C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A01K 67/027 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 5/10 (2006.01) C12Q 1/68 (2006.01) G01N 33/50 (2006.01)
Patent
CA 2348657
The invention concerns the identification and characterisation of the SPG4 gene coding for spastin, and some mutations thereof responsible for the most frequent form of autosomal dominant familial spastic paraplegia, the cloning and the characterisation of its cDNA and the corresponding polypeptides. The invention also concerns vectors, transformed cells and transgenic animals as well as diagnostic methods and kits, and methods for selecting a chemical or biological compound capable of directly or indirectly interacting with said polypeptide.
L'invention concerne l'identification et la caractérisation du gène SPG4 codant pour la spastin, et certaines de ses mutations responsables de la forme la plus fréquente de paraplégie spastique familiale (PSF) autosomique dominante, le clonage et la caractérisation de son ADNc ainsi que les polypeptides correspondants. L'invention concerne également des vecteurs, des cellules transformées et des animaux treansgéniques ainsi que des méthodes et trousses de diagnostic, et des méthodes de sélection d'un composé chimique ou biochimique capable d'interagir directement ou indirectement avec un polypeptide selon l'invention.
Hazan Jamile
Weissenbach Jean
Centre National de La Recherche Scientifique
Norton Rose Or S.e.n.c.r.l. S.r.l./llp
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