Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Amyloid beta (A4) precursor protein

The APP gene encodes a membrane protein whose cleavage products serve various functions. If not properly cleaved and removed the products may accumulate locally to cause Alzheimer disease and cerebroarterial amyloidosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Alzheimer disease
APOE
APP
CLU
CYP2D6
HFE
Amyloidosis, cerebroarterial, Dutch type
APP

References:

1.

Glenner GG et al. (1984) Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein.

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2.

Ni Y et al. (2006) Activation of beta2-adrenergic receptor stimulates gamma-secretase activity and accelerates amyloid plaque formation.

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3.

Levy E et al. (1990) Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

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4.

Grabowski TJ et al. (2001) Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy.

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5.

Greenberg SM et al. (2003) Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation.

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6.

Obici L et al. (2005) A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.

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7.

Rovelet-Lecrux A et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

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8.

Revesz T et al. (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.

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9.

Bugiani O et al. (2010) Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

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10.

Heneka MT et al. (2013) NLRP3 is activated in Alzheimer's disease and contributes to pathology in APP/PS1 mice.

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11.

DeMattos RB et al. (2004) ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo.

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12.

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13.

Ancolio K et al. (1999) Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.

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14.

Gervais FG et al. (1999) Involvement of caspases in proteolytic cleavage of Alzheimer's amyloid-beta precursor protein and amyloidogenic A beta peptide formation.

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15.

Schenk D et al. (1999) Immunization with amyloid-beta attenuates Alzheimer-disease-like pathology in the PDAPP mouse.

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16.

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17.

Vassar R et al. (1999) Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE.

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18.

Yan R et al. (1999) Membrane-anchored aspartyl protease with Alzheimer's disease beta-secretase activity.

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19.

Bales KR et al. (1999) Apolipoprotein E is essential for amyloid deposition in the APP(V717F) transgenic mouse model of Alzheimer's disease.

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20.

Sennvik K et al. (2000) Levels of alpha- and beta-secretase cleaved amyloid precursor protein in the cerebrospinal fluid of Alzheimer's disease patients.

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21.

Lorenzo A et al. (2000) Amyloid beta interacts with the amyloid precursor protein: a potential toxic mechanism in Alzheimer's disease.

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22.

Miravalle L et al. (2000) Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.

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23.

Murrell JR et al. (2000) Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.

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24.

Kumar-Singh S et al. (2000) Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.

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25.

Kang DE et al. (2000) Modulation of amyloid beta-protein clearance and Alzheimer's disease susceptibility by the LDL receptor-related protein pathway.

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26.

Janus C et al. () A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease.

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27.

Morgan D et al. () A beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease.

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28.

Kamal A et al. (2000) Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I.

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29.

Takahashi M et al. (2000) Amyloid precursor proteins inhibit heme oxygenase activity and augment neurotoxicity in Alzheimer's disease.

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30.

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31.

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32.

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33.

Jankowsky JL et al. (2001) Co-expression of multiple transgenes in mouse CNS: a comparison of strategies.

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34.

Iwata N et al. (2001) Metabolic regulation of brain Abeta by neprilysin.

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35.

Roberds SL et al. (2001) BACE knockout mice are healthy despite lacking the primary beta-secretase activity in brain: implications for Alzheimer's disease therapeutics.

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36.

Cherny RA et al. (2001) Treatment with a copper-zinc chelator markedly and rapidly inhibits beta-amyloid accumulation in Alzheimer's disease transgenic mice.

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37.

Cao X et al. (2001) A transcriptionally [correction of transcriptively] active complex of APP with Fe65 and histone acetyltransferase Tip60.

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38.

De Jonghe C et al. (2001) Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

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39.

Lewis J et al. (2001) Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP.

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40.

Götz J et al. (2001) Formation of neurofibrillary tangles in P301l tau transgenic mice induced by Abeta 42 fibrils.

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41.

Nilsberth C et al. (2001) The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.

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42.

Puglielli L et al. (2001) Acyl-coenzyme A: cholesterol acyltransferase modulates the generation of the amyloid beta-peptide.

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43.

Weggen S et al. (2001) A subset of NSAIDs lower amyloidogenic Abeta42 independently of cyclooxygenase activity.

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44.

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45.

Kamal A et al. (2001) Kinesin-mediated axonal transport of a membrane compartment containing beta-secretase and presenilin-1 requires APP.

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46.

Greenfield JP et al. (2002) Estrogen lowers Alzheimer beta-amyloid generation by stimulating trans-Golgi network vesicle biogenesis.

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47.

DeMattos RB et al. (2002) Brain to plasma amyloid-beta efflux: a measure of brain amyloid burden in a mouse model of Alzheimer's disease.

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48.

Dineley KT et al. (2002) Accelerated plaque accumulation, associative learning deficits, and up-regulation of alpha 7 nicotinic receptor protein in transgenic mice co-expressing mutant human presenilin 1 and amyloid precursor proteins.

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49.

Bucciantini M et al. (2002) Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases.

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50.

Walsh DM et al. (2002) Naturally secreted oligomers of amyloid beta protein potently inhibit hippocampal long-term potentiation in vivo.

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51.

Dodart JC et al. (2002) Immunization reverses memory deficits without reducing brain Abeta burden in Alzheimer's disease model.

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52.

Sugarman MC et al. (2002) Inclusion body myositis-like phenotype induced by transgenic overexpression of beta APP in skeletal muscle.

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53.

Taru H et al. (2002) Differential roles of JIP scaffold proteins in the modulation of amyloid precursor protein metabolism.

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54.

Pasalar P et al. (2002) An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).

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55.

Francis R et al. (2002) aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation.

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56.

Lashuel HA et al. (2002) Neurodegenerative disease: amyloid pores from pathogenic mutations.

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57.

Simons A et al. (2002) Evidence for a copper-binding superfamily of the amyloid precursor protein.

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58.

Wilson CA et al. (2002) Presenilins are not required for A beta 42 production in the early secretory pathway.

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59.

Baek SH et al. (2002) Exchange of N-CoR corepressor and Tip60 coactivator complexes links gene expression by NF-kappaB and beta-amyloid precursor protein.

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60.

Pfeifer M et al. (2002) Cerebral hemorrhage after passive anti-Abeta immunotherapy.

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61.

Farris W et al. (2003) Insulin-degrading enzyme regulates the levels of insulin, amyloid beta-protein, and the beta-amyloid precursor protein intracellular domain in vivo.

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62.

Takasugi N et al. (2003) The role of presenilin cofactors in the gamma-secretase complex.

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63.

Kamenetz F et al. (2003) APP processing and synaptic function.

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64.

Morelli L et al. (2003) Differential degradation of amyloid beta genetic variants associated with hereditary dementia or stroke by insulin-degrading enzyme.

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65.

Kayed R et al. (2003) Common structure of soluble amyloid oligomers implies common mechanism of pathogenesis.

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66.

Phiel CJ et al. (2003) GSK-3alpha regulates production of Alzheimer's disease amyloid-beta peptides.

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67.

Hol EM et al. (2003) Frameshifted beta-amyloid precursor protein (APP+1) is a secretory protein, and the level of APP+1 in cerebrospinal fluid is linked to Alzheimer pathology.

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68.

Mullan M et al. (1992) A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.

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69.

Hendriks L et al. (1992) Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

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70.

Mant R et al. (1992) Schizophrenia scepticism.

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71.

Carter DA et al. (1992) More missense in amyloid gene.

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72.

Jones CT et al. (1992) Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia.

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73.

Kamino K et al. (1992) Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.

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74.

Lehman EJ et al. (2003) Genetic background regulates beta-amyloid precursor protein processing and beta-amyloid deposition in the mouse.

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75.

Netzer WJ et al. (2003) Gleevec inhibits beta-amyloid production but not Notch cleavage.

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76.

Zhou Y et al. (2003) Nonsteroidal anti-inflammatory drugs can lower amyloidogenic Abeta42 by inhibiting Rho.

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77.

Citron M et al. (1992) Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.

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78.

Leissring MA et al. (2003) Enhanced proteolysis of beta-amyloid in APP transgenic mice prevents plaque formation, secondary pathology, and premature death.

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79.

Ohno M et al. (2004) BACE1 deficiency rescues memory deficits and cholinergic dysfunction in a mouse model of Alzheimer's disease.

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80.

Muresan Z et al. (2004) A phosphorylated, carboxy-terminal fragment of beta-amyloid precursor protein localizes to the splicing factor compartment.

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81.

Iijima K et al. (2004) Dissecting the pathological effects of human Abeta40 and Abeta42 in Drosophila: a potential model for Alzheimer's disease.

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82.

Lustbader JW et al. (2004) ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.

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83.

Reddy PH et al. (2004) Gene expression profiles of transcripts in amyloid precursor protein transgenic mice: up-regulation of mitochondrial metabolism and apoptotic genes is an early cellular change in Alzheimer's disease.

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84.

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85.

Karlinsky H et al. (1992) Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.

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86.

Krezowski J et al. (2004) Identification of loci determining susceptibility to the lethal effects of amyloid precursor protein transgene overexpression.

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87.

Rossi G et al. (2004) A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.

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88.

Lleó A et al. (2004) Nonsteroidal anti-inflammatory drugs lower Abeta42 and change presenilin 1 conformation.

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89.

Hutter-Paier B et al. (2004) The ACAT inhibitor CP-113,818 markedly reduces amyloid pathology in a mouse model of Alzheimer's disease.

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90.

Cheng IH et al. (2004) Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation.

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91.

Lee EB et al. (2005) BACE overexpression alters the subcellular processing of APP and inhibits Abeta deposition in vivo.

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92.

Petkova AT et al. (2005) Self-propagating, molecular-level polymorphism in Alzheimer's beta-amyloid fibrils.

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93.

Edwards-Lee T et al. (2005) An African American family with early-onset Alzheimer disease and an APP (T714I) mutation.

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94.

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95.

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96.

Pardossi-Piquard R et al. (2005) Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP.

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97.

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98.

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99.

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100.

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101.

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102.

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103.

Guo JP et al. (2006) Abeta and tau form soluble complexes that may promote self aggregation of both into the insoluble forms observed in Alzheimer's disease.

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104.

Cai D et al. (2006) Phospholipase D1 corrects impaired betaAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons.

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105.

Tagawa K et al. (1991) Alzheimer's disease amyloid beta-clipping enzyme (APP secretase): identification, purification, and characterization of the enzyme.

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106.

Godbolt AK et al. (2006) A second family with familial AD and the V717L APP mutation has a later age at onset.

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107.

Lesné S et al. (2006) A specific amyloid-beta protein assembly in the brain impairs memory.

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108.

Pastorino L et al. (2006) The prolyl isomerase Pin1 regulates amyloid precursor protein processing and amyloid-beta production.

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109.

Galvan V et al. (2006) Reversal of Alzheimer's-like pathology and behavior in human APP transgenic mice by mutation of Asp664.

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110.

Theuns J et al. (2006) Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease.

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111.

Choi DS et al. (2006) PKCepsilon increases endothelin converting enzyme activity and reduces amyloid plaque pathology in transgenic mice.

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112.

Goate A et al. (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.

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113.

van Duijn CM et al. (1991) Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.

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114.

Naruse S et al. (1991) Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.

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115.

Schellenberg GD et al. (1991) APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.

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116.

Bakker E et al. (1991) DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

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117.

Colton CA et al. (2006) NO synthase 2 (NOS2) deletion promotes multiple pathologies in a mouse model of Alzheimer's disease.

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118.

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119.

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120.

Adler MJ et al. (1991) Increased gene expression of Alzheimer disease beta-amyloid precursor protein in senescent cultured fibroblasts.

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121.

Tesseur I et al. (2006) Deficiency in neuronal TGF-beta signaling promotes neurodegeneration and Alzheimer's pathology.

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122.

Chen AC et al. (2007) Response to: Pardossi-Piquard et al., "Presenilin-Dependent Transcriptional Control of the Abeta-Degrading Enzyme Neprilysin by Intracellular Domains of betaAPP and APLP." Neuron 46, 541-554.

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123.

Pardossi-Piquard R et al. (2007) Response to correspondence: Pardossi-Piquard et al., "Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betAAPP and APLP." Neuron 46, 541-554.

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124.

Guyant-Maréchal L et al. (2007) Variations in the APP gene promoter region and risk of Alzheimer disease.

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125.

Munter LM et al. (2007) GxxxG motifs within the amyloid precursor protein transmembrane sequence are critical for the etiology of Abeta42.

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126.

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127.

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128.

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129.

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130.

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131.

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132.

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133.

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134.

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135.

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136.

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137.

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138.

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139.

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140.

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141.

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142.

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143.

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144.

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145.

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146.

Chartier-Harlin MC et al. (1991) Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.

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147.

Burns MP et al. (2009) Parkin promotes intracellular Abeta1-42 clearance.

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148.

Tong Y et al. (2010) COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.

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149.

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150.

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151.

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152.

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153.

Iijima K et al. (2010) Tau Ser262 phosphorylation is critical for Abeta42-induced tau toxicity in a transgenic Drosophila model of Alzheimer's disease.

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154.

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155.

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156.

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157.

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158.

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159.

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160.

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161.

Stieren ES et al. (2011) Ubiquilin-1 is a molecular chaperone for the amyloid precursor protein.

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162.

Barrett PJ et al. (2012) The amyloid precursor protein has a flexible transmembrane domain and binds cholesterol.

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163.

Nussbaum JM et al. (2012) Prion-like behaviour and tau-dependent cytotoxicity of pyroglutamylated amyloid-β.

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164.

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165.

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166.

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167.

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168.

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169.

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170.

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171.

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172.

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173.

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174.

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175.

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176.

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177.

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178.

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179.

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180.

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181.

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182.

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183.

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184.

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185.

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186.

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187.

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188.

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189.

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190.

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191.

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192.

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193.

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194.

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195.

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196.

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197.

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Wikipedia article

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