@article{178dd5f5f9a24b8ea63d581320ce1189,
title = "Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: No association between an exonic polymorphism and Alzheimer's disease",
abstract = "Calsenilin is a recently-identified member of the neuronal calcium sensor family. Like other members of this family, it is found in the brain and binds calcium. Calsenilin was discovered by virtue of its interaction with both presenilin-1 and -2, proteins that are involved in the etiology of Alzheimer's disease. Because calsenilin may play a role in Alzheimer's disease and other disease with alterations in calcium homeostasis, we characterized the human gene. The gene, which we localized to chromosome 2, extends over a region of at least 74 kb and includes nine exons. Interestingly, the ninth exon of calsenilin contains a highly polymorphic CA repeat, adjacent to the stop codon. In a study of Alzheimer patients and their unaffected siblings, there was no evidence of association of AD with any calsenilin allele. This CA repeat will be useful for linkage and linkage disequilibrium studies to determine whether calsenilin variants contribute to risk in other diseases. Copyright (C) 2000 Elsevier Science Ireland Ltd.",
keywords = "Alzheimer's disease, Calsenilin gene, Presenilin-1 and -2",
author = "Buxbaum, {Joseph D.} and Christina Lilliehook and Chan, {Joseph Y.} and Go, {Rodney C.P.} and Bassett, {Susan S.} and Tanzi, {Rudolph E.} and Wilma Wasco and Deborah Blacker",
note = "Funding Information: This work was supported by NIH grants AG15801 (J.D.B.), AG05138 (J.D.B.), MH60009 (R.T.) and NS35975 (W.W.) and by the Alzheimer Association (J.D.B. and W.W.). For linkage and association studies, data and biomaterials were collected in three projects that participated in the National Institute of Mental Health (NIMH) Alzheimer Disease Genetics Initiative. From 1991–1998, the Principal Investigators and Co-Investigators were: Massachusetts General Hospital, Boston, MA, U01 MH46281, Marilyn S. Albert, Ph.D. and Deborah Blacker, M.D., Sc.D.; Johns Hopkins University, Baltimore, MD, U01 MH46290, Susan S. Bassett, Ph.D., Gary A. Chase, Ph.D. and Marshal F. Folstein, M.D.; University of Alabama, Birmingham, AL, U01 MH46373, Rodney C.P. Go, Ph.D. and Lindy E. Harrell, M.D.",
year = "2000",
month = nov,
day = "24",
doi = "10.1016/S0304-3940(00)01553-6",
language = "English",
volume = "294",
pages = "135--138",
journal = "Neuroscience Letters",
issn = "0304-3940",
publisher = "Elsevier Ireland Ltd",
number = "3",
}