Abstract: The present invention relates to compositions and adeno associated viral vectors comprising an optimised HGSNAT nucleic acid sequence of SEQ ID No. 1 or a derivative sequence having at least 77% homology thereof. Uses of such compositions and vectors are also contemplated along with kits of parts for their administration.
Type:
Grant
Filed:
July 12, 2017
Date of Patent:
October 4, 2022
Assignees:
The University of Manchester, Centre Hospitalier Universitaire Sainte-Justine
Inventors:
Alexey Pchejetsky, Brian Bigger, Claire O'Leary
Abstract: The invention identifies Syngap1 dysfunctions as causative of mental retardation. Described are methods of detecting mental retardation and methods of detecting non-syndromic mental retardation (NSMR) in a human subject. Particular methods comprise sequencing a human subject's genomic DNA for comparison with a control sequence from an unaffected individual. Also described are probes, kits, antibodies and isolated mutated Syngap1 proteins.
Type:
Application
Filed:
November 9, 2012
Publication date:
March 14, 2013
Applicants:
CENTRE HOSPITALIER DE L'UNIVERSITE DE MONTREAL, CENTRE HOSPITALIER UNIVERSITAIRE SAINTE-JUSTINE
Inventors:
Centre Hospitalier Universitaire Sainte-Justine, Centre Hospitalier De L'Universite De Montreal
Abstract: The present invention relates to cytokine receptor-binding compounds, such as non-competitive VEGF receptor, IL-1 receptor, IL-4 receptor, or IGF-1 receptor-binding peptides and petidomimetic antagonists, and therapeutic uses of such compounds. The compounds of the present invention may be used in the treatment of cytokine-associated diseases such as proliferative disorders (for example, colon, breast, prostate, and lung cancer), abnormal neovascularization and angiogenesis, age-related macular degeneration, and proliferative and/or inflammatory skin disorders such as psoriasis.
Type:
Application
Filed:
December 15, 2010
Publication date:
June 16, 2011
Applicant:
CENTRE HOSPITALIER UNIVERSITAIRE SAINTE-JUSTINE
Inventors:
Sylvain Chemtob, Christiane Quiniou, Martin Beauchamp
Abstract: The present invention relates to methods and compositions for the prevention and/or treatment of dry age-related macular degeneration by administering a CD 36-activator compound to a subject in need thereof; wherein the CD36 activator compound is the CD36 antibody FA6-152, or the growth hormone (GH)-releasing peptide family-derived compound EP80317 or the compound of Formula 1 [A-(Xaa)a-N(RA)—N(RB)—C(O)-(Xaa?)b-B]; and wherein the activator compound acts to maintain a healthy choroid and retinal oxygenation by enhanced COX2 expression.
Type:
Application
Filed:
February 19, 2009
Publication date:
June 9, 2011
Applicants:
Universite De Montreal, Centre Hospitalier Universitaire Sainte-Justine, INSERM (Institut National de la Sante et de la Recherche Medicale)