Bace455, an alternative splice variant of the human...

C - Chemistry – Metallurgy – 12 – N

Patent

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C12N 9/64 (2006.01) C07K 14/47 (2006.01)

Patent

CA 2543837

The present invention relates generally to the fields of genetics, biochemistry, medicinal chemistry and medicine. The present invention more particularly discloses the identification of a human gene variant involved in neuropathological conditions, and methods for the diagnosis, prevention and treatment of such diseases and related disorders, as well as for the screening of therapeutically active drugs. The present invention relates to catalytically active beta-secretase (Memapsin2, BACE) variants, and nucleic acids encoding them. The invention is useful in the identification of agents that inhibit the activity of a particular BACE isoform and thus agents and therapies affecting the genesis, development or progression of neuropathological conditions, including Alzheimer's disease and dementia.

L'invention concerne de manière générale les domaines de la génétique, de la biochimie, de la chimie médicinale et de la médecine. Elle concerne plus particulièrement l'identification d'une variante de gène humain en cause dans les affections neuropathologiques, et des méthodes pour le diagnostic, la prévention et le traitement de ces maladies et des troubles apparentés, ainsi que pour le criblage de médicaments thérapeutiquement actifs. La présente invention concerne des variantes catalytiquement actives de la béta-sécrétase (Memapsin2, BACE), et des acides nucléiques codant pour celles-ci. L'invention est utile pour l'identification des agents inhibant l'activité d'une isoforme particulière de BACE, et ainsi des agents et des traitements intéressant la genèse, le développement ou l'évolution des affections neuropathologiques, notamment la maladie d'Alzheimer et la démence.

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