Weill Cornell Medicine Events

PINS: The multifaceted roles of TSC-mTOR signaling in neural development, function and disease

Helen Bateup, PhD

Associate Professor of Neurobiology

UC Berkeley

 

Research in my lab broadly aims to understand the cellular and molecular basis of neuropsychiatric disorders. We have a particular interest in “mTORopathies”, which are developmental brain disorders caused by mutations in the mTOR signaling pathway that lead to epilepsy, intellectual disability, and increased risk for autism spectrum disorder. To elucidate disease mechanisms for these disorders, we use genetically-defined mouse and human cellular models in combination with a variety of techniques spanning molecular profiling to behavioral analysis. Our goal is to generate a mechanistic understanding of how disease-associated mutations affect the cell biology and physiology of specific types of neurons, and how altered neuronal activity impacts circuit function and behavior. In addition, we are investigating the early developmental alterations that may contribute to mTOR-related disorders using genetically engineered and patient-derived human brain organoids.

 

Tsc1-mTORC1 signaling controls striatal dopamine release and cognitive flexibility

Kosillo P, Doig NM, Ahmed KM, Agopyan-Miu AHCW, Wong CD, Conyers L, Threlfell S, Magill PJ, and Bateup HS

Nature Communications. November 28, 2019.

PMID: 31780742

 

Genetically engineered human cortical spheroid models of tuberous sclerosis

Blair JD, Hockemeyer D, and Bateup HS

Nature Medicine. October 24, 2018.

PMID: 30127391

 

Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1

Benthall KN, Ong SL, Bateup HS

Cell Reports. June 12, 2018.

PMID: 29898392

Dial-In Information

Email veb2012@med.cornell.edu for zoom link

Thursday, February 25 at 4:00pm to 5:00pm

Virtual Event
Event Type

Lecture/Seminar

Departments

Brain and Mind Research Institute

Mission

Research

Photo Alt Text

PI

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