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Neuroscience Letters
Article . 1997 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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Mutation analysis of chromosome 19 calmodulin (CALM3) gene in Alzheimer's disease patients

Authors: Ibarreta, Dolores; Tao, Jianming; Parrilla, Roberto L.; Sánchez Ayuso, Matilde;

Mutation analysis of chromosome 19 calmodulin (CALM3) gene in Alzheimer's disease patients

Abstract

The calcium buffering capacity of lymphoblasts from patients suffering of late onset Alzheimer's disease (AD) has been reported to be diminished. Calmodulin is a calcium binding protein codified by three genes, one of them (CALM3) maps to chromosome 19, nearby a gene, apoE, associated with late onset AD. In this study we screened for structural changes in the CALM3 gene from AD patients by PCR-SSCP analysis. We observed several point mutations in the intronic flanking regions of exons 3 and 4 of CALM 3 gene. However, we failed to detect any structural changes in the regions encoding the calcium binding domains of this gene. Similar results were obtained by RT-PCR analysis of CALM3 transcripts from AD patients carrying apoE epsilon4 allele. It is concluded that structural alterations in the CALM3 gene are not associated with the altered Ca2+ homeostasis shown by lymphoblasts from these patients.

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Keywords

Herpesvirus 4, Human, Epstein-Barr virus transformed lymphoblast, DNA Mutational Analysis, Exons, Alzheimer's disease, Middle Aged, Polymerase Chain Reaction, Cell Line, Transformation, Genetic, Calmodulin, Alzheimer Disease, Calcium homeostasis, Homeostasis, Humans, Calcium, Calmodulin gene, Lymphocytes, Age of Onset, Chromosomes, Human, Pair 19, Aged

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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