PAPER Chakrabarti A, Roy K, Mukhopadhyay D
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PAPER Lupton MK, Proitsi P, Lin K, Hamilton G, Daniilidou M, Tsolaki M, Powell JF
The Role of ABCA1 Gene Sequence Variants on Risk of Alzheimer's Disease.
J Alzheimers Dis. 2013 Sep 30; PubMed: 24081377PAPER Nelson AR, Kolasa K, McMahon LL
Noradrenergic Sympathetic Sprouting and Cholinergic Reinnervation Maintains Non-Amyloidogenic Processing of AβPP.
J Alzheimers Dis. 2013 Sep 30; PubMed: 24081376PAPER Yan XX, Ma C, Gai WP, Cai H, Luo XG
Can BACE1 Inhibition Mitigate Early Axonal Pathology in Neurological Diseases?
J Alzheimers Dis. 2013 Sep 30; PubMed: 24081378PAPER Percy M, Garcia A, Somerville MJ, Hicks M, Colelli T, Wright E, Kitaygorodsky J, Jiang A, Ho V, Parpia A, Wong MK
Risk Factors for Development of Dementia in a Unique Six-Year Cohort Study. I. An Exploratory, Pilot Study of Involvement of the E4 Allele of Apolipoprotein E, Mutations of the Hemochromatosis-HFE Gene, Type 2 Diabetes, and Stroke.
J Alzheimers Dis. 2013 Sep 30; PubMed: 24081379PAPER Bhogal P, Mahoney C, Graeme-Baker S, Roy A, Shah S, Fraioli F, Cowley P, Jäger HR
The common dementias: a pictorial review.
Eur Radiol. 2013 Dec;23(12):3405-17. PubMed: 24081643PAPER Bosco P, Ferri R, Salluzzo MG, Castellano S, Signorelli M, Nicoletti F, Nuovo SD, Drago F, Caraci F
Role of the Transforming-Growth-Factor-β1 Gene in Late-Onset Alzheimer's Disease: Implications for the Treatment.
Curr Genomics. 2013 Apr;14(2):147-56. PubMed: 24082824PAPER Defina PA, Moser RS, Glenn M, Lichtenstein JD, Fellus J
Alzheimer's Disease Clinical and Research Update for Health Care Practitioners.
J Aging Res. 2013;2013:207178. PubMed: 24083026PAPER Mungas D, Tractenberg R, Schneider JA, Crane PK, Bennett DA
A 2-process model for neuropathology of Alzheimer's disease.
Neurobiol Aging. 2014 Feb;35(2):301-8. PubMed: 24080173PAPER Wang WY, Pan L, Su SC, Quinn EJ, Sasaki M, Jimenez JC, Mackenzie IR, Huang EJ, Tsai LH
Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.
Nat Neurosci. 2013 Oct;16(10):1383-91. PubMed: 24036913PAPER
[Nikolai Nikolaevich Zhukov-Verezhnikov (on his 70th birthday)].
Brain Dev. 2013 Sep 26; PubMed: 153078PSEN1 I202F
MUTATIONS PSEN1 73659407 GRCh37/hg19 A T Exon 7 Point, Missense Coding Reduced Aβ38 and Aβ37 production, as well as Aβ38/Aβ42 and Aβ37/Aβ42 ratios in membranes isolated from patient brains and transgenic cultured cells. Neuropathology was consistent with AD, wit
PSEN1 L226F
MUTATIONS PSEN1 73659479 GRCh37/hg19 rs63750487 C T Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42; increased Aβ40. Neuropathology consistent with AD. L226F Alzheimer's Disease: PathogenicAlzheimer's Disease, Frontotemporal Dement
PSEN1 L235R
MUTATIONS PSEN1 73659507 GRCh37/hg19 T G Exon 7 Point, Missense Coding Drastically decreased Aβ42 production and abrogated Aβ40 production in vitro. Also, caused incomplete endoproteolytic processing of PSEN1. Predicted possibly damaging in silico. Unknown; MRI sho
PSEN1 T116R
MUTATIONS PSEN1 73640281_73640283 GRCh37/hg19 Exon 5 Coding Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It increased Aβ42 and 43 production at the expense of Aβ37, 38 and 40, and reduced to
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