The presenilin genes: a new gene family involved in Alzheimer disease pathology
Tóm tắt
Từ khóa
Tài liệu tham khảo
Van Broeckhoven, 1995, Molecular genetics of Alzheimer disease: Identification of genes and gene mutations, Eur. Neurol., 35, 8, 10.1159/000117083
Hendriks, 1996, The βA4 amyloid precursor protein gene and Alzheimer's disease, Eur. J. Biochem., 237, 6, 10.1111/j.1432-1033.1996.0006n.x
Games, 1995, Alzheimer-type neuropathology in transgenic mice overexpressing V717F β amyloid- precursor protein, Nature, 373, 523, 10.1038/373523a0
Hardy, 1992, Alzheimer's disease: The amyloid cascade hypothesis, Science, 256, 184, 10.1126/science.1566067
Roses, 1994, Apolipoprotein E affects the rate of Alzheimer disease expression: β amyloid burden is a secondary consequence dependent on APOE genotype and duration of disease, J. Neuropathol. Exp. Neurol., 53, 429, 10.1097/00005072-199409000-00002
Schellenberg, 1992, Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14, Science, 258, 668, 10.1126/science.1411576
St George-Hyslop, 1992, Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14, Nature Genet., 2, 330, 10.1038/ng1292-330
Van Broeckhoven, 1992, Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3, Nature Genet., 2, 335, 10.1038/ng1292-335
Mullan, 1992, A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the a1-antichymotrypsin gene, Nature Genet., 2, 340, 10.1038/ng1292-340
Mitsunaga, 1994, Assignment of a familial Alzheimer's disease locus between D14S289 and D14S53, Lancet, 344, 1154, 10.1016/S0140-6736(94)90660-2
Cruts, 1995, Genetic and physical characterisation of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3, Hum. Mol. Genet., 4, 1355, 10.1093/hmg/4.8.1355
Clark, 1995, A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3, Hum. Mol. Genet., 4, 1347, 10.1093/hmg/4.8.1347
Bonnycastle, 1993, The c-fos gene and early-onset familial Alzheimer's disease, Neurosci. Lett., 160, 33, 10.1016/0304-3940(93)90910-D
Rogaev, 1993, Analysis of the c-fos gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease, Neurology, 43, 2275, 10.1212/WNL.43.11.2275
Cruts, 1994, Genetic analysis of the cellular oncogene fos in patients with chromosome 14 encoded Alzheimer's disease, Neurosci. Lett., 174, 97, 10.1016/0304-3940(94)90128-7
Cruts, 1995, Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3, Hum. Mol. Genet., 4, 2363, 10.1093/hmg/4.12.2363
Cruts, 1995, Mutation analysis of the 14q24.3 dihydrolipoyl succinyltransferase (DLST) gene in patients with early-onset Alzheimer disease, Neurosci. Lett., 199, 73, 10.1016/0304-3940(95)11982-3
Sherrington, 1995, Cloning of a gene bearing mis-sense mutations in early-onset familial Alzheimer's disease, Nature, 375, 754, 10.1038/375754a0
Alzheimer's Disease Collaborative Group, 1995, The structure of the Presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families, Nature Genet., 11, 219, 10.1038/ng1095-219
Bird, 1988, Familial Alzheimer's disease in American descendants of the Volga Germans: Probable genetic founder effect, Ann. Neurol., 23, 25, 10.1002/ana.410230106
Levy-Lahad, 1995, A familial Alzheimer's disease locus on chromosome 1, Science, 269, 970, 10.1126/science.7638621
Levy-Lahad, 1995, Candidate gene for the chromosome 1 familial Alzheimer's disease locus, Science, 269, 973, 10.1126/science.7638622
Rogaev, 1995, Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene, Nature, 376, 775, 10.1038/376775a0
Levy-Lahad, 1996, Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer's disease gene, Genomics, 34, 198, 10.1006/geno.1996.0266
Prihar, 1996, Structure and alternative splicing of the presenilin-2 gene, Neuroreport, 10.1097/00001756-199607080-00031
Sherrington, 1996, Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant, Hum. Mol. Genet., 5, 985, 10.1093/hmg/5.7.985
Sahara, 1996, Identification and characterization of presenilin I-467, I-463 and I-374, FEBS Lett, 381, 7, 10.1016/0014-5793(96)00054-3
Anwar, 1996, Molecular analysis of the presenilin 1 (S182) gene in ‘sporadic’ cases of Alzheimer's disease: Identification and characterisation of unusual splice variants, J. Neurochem., 66, 1774, 10.1046/j.1471-4159.1996.66041774.x
Campion, 1995, Mutations of the presenilin-1 gene in families with early-onset Alzheimer's disease, Hum. Mol. Genet., 4, 2372, 10.1093/hmg/4.12.2373
Van Broeckhoven, 1995, Presenilins and Alzheimer disease, Nature Genet., 11, 230, 10.1038/ng1195-230
Hutton, 1996, Complete analysis of the presenilin 1 gene in families with early onset Alzheimer's disease, Neuroreport,, 7, 801, 10.1097/00001756-199602290-00029
Sandbrink, 1996, Missense mutations of the S182/PS1 gene in German early-onset Alzheimer's disease patients, Ann. Neurol., 10.1002/ana.410400225
Wasco, 1996, Etiological clues from gene defects causing early-onset familial Alzheimer's disease, Molecular mechanisms of dementia, 10.1385/0-89603-371-6:1
Boteva, 1996, Mutation analysis of presenilin 1 gene in Alzheimer's disease, Lancet, 347, 130, 10.1016/S0140-6736(96)90261-5
Kamino, 1996, Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families, Neurosci. Lett., 208, 195, 10.1016/0304-3940(96)12587-8
Perez-Tur, 1996, A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene, Neuroreport, 7, 297, 10.1097/00001756-199512000-00071
Rossor, 1996, Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation, Lancet, 347, 1560, 10.1016/S0140-6736(96)90715-1
Van Broeckhoven, 1994, APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease, Neurosci. Lett., 169, 179, 10.1016/0304-3940(94)90385-9
Brice, 1996, Apolipoprotein E genotype does not effect age at onset in patients with chromosome 14 encoded Alzheimer's disease, J. Med. Genet., 33, 174, 10.1136/jmg.33.2.174
Wragg, 1996, Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease, Lancet, 347, 509, 10.1016/S0140-6736(96)91140-X
Kehoe, 1996, Presenilin-1 polymorphism and Alzheimer's disease, Lancet, 347, 1185, 10.1016/S0140-6736(96)90643-1
Higuchi, 1996, Presenilin-1 polymorphism and Alzheimer's disease, Lancet, 347, 1186
Scott, 1996, Presenilin-1 polymorphism and Alzheimer's disease, Lancet, 347, 1186, 10.1016/S0140-6736(96)90716-3
Perez-Tur, 1996, Presenilin-1 polymorphism and Alzheimer's disease, Lancet, 347, 1560, 10.1016/S0140-6736(96)90716-3
Schellenberg, 1993, Chromosome 14 and late-onset familial Alzheimer disease (FAD), Am. J. Hum. Genet., 53, 619
Levy-Lahad, 1995, Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease, Ann. Neurol., 38, 678, 10.1002/ana.410380420
Moussaoui, 1996, Immunohistochemical analysis of presenilin-1 expression in the mouse brain FEBS Lett, 383, 219
Kovacs, 1996, Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracelllular membranes in mammalian cells, Nature Med., 2, 224, 10.1038/nm0296-224
Mercken, 1996, Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: evidence that Alzheimer mutations affect proteolytic processing, FEBS Letts, 10.1016/0014-5793(96)00608-4
Suzuki, 1996, Regional and cellular presenilin-1 gene expression in human and rat tissues, Biochem. Biophys. Res. Commun., 219, 708, 10.1006/bbrc.1996.0299
Wisniewski, 1995, S182 protein in Alzheimer's disease neuritic plaques, Lancet, 346, 1366, 10.1016/S0140-6736(95)92379-9
Vito, 1996, Interfering with apoptosis: Ca-binding proteine ALG-2 and Alzheimer's disease gene ALG-3, Science, 271, 521, 10.1126/science.271.5248.521
Querfurth, 1995, bAPP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family, Mol. Brain Res., 28, 319, 10.1016/0169-328X(94)00224-3
Martins, 1995, High levels of amyloid-β protein from S182 (Glu246) familial Alzheimer's cells, Neuroreport, 7, 217, 10.1097/00001756-199512000-00052