Materials and methods relating to a novel splice variant of...

C - Chemistry – Metallurgy – 12 – N

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C12N 15/12 (2006.01) A61K 31/70 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12N 15/10 (2006.01) C12N 15/11 (2006.01) C12N 15/66 (2006.01) C12Q 1/68 (2006.01) G01N 33/50 (2006.01) A61K 38/00 (2006.01) A61K 48/00 (2006.01)

Patent

CA 2404660

The invention relates to the Na+ dependent glutamate transporter GLAST-1 and a splice variant thereof. A novel splice variant has been found (GLAST-1a) which lacks exon 3 resulting in a loss of about 46 amino acids. The protein is altered in such a way that indicates altered function of the transporter. Indeed, the inventors have surprisingly determined that the splice variant has a reversed transport direction as compared to GLAST-1. Thus, the invention provides materials and methods relating to the splice variant GLAST-1a including the amino acid and nucleic acid sequence; materials and methods relating to the detection in vivo or in vitro of the GLAST-1a; and materials and methods relating to the modulation of excitatory amino acids (EAAs) signalling.

L'invention concerne un transporteur de glutamate Na?+¿ dépendant GLAST-1 et un variant d'épissage de ce dernier. Un nouveau variant d'épissage a été découvert (GLAST-1a), auquel il manque l'exon 3, ce qui signifie une perte d'environ 46 acides aminés. La protéine est altérée d'une manière indiquant une altération de la fonction du transporteur. En effet, les inventeurs ont déterminé curieusement que le variant d'épissage présente une direction de transport inverse par rapport à GLAST-1. Ainsi, l'invention concerne des matières et des procédés portant sur le variant d'épissage GLAST-1a comprenant la séquence d'acides aminés et d'acides nucléiques, des matières et des procédés portant sur la détection in vivo ou in vitro de GLAST-1a, et des matières et des procédés portant sur la modulation de la signalisation des acides aminés excitateurs (AAE).

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