16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Maria Sundberg; Hannah Pinson; Richard S. Smith; Kellen D. Winden; Pooja Venugopal; Derek J. C. Tai; James F. Gusella; Michael E. Talkowski; Christopher A. Walsh; Max Tegmark; Mustafa Sahin

doi:10.1038/s41467-021-23113-z

Nature Communications (May 2021)

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Maria Sundberg,
Hannah Pinson,
Richard S. Smith,
Kellen D. Winden,
Pooja Venugopal,
Derek J. C. Tai,
James F. Gusella,
Michael E. Talkowski,
Christopher A. Walsh,
Max Tegmark,
Mustafa Sahin

Affiliations

Maria Sundberg: Department of Neurology, F.M. Kirby Neurobiology Center, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Harvard Medical School
Hannah Pinson: Department of Physics and Center for Brains, Minds & Machines, MIT
Richard S. Smith: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children’s Hospital, Harvard Medical School
Kellen D. Winden: Department of Neurology, F.M. Kirby Neurobiology Center, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Harvard Medical School
Pooja Venugopal: Department of Neurology, F.M. Kirby Neurobiology Center, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Harvard Medical School
Derek J. C. Tai: Center for Genomic Medicine, Massachusetts General Hospital
James F. Gusella: Center for Genomic Medicine, Massachusetts General Hospital
Michael E. Talkowski: Center for Genomic Medicine, Massachusetts General Hospital
Christopher A. Walsh: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children’s Hospital, Harvard Medical School
Max Tegmark: Department of Physics and Center for Brains, Minds & Machines, MIT
Mustafa Sahin: Department of Neurology, F.M. Kirby Neurobiology Center, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Harvard Medical School

DOI: https://doi.org/10.1038/s41467-021-23113-z
Journal volume & issue: Vol. 12, no. 1
pp. 1 – 20

Abstract

Read online

16p11.2 CNVs are associated with neurodevelopmental disorders. Here, the authors show that 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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