Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Export

@article{citeulike:1477456, abstract = {Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3.}, address = {Department of Medicine (Neurology), University of Toronto, Ontario, Canada.}, author = {Sherrington, R. and Rogaev, E. I. and Liang, Y. and Rogaeva, E. A. and Levesque, G. and Ikeda, M. and Chi, H. and Lin, C. and Li, G. and Holman, K.}, citeulike-article-id = {1477456}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/375754a0}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/7596406}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=7596406}, day = {29}, doi = {10.1038/375754a0}, issn = {0028-0836}, journal = {Nature}, keywords = {alzheimers, brain, fad, genetics, mutation, pathogenesis, presenilin}, month = {June}, number = {6534}, pages = {754--760}, posted-at = {2007-08-21 16:55:08}, priority = {0}, title = {Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.}, url = {http://dx.doi.org/10.1038/375754a0}, volume = {375}, year = {1995} }

TY - JOUR ID - citeulike:1477456 L3 - citeulike-article-id:1477456 N2 - Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3. IS - 6534 JF - Nature SN - 0028-0836 AD - Department of Medicine (Neurology), University of Toronto, Ontario, Canada. EP - 760 TI - Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. VL - 375 SP - 754 KW - alzheimers KW - brain KW - fad KW - genetics KW - mutation KW - pathogenesis KW - presenilin AU - Sherrington, R AU - Rogaev, EI AU - Liang, Y AU - Rogaeva, EA AU - Levesque, G AU - Ikeda, M AU - Chi, H AU - Lin, C AU - Li, G AU - Holman, K PY - 1995/06/29/ UR - http://dx.doi.org/10.1038/375754a0 ER -