Thursday, December 12, 2013
This week in
Publication and contact
pluripotent stem (iPS) cell model of
Phelan-McDermid syndrome (PMDS)
Studies in cell culture
suggest patient-derived iPS cells could be useful for studying PMDS. PMDS is
a form of autism spectrum disorder (ASD) caused by loss-of-function mutations
and multiple ankyrin repeat domains 3 (SHANK3; PROSAP2; SPANK-2). In cell
culture, iPS cell-derived neurons from patients with PMDS had lower levels of
glutamate receptors and showed decreased synaptic connectivity and excitatory
signaling compared with iPS cell-derived neurons from healthy individuals. In
the PMDS neurons, insulin-like growth factor-1 (IGF-1) increased synaptic
maturation and excitatory signaling compared with vehicle. Next steps could
include identifying small molecules that mimic the effect of IGF-1 in PMDS
Researchers at the Icahn
School of Medicine at Mount Sinai are conducting a Phase II
trial of IGF-1 in PMDS.
Published online Dec. 12, 2013
Patent and licensing status
Shcheglovitov, A. et al.
Nature; published online Oct. 16, 2013;
Contact: Ricardo E. Dolmetsch, Novartis Institutes for
BioMedical Research, Cambridge, Mass.
All contents Copyright © 1993-2017 BioCentury Publications, Inc. ALL RIGHTS RESERVED. All use of this Web Site and its contents is governed by the BioCentury User Agreement
. The contents of this Web Site are protected under U.S. and foreign copyright and intellectual property laws, and no part of this Web Site or its contents may be photocopied, reproduced or retransmitted in any form without the written consent of BioCentury, which may be requested from Reprints/Permissions
. BioCentury®; The Bernstein Report on BioBusiness™; The BioCentury 100™; The Clear Route to ROI™; Because Real Intelligence is Hard to Find™; BCIQ™; and BioPharma's Knowledge Center™; are trademarks of BioCentury Publications, Inc., P.O. Box 1246, San Carlos, CA 94070. SciBX® and SciBX: Science-Business eXchange® are trademarks of Nature America, Inc. that are jointly used by BioCentury Publications, Inc. and Nature America, Inc.
Thanks for purchasing this article.
Please bookmark this url for future reference.
We have also sent you a confirming e-mail with a receipt and this same url for your
close [ X ]