Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies

Author:

Lizarraga Sofia B.12ORCID,Ma Li34ORCID,Maguire Abbie M.35,van Dyck Laura I.3,Wu Qing346,Ouyang Qing34,Kavanaugh Brian C.457ORCID,Nagda Dipal3,Livi Liane L.8,Pescosolido Matthew F.3457ORCID,Schmidt Michael3457ORCID,Alabi Shanique9,Cowen Mara H.12ORCID,Brito-Vargas Paul12,Hoffman-Kim Diane81011ORCID,Gamsiz Uzun Ece D.612,Schlessinger Avner9ORCID,Jones Richard N.13ORCID,Morrow Eric M.3457ORCID

Affiliation:

1. Department of Biological Sciences, University of South Carolina, Columbia, SC 29208, USA.

2. Center for Childhood Neurotherapeutics, University of South Carolina, Columbia, SC 29208, USA.

3. Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.

4. Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, RI 02912, USA.

5. Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA.

6. Center for Computational Molecular Biology, Brown University, Providence, RI 02912, USA.

7. Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Emma Pendleton Bradley Hospital, East Providence, RI 02915, USA.

8. Department of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI 02912, USA.

9. Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

10. Robert J. and Nancy D. Carney Institute for Brain Science, Brown University, Providence, RI 02912, USA.

11. Center for Biomedical Engineering, Brown University, Providence, RI 02912, USA.

12. Department of Pathology and Laboratory Medicine, Warren Alpert Medical School of Brown University, Providence, RI 02912, USA.

13. Quantitative Sciences Program, Department of Psychiatry and Human Behavior and Department of Neurology, Warren Alpert Medical School of Brown University, Providence, RI 02912, USA.

Abstract

Neurons from patient-derived iPSCs demonstrate mutation-specific responses to potential therapeutic strategies for Christianson syndrome.

Funder

National Institute of Mental Health

National Institute of General Medical Sciences

Burroughs Wellcome Fund

Angelman Syndrome Foundation

Brown University

National Institute of Neurological Disorders and Stroke and National Institute on Aging

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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