Keene, James Walker, Ken Colodner, and ours.  It has already seeded a series of ongoing follow-up studies.

Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila
King, L.B., Boto, T. Botero, V., Aviles, A.M., Jomsky, B.M., Joseph, C., Walker, J.A., Tomchik, S.M. (2020) PLOS Genetics 16(7): e1008920

Loss of neurofibromin drives increased grooming due to neuronal alterations in Drosophila (King et al., 2016). Examining the mechanisms of the these neuronal effects, we found that they are due to a distributed, developmental effects on certain combinations of neuronal subsets, and are dependent on Nf1 Ras GAP-related domain signaling. This project was led by Lani King, with contributions from other lab members, in collaboration with James Walker.

Dopaminergic neurons participate in several aspects of memory encoding, including modulating the representations of positive and negative valence stimuli. Here we found that a third class of neurons modulate memory strength and may do so in a salience-dependent manner. This project was led by Tamara Boto, currently an Assistant Professor of Physiology at Trinity College Dublin.

Neurofibromatosis type 1 (NF1) affects the nervous system, altering susceptibility to a range of cognitive and behavioral disorders. Here we examined motor function in the genetically powerful Drosophila model. Loss of neurofibromin dramatically increased grooming via neuronal effects, providing a model for NF1 effects on the nervous system. This project was led by postdoc Lani King, with significant contributions from Marta Koch and SURF student Yoheilly Velasquez, in collaboration with Keith Murphy and William Ja.

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