Abstract: A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.
Type:
Application
Filed:
April 7, 2016
Publication date:
July 28, 2016
Applicants:
The Hospital for Sick Children, McGill University, U.S. Government Department of Veterans Affairs, The Regents of the University of California
Inventors:
Stephen W. Scherer, Berge A. Minassian, Antonio Delgado-Escueta, Guy Rouleau
Abstract: A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.
Type:
Application
Filed:
June 24, 2013
Publication date:
February 27, 2014
Applicants:
The Hospital for Sick Children, The Regents of the University of California, U.S. Government Department of Veterans Affairs, McGill University
Inventors:
Stephen W. SCHERER, Berge A. Minassian, Antonio Delgado-Escueta, Guy Rouleau
Abstract: The present invention provides methods for preventing, attenuating neuronal damage or stimulating neuronal repair prior or following central nervous system injury.
Type:
Application
Filed:
April 7, 2012
Publication date:
October 11, 2012
Applicants:
U.S. Government, the Department of Veteran Affairs, The Board of Trustees of the Leland Stanford Junior University
Abstract: Provided herein are conjugate molecules containing a substrate for a nucleoside transport pathway linked to an active agent, wherein the conjugate can be transported into a cell or into the nucleus of a cell via a cellular nucleoside transport pathway. Further provided are methods of delivering a conjugate molecule to a target cell expressing a nucleoside transport pathway, wherein the conjugate contains a substrate for the nucleoside transport pathway linked to an active agent. Also provided are methods for screening for conjugates that are transported by nucleoside transport pathways. Further provided are methods of treating a patient having a disease or disorder affecting tissues expressing nucleoside transport pathways, in which a conjugate containing an agent effective in treating the disorder is administered to the patient. Also provided are methods of treating a patient having an autoimmune disorder involving administering to the patient a compound that inhibits a nucleoside transport pathway.
Type:
Application
Filed:
May 23, 2008
Publication date:
November 27, 2008
Applicants:
THE REGENTS OF THE UNIVERSITY OF CALIFORNIA, U.S. GOVERNMENT, DEPARTMENT OF VETERANS AFFAIRS