Citations for
Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families.
Marchani EE, Bird TD, Steinbart EJ, Rosenthal E, Yu CE, Schellenberg GD, Wijsman EM.
Am J Med Genet B Neuropsychiatr Genet 153B(5):1031-41.PMID: 20333730 2010
2AD1, AD10, AD15, AD16, AD17, AD18, AD19, AD2, AD22, AD23, AD24, AD25, AD3, AD4, AD5, AD6, AD7, AD8, AD9
Genome-wide association studies in Alzheimer's disease.
Bertram L, Tanzi RE.
Hum Mol Genet 18(R2):R137-45. 2009
3AD1, AD2, AD24, AD3, AD4, APOE, APP, PSEN1, PSEN2
Genome-wide association studies in Alzheimer disease.
Waring SC, Rosenberg RN.
Arch Neurol 65(3):329-34. Review. 2008
A novel PSEN2 mutation associated with a peculiar phenotype.
Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.
Neurology 70(17):1549-54.PMID: 18427071 2008
5AD24, AD3, AD4, PSEN1, PSEN2
Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism.
Landman N, Jeong SY, Shin SY, Voronov SV, Serban G, Kang MS, Park MK, Di Paolo G, Chung S, Kim TW.
Proc Natl Acad Sci U S A 103(51):19524-9. Epub 2006 Dec 8. 2006
Chasing genes in Alzheimer's and Parkinson's disease.
Bertoli-Avella AM, Oostra BA, Heutink P.
Hum Genet 114(5):413-38. Epub 2004 Mar 04. 2004
7AD1, AD15, AD16, AD19, AD2, AD24, AD25, AD3, AD4, AD5, AD7, AD8, AD9
Defects in expression of genes related to synaptic vesicle trafficking in frontal cortex of Alzheimer's disease.
Yao PJ, Zhu M, Pyun EI, Brooks AI, Therianos S, Meyers VE, Coleman PD.
Neurobiol Dis 12(2):97-109. 2003
Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein
Tanahashi H, Tabira T.
Hum Mol Genet 9(15):2281-9. 2000
A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
Yasuda M, et al.
Arch Neurol 56(1):65-9. 1999
10PSEN2, AD4
A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue.
Sato N, et al.
J Neurochem 72(6):2498-505. 1999
11AD3, AD4, PSEN1, PSEN2
Presenilin mutations in Alzheimer's disease.
Cruts M, Van Broeckhoven C.
Hum Mutat 11(3):183-90. 1998
12AD1, AD2, AD3, AD4, AD5
Alzheimer diseases : a model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases.
Roses AD.
Am J Med Genet 81(1):49-57. 1998
13AD4, PSEN2
Molecular dissection of domains in mutant presenilin 2 that mediate overproduction of amyloidogenic forms of amyloid beta peptides. Inability of truncated forms of PS2 with familial Alzheimer's disease mutation to increase secretion of Abeta42.
Tomita T, Tokuhiro S, Hashimoto T, Aiba K, Saido TC, Maruyama K, Iwatsubo T.
J Biol Chem 273 : 21153-21160. 1998
14AD4, PSEN2
Monogenic determinants of familial Alzheimer's disease : presenilin-2 mutations.
Renbaum P, et al.
Cell Mol Life Sci 54 : 910-919. 1998
15AD4, PSEN2
Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion : control by the proteasome.
Marambaud P, et al.
Biochem Biophys Res Commun 252 : 134-138. 1998
16AD3, AD4, PSEN1, PSEN2
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C.
Hum Mol Genet 7(1):43-51 1998
17AD4, PSEN2
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
Tomita T, et al.
Proc Natl Acad Sci U S A 94 : 2025-2030. 1997
18AD4, PSEN2
Assignment of Alzheimer's presenilin-2 (PS-2) gene to 1q42.1 by fluorescence in situ hybridization.
Takano T, et al.
Neurosci Lett 221 : 205-207. 1997
Neurodegenerative diseases with cytoskeletal pathology: a biochemical classification.
Dickson DW.
Ann Neurol 42(4):541-4. 1997
20AD3, AD4, PSEN1, PSEN2
Alzheimer-associated presenilins 1 and 2 : neuronal expression in brain and localization to intracellular membranes in mammalian cells.
Kovacs DM, et al.
Nat Med 2 : 224-229. 1996
21PSEN2, AD4
Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.
Levy-Lahad E, et al.
Genomics 34 : 198-204. 1996
22PSEN2, AD4
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Sherrington R, et al.
Hum Mol Genet 5 : 985-988. 1996
23AD3, AD4, PSEN1, PSEN2
Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients.
Sandbrink R, et al.
Ann Neurol 40 : 265-266. 1996
24AD4, PSEN2
Participation of presenilin 2 in apoptosis : enhanced basal activity conferred by an Alzheimer mutation.
Wolozin B, et al.
Science 274 : 1710-1713. 1996
Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.
Li J, et al.
Proc Natl Acad Sci U S A 92 : 12180-12184. 1995
26AD4, PSEN2
A familial Alzheimer's disease locus on chromosome 1.
Levy-Lahad E, et al.
Science 269 : 970-973. 1995
27AD4, PSEN2
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
Rogaev EI, et al.
Nature 376 : 775-778. 1995
28AD4, PSEN2
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
Levy-Lahad E, et al.
Science 269 : 973-977. 1995