公开(公告)号：US20230042176A1

公开(公告)日：2023-02-09

申请号：US17786384

申请日：2020-12-18

Applicant: National University of Singapore ,  Singapore Health Services PTE Ltd ,  Agency for Science, Technology and Research

Inventor： Hyunsoo Shawn JE ,  Qiang YUAN ,  Xuyang SUN

IPC: A61K38/17 ,  A61K31/407 ,  A61K31/53 ,  C12N15/113 ,  A61P25/08

Abstract: The present invention relates to methods of treating or ameliorating seizures relating to disruptions in Ubiquitin Protein Ligase E3A (UBE3A) gene. More particularly, the invention relates to the use of BK channel antagonists for the prophylaxis or treatment of seizures in a subject with Angelman syndrome or related autism spectrum disorder (ASD). In some embodiments, BK channel antagonist is Paxilline, iberiotoxin (IBTX) or GAL-021.

公开(公告)号：US20180072988A1

公开(公告)日：2018-03-15

申请号：US15565662

申请日：2016-04-11

Applicant: AGENCY FOR SCIENCE, TECHNOLOGY AND RESEARCH

Inventor： Xuyang SUN ,  Bing LIM

IPC: C12N5/0793 ,  G01N33/50 ,  G01N33/569 ,  C12N15/85

CPC classification number: C12N5/0619 ,  C12N15/85 ,  C12N2501/60 ,  C12N2501/65 ,  C12N2502/086 ,  C12N2506/02 ,  G01N33/5073 ,  G01N33/56966 ,  G01N2800/28

Abstract: The present disclosure provides a method of directly converting a stem cell into a lineage specific cell, comprising the steps of a) transfecting a stem cell with at least one expression vector comprising i) one or more cell lineage reprogramming factors operably linked to an inducible promoter and ii) a selection marker; and b) inducing the transfected stem cell from stem a) with an inducing agent to directly convert said stem cell into a lineage-specific cell. Particularly exemplified are methods of transfecting a stem cell with SA-ASCL1 (phospho-mutant), DLX2, LHX6 and miR-9/9*-124 linked to a doxycycline inducible promoter to convert the stem cell into an inhibitory neuron and transfecting with NeuroD2 linked to a doxycycline inducible promoter to convert a stem cell into an excitatory neuron. Methods of screening one or more factors and/or one or more genetic mutations that modulate a pre-selected activity of the lineage specific cell, kits and directly convertible stem cells obtained using method of the invention are also provided.