Promoter mutations that increase amyloid precursor protein...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C536S024300, C536S024310

Reexamination Certificate

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07960117

ABSTRACT:
The present invention relates to mutations in the amyloid precursor protein (APP) promoter region, whereby the mutations cause a significant increase in APP expression. The increase in APP expression is related to Alzheimer's disease, and the mutations can be used in Alzheimer's disease diagnosis, or in the construction of transgenic animal models for studying Alzheimer's disease.

REFERENCES:
patent: 2380196 (2003-04-01), None
patent: WO9640895 (1996-12-01), None
patent: WO 2007/104739 (2007-09-01), None
Lahiri et al., 2000, Molecular Brain Research, vol. 77, p. 185-198.
Querfurth et al., 1999, Gene, vol. 232, p. 125-141.
Rogaev et al., 1993, Neurology, vol. 43, p. 2275-2279.
Athan et al., 2002, Arch Neurol, vol. 59, p. 1793-1799.
Lahiri et al., Abstract, Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease. Neurobiology of Aging, Nov. 2005, pp. 1329-1341, vol. 26, No. 10, Tarrytown, NY, US.
Lahiri et al., Abstract, Promoter activity of the beta-amyloid precursor protein gene is negatively modulated by an upstream regulatory element, Molecular Brain Research, Jul. 23, 1999. pp. 32-41, vol. 71, No. 1.
Andra et al., Abstract, Expression of APP in transgenic mice: a comparison of neuron-specific promoters, Neurobiology of Aging, pp. 183-190, vol. 17, No. 2, Tarrytown, NY, US.
Howland et al.. Abstract, Mutant and native human beta-amyloid precursor proteins in transgenic mouse brain, Neurobiology of Aging, pp. 685-699, vol. 16, No. 4, Tarrytown, NY, US.
Lamb, et al., Abstract, Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice, Nature Genetics, Sep. 1, 1993, pp. 22-29, vol. 5, NY, US.
Theuns, et al., Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease. American Journal of Human Genetics, Jun. 2006, pp. 936-946, vol. 78, No. 6.
Lahiri et al., Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease, Neurobiology of Aging, Nov. 2005, pp. 1329-1341, vol. 26, No. 10, Tarrytown, NY, US.
Lahiri et al., Analysis of the 5′-flanking region of the beta-amyloid precursor protein gene that contributes to increased promoter activity in differentiated neuronal cells, Molecular Brain Research, May 5, 2000, pp. 185-198, vol. 77, No. 2, Elsevier Science BV, Amsterdam, NL.
Lahiri et al., Promoter activity of the beta-amyloid precursor protein gene is negatively modulated by an upstream regulatory element, Molecular Brain Research, Jul. 23, 1999, pp. 32-41, vol. 71, No. 1.
Andra et al., Expression of APP in transgenic mice: a comparison of neuron-specific promoters, Neurobiology of Aging, pp. 183-190, vol. 17, No. 2, Tarrytown, NY, US.
Howland et al., Mutant and native human beta-amyloid precursor proteins in transgenic mouse brain, Neurobiology of Aging, pp. 685-699, vol. 16, No. 4, Tarrytown, NY, US.
Lamb, et al., Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice, Nature Genetics, Sep. 1, 1993, pp. 22-29, vol. 5, NY, US.
PCT International Search Report, PCT/EP2007/052296, dated May 25, 2007.

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