Page 64 - AN-2-4

Advanced Neurology Genomic insights into Alzheimer

cases. PLoS Med, 14: e1002270. 52. Lindquist SG, Nielsen JE, Stokholm J, et al., 2008, Atypical
early-onset Alzheimer’s disease caused by the Iranian APP
https://doi.org/10.1371/journal.pmed.1002270
mutation. J Neurol Sci, 268: 124–130.
42. Yoshikai S, Sasaki H, Doh-Ura K, et al., 1990, Genomic
organization of the human amyloid beta-protein precursor https://doi.org/10.1016/j.jns.2007.11.021
gene. Gene, 87: 257–263. 53. Edwards-Lee T, Ringman JM, Chung J, et al., 2005, An
African American family with early-onset Alzheimer disease
https://doi.org/10.1016/0378-1119(90)90310-n
and an APP (T714I) mutation. Neurology, 64: 377–379.
43. Levy E, Carman MD, Fernandez-Madrid IJ, et al., 1990,
Mutation of the Alzheimer’s disease amyloid gene in https://doi.org/10.1212/01.WNL.0000149761.70566.3E
hereditary cerebral hemorrhage, Dutch type. Science, 54. Valerija D, Stefanova E, Jankovic M, et al., 2012, Genetic
248: 1124–1126. testing in familial and young-onset Alzheimer’s disease:
Mutation spectrum in a serbian cohort. Neurobiol Aging,
https://doi.org/10.1126/science.2111584
33: 1481.e7–e12.
44. Wisniewski T, Ghiso J, Frangione B, 1991, Peptides
homologous to the amyloid protein of Alzheimer’s disease https://doi.org/10.1016/j.neurobiolaging.2011.12.007
containing a glutamine for glutamic acid substitution have 55. Guerreiro RJ, Baquero M, Blesa R, et al., 2010, Genetic
accelerated amyloid fibril formation. Biochem Biophys Res screening of Alzheimer’s disease genes in Iberian and
Commun, 179: 1247–1254. African samples yields novel mutations in presenilins and
APP. Neurobiol Aging, 31: 725–731.
https://doi.org/10.1016/0006-291x(91)91706-i
https://doi.org/10.1016/j.neurobiolaging.2008.06.012
45. Haass C, Hung AY, Selkoe DJ, et al., 1994, Mutations
associated with a locus for familial Alzheimer’s disease result 56. Wang Q, Jia J, Qin W, et al., 2015, A novel AβPP M722K
in alternative processing of amyloid beta-protein precursor. mutation affects amyloid-β secretion and Tau phosphorylation
J Biol Chem, 269: 17741–17748. and may cause early-onset familial Alzheimer’s disease in
Chinese individuals. J Alzheimers Dis, 47: 157–165.
46. Rocchi A, Pellegrini S, Siciliano G, et al., 2003, Causative
and susceptibility genes for Alzheimer’s disease: A review. https://doi.org/10.3233/JAD-143231
Brain Res Bull, 61: 1–24.
57. Larner AJ, 2013, Presenilin-1 mutations in Alzheimer’s
https://doi.org/10.1016/s0361-9230(03)00067-4 disease: An update on genotype-phenotype relationships.
J Alzheimers Dis, 47: 653–659.
47. Kumar-Singh S, Cras P, Wang R, et al., 2002, Dense-core
senile plaques in the Flemish variant of Alzheimer’s disease https://doi.org/10.3233/JAD-130746
are vasocentric. Am J Pathol, 161: 507–520.
58. Canevelli M, Piscopo P, Talarico G, et al., 2014, Familial
https://doi.org/10.1016/S0002-9440(10)64207-1 Alzheimer’s disease sustained by presenilin 2 mutations:
Systematic review of literature and genotype-phenotype
48. Castellani RJ, Honda K, Zhu X, et al., 2004, Contribution
of redox-active iron and copper to oxidative damage in correlation. Neurosci Behav Rev, 42: 170–179.
Alzheimer disease. Ageing Res Rev, 3: 319–326. https://doi.org/10.1016/j.neubiorev.2014.02.010
https://doi.org/10.1016/j.arr.2004.01.002 59. Mehrgou A, Akouchekian M, 2016, The importance of
BRCA1 and BRCA2 genes mutations in breast cancer
49. Ryan NS, Biessels GJ, Kim L, et al., 2015, Genetic
determinants of white matter hyperintensities and amyloid development. Med J Islam Repub Iran, 30: 369.
angiopathy in familial Alzheimer’s disease. Neurobiol Aging, 60. Gayther S, Warren W, Mazoyer S, et al., 1995, Germline
36: 3140–3151. mutations of the BRCA1 gene in breast and ovarian cancer
families provide evidence for a genotype-phenotype
https://doi.org/10.1016/j.neurobiolaging.2015.08.026
correlation. Nat Genet, 11: 428–433.
50. Ryan NS, Nicholas JM, Weston PS, et al., 2016, Clinical
phenotype and genetic associations in autosomal dominant https://doi.org/10.1038/ng1295-428
familial Alzheimer’s disease: A case series. Lancet Neurol, 61. Linger RJ, Kruk PA, 2010, BRCA1 16 years later: Risk-
15: 1326–1335. associated BRCA1 mutations and their functional
implications. FEBS J, 277: 3086–3096.
https://doi.org/10.1016/S1474-4422(16)30193-4
https://doi.org/10.1111/j.1742-4658.2010.07735.x
51. Żekanowski C, Styczyńska M, Pepłońska B, et al., 2003,
Mutations in presenilin 1, presenilin 2 and amyloid 62. Hunter JC, Manandhar A, Carrasco MA, et al., 2015,
precursor protein genes in patients with early-onset Biochemical and structural analysis of common cancer-
Alzheimer’s disease in Poland. Exp Neurol, 184: 991–996. associated KRAS mutations. Mol Cancer Res, 13: 1325–1335.
https://doi.org/10.1016/S0014-4886(03)00384-4 https://doi.org/10.1158/1541-7786.MCR-15-0203

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