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Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Paracchini L, Beltrame L, Boeri L, Fusco F, Caffarra P, Marchini S, Albani D, Forloni G.

Alzheimers Res Ther. 2018 Oct 12;10(1):106. doi: 10.1186/s13195-018-0435-2.


Integrative approach to sporadic Alzheimer's disease: deficiency of TYROBP in cerebral Aβ amyloidosis mouse normalizes clinical phenotype and complement subnetwork molecular pathology without reducing Aβ burden.

Haure-Mirande JV, Wang M, Audrain M, Fanutza T, Kim SH, Heja S, Readhead B, Dudley JT, Blitzer RD, Schadt EE, Zhang B, Gandy S, Ehrlich ME.

Mol Psychiatry. 2018 Oct 3. doi: 10.1038/s41380-018-0255-6. [Epub ahead of print]


Presenilin 1 Regulates NF-κB Activation via Association with Breakpoint Cluster Region and Casein Kinase II.

Tanaka Y, Sabharwal L, Ota M, Nakagawa I, Jiang JJ, Arima Y, Ogura H, Okochi M, Ishii M, Kamimura D, Murakami M.

J Immunol. 2018 Oct 15;201(8):2256-2263. doi: 10.4049/jimmunol.1701446. Epub 2018 Sep 10.


PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

Bagyinszky E, Lee HM, Van Giau V, Koh SB, Jeong JH, An SSA, Kim S.

Int J Mol Sci. 2018 Sep 2;19(9). pii: E2604. doi: 10.3390/ijms19092604.


An In-Silico Investigation of Key Lysine Residues and Their Selection for Clearing off Aβ and Holo-AβPP Through Ubiquitination.

Kumar D, Kumar P.

Interdiscip Sci. 2018 Sep 7. doi: 10.1007/s12539-018-0307-2. [Epub ahead of print]


Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.

Giau VV, Wang MJ, Bagyinszky E, Youn YC, An SSA, Kim S.

Neurobiol Aging. 2018 Aug 9. pii: S0197-4580(18)30286-0. doi: 10.1016/j.neurobiolaging.2018.08.003. [Epub ahead of print]


Altered glutamate clearance in ascorbate deficient mice increases seizure susceptibility and contributes to cognitive impairment in APP/PSEN1 mice.

Mi DJ, Dixit S, Warner TA, Kennard JA, Scharf DA, Kessler ES, Moore LM, Consoli DC, Bown CW, Eugene AJ, Kang JQ, Harrison FE.

Neurobiol Aging. 2018 Nov;71:241-254. doi: 10.1016/j.neurobiolaging.2018.08.002. Epub 2018 Aug 7.


Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with Either Sporadic or Familial Alzheimer's Disease.

Bell SM, Barnes K, Clemmens H, Al-Rafiah AR, Al-Ofi EA, Leech V, Bandmann O, Shaw PJ, Blackburn DJ, Ferraiuolo L, Mortiboys H.

J Mol Biol. 2018 Oct 19;430(21):3942-3953. doi: 10.1016/j.jmb.2018.08.019. Epub 2018 Aug 29.


Monogenic inheritance in early-onset dementia: illustration in Alzheimer's disease and frontotemporal lobar dementia.

Barbier M, Wallon D, Le Ber I.

Geriatr Psychol Neuropsychiatr Vieil. 2018 Sep 1;16(3):289-297. doi: 10.1684/pnv.2018.0744.


Dysregulation of Neuronal Iron Homeostasis as an Alternative Unifying Effect of Mutations Causing Familial Alzheimer's Disease.

Lumsden AL, Rogers JT, Majd S, Newman M, Sutherland GT, Verdile G, Lardelli M.

Front Neurosci. 2018 Aug 13;12:533. doi: 10.3389/fnins.2018.00533. eCollection 2018.


Focused Ultrasound-Induced Blood-Brain Barrier Opening Enhances GSK-3 Inhibitor Delivery for Amyloid-Beta Plaque Reduction.

Hsu PH, Lin YT, Chung YH, Lin KJ, Yang LY, Yen TC, Liu HL.

Sci Rep. 2018 Aug 27;8(1):12882. doi: 10.1038/s41598-018-31071-8.


Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1.

Muñoz SS, Balez R, Castro Cabral-da-Silva ME, Berg T, Engel M, Bax M, Do-Ha D, Stevens CH, Greenough M, Bush A, Ooi L.

Stem Cell Res. 2018 Aug;31:227-230. doi: 10.1016/j.scr.2018.08.006. Epub 2018 Aug 13.


Beta-secretase/BACE1 promotes APP endocytosis and processing in the endosomes and on cell membrane.

Wang M, Jing T, Wang X, Yao D.

Neurosci Lett. 2018 Oct 15;685:63-67. doi: 10.1016/j.neulet.2018.08.016. Epub 2018 Aug 16.


Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A.

Alzheimers Dement. 2018 Aug 13. pii: S1552-5260(18)33245-X. doi: 10.1016/j.jalz.2018.06.3056. [Epub ahead of print]


Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease.

Vélez JI, Lopera F, Creagh PK, Piñeros LB, Das D, Cervantes-Henríquez ML, Acosta-López JE, Isaza-Ruget MA, Espinosa LG, Easteal S, Quintero GA, Silva CT, Mastronardi CA, Arcos-Burgos M.

Mol Neurobiol. 2018 Aug 15. doi: 10.1007/s12035-018-1298-z. [Epub ahead of print]


Integrative computational evaluation of genetic markers for Alzheimer's disease.

Li Z, Xiong Z, Manor LC, Cao H, Li T.

Saudi J Biol Sci. 2018 Jul;25(5):996-1002. doi: 10.1016/j.sjbs.2018.05.019. Epub 2018 May 18.


A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Giau VV, Pyun JM, Bagyinszky E, An SSA, Kim S.

Clin Interv Aging. 2018 Jul 31;13:1321-1329. doi: 10.2147/CIA.S170374. eCollection 2018.


Adherence/Retention Alzheimer's Prevention Initiative Colombia Plan.

Rios-Romenets S, Acosta-Baena N, Lopez L, Madrigal-Zapata L, Street H, Jakimovich L, Langbaum JB, Cho W, Reiman EM, Tariot PN, Lopera F.

Alzheimers Dement (N Y). 2018 Jul 14;4:283-287. doi: 10.1016/j.trci.2018.06.010. eCollection 2018.


The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Xu Y, Liu X, Shen J, Tian W, Fang R, Li B, Ma J, Cao L, Chen S, Li G, Tang H.

Aging Dis. 2018 Aug 1;9(4):696-705. doi: 10.14336/AD.2018.0208. eCollection 2018 Aug.


Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Karch CM, Hernández D, Wang JC, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Pébay A, Goate AM.

Alzheimers Res Ther. 2018 Jul 25;10(1):69. doi: 10.1186/s13195-018-0400-0.

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