Details of Disease

General Information of Disease (ID: DISE75U4)

Disease Name Familial Alzheimer disease
Synonyms GARD:0000632; FAD; Alzheimer disease, familial
Definition
A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.
Disease Hierarchy
DISF8S70: Alzheimer disease
DISE75U4: Familial Alzheimer disease
Disease Identifiers
MONDO ID
MONDO_0100087
MESH ID
D000544
UMLS CUI
C0276496
MedGen ID
82914

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 58 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ESR1 TTZAYWL Limited Biomarker [1]
IDE TT2EDHU Limited Biomarker [2]
ITPR1 TT5HWAT Limited Genetic Variation [3]
ITPR2 TTK9OV3 Limited Biomarker [3]
ITPR3 TTH1769 Limited Genetic Variation [3]
MAOB TTGP7BY moderate Biomarker [4]
ACHE TT1RS9F Strong Biomarker [5]
ACKR1 TTKY2NS Strong Biomarker [6]
ADAMTS1 TTS2TEI Strong Biomarker [7]
BACE1 TTJUNZF Strong Genetic Variation [8]
BAX TTQ57WJ Strong Biomarker [9]
BCHE TT3MSAO Strong Biomarker [10]
BDNF TTSMLOH Strong Biomarker [11]
C9orf72 TTA4SHR Strong Biomarker [12]
CASP3 TTPF2QI Strong Altered Expression [13]
CASP6 TTKW4ML Strong Biomarker [14]
CD33 TTJVYO3 Strong Biomarker [15]
CHRNA7 TTLA931 Strong Biomarker [16]
CHRNB2 TT5KPZR Strong Biomarker [1]
CLU TTRL76H Strong Biomarker [15]
CR1 TTEA8OW Strong Biomarker [15]
CRH TTA7YIZ Strong Therapeutic [17]
CTSD TTPT2QI Strong Biomarker [18]
CYP2D6 TTVG215 Strong Biomarker [19]
CYP46A1 TT4EB85 Strong Biomarker [20]
DHCR24 TTTK0NH Strong Biomarker [21]
DLG4 TT9PB26 Strong Biomarker [22]
DPYSL2 TTZCW3T Strong Biomarker [23]
EIF2AK3 TT79U1M Strong Altered Expression [24]
EPHA1 TTLFZVU Strong Biomarker [15]
F2 TT6L509 Strong Biomarker [25]
GSK3B TTRSMW9 Strong Biomarker [26]
HMOX1 TTI6V2A Strong Biomarker [27]
IGF1 TTT6LOU Strong Biomarker [28]
IGF1R TTQFBMY Strong Biomarker [28]
IGF2 TTE8WGO Strong Biomarker [28]
IGF2R TTPNE41 Strong Biomarker [28]
INPP5D TTTP2Z1 Strong Biomarker [29]
INS TTZOPHG Strong Biomarker [28]
INSR TTCBFJO Strong Biomarker [30]
LEP TTBJEZ5 Strong Therapeutic [31]
MPO TTVCZPI Strong Biomarker [32]
MTHFR TTQWOU1 Strong Biomarker [1]
NOS3 TTCM4B3 Strong Biomarker [33]
NPY TT64REZ Strong Biomarker [34]
PGRMC1 TTY3LAZ Strong Biomarker [35]
PPARG TTT2SVW Strong Biomarker [36]
PRNP TTY5F9C Strong Biomarker [37]
PYY TTVFJLX Strong Biomarker [34]
RAB7A TTF6WAQ Strong Genetic Variation [38]
RAB9A TT958S6 Strong Biomarker [38]
SLC2A4 TTP6MT5 Strong Biomarker [30]
TF TT8WXAV Strong Biomarker [1]
TIE1 TTT4236 Strong Biomarker [39]
TPP1 TTOVYPT Strong Biomarker [40]
TREM2 TTQRMSJ Strong Biomarker [41]
MAPT TTS87KH Definitive Biomarker [42]
SNCA TT08OSU Definitive Altered Expression [43]
------------------------------------------------------------------------------------
⏷ Show the Full List of 58 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCA7 DTDVSJA Strong Genetic Variation [44]
SLC30A4 DT280XI Strong Biomarker [45]
SLC30A6 DTKPRIL Strong Biomarker [45]
------------------------------------------------------------------------------------
This Disease Is Related to 61 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACE OTDF1964 Limited Biomarker [7]
BIN1 OTK8O0X8 Limited Biomarker [46]
HFE OTDD93KB Limited Biomarker [47]
NCSTN OT5QBTA4 Limited Biomarker [1]
NEFL OTQESJV4 Limited Biomarker [48]
PSENEN OTJ7M7G9 Limited Genetic Variation [49]
SORL1 OTQ8FFNS moderate Biomarker [50]
A2M OTFTX90K Strong Genetic Variation [51]
ABI3 OTQTDSHP Strong Biomarker [41]
ADI1 OT8IOD03 Strong Biomarker [52]
ALG3 OTPOL1QW Strong Biomarker [53]
AMFR OTQRX7LC Strong Biomarker [54]
APBB1 OTZPVSSC Strong Biomarker [55]
APLP1 OTD176ZS Strong Biomarker [56]
APOC1 OTA58CED Strong Biomarker [57]
ARC OTN2QQPG Strong Biomarker [58]
ATP5F1A OT3FZDLX Strong Biomarker [23]
CAMK4 OT47RDGV Strong Biomarker [59]
CASS4 OTGPIPUS Strong Biomarker [29]
CD2AP OTC76KQM Strong Biomarker [29]
CST3 OTNZ6AO4 Strong Biomarker [1]
DLX4 OTLWVCN4 Strong Altered Expression [60]
DNLZ OT48CG1W Strong Biomarker [61]
DOCK3 OTF3YS2W Strong Altered Expression [62]
EIF2S1 OTM0GDTP Strong Biomarker [63]
ENO1 OTB1KWJS Strong Biomarker [23]
FANCD2 OTVEB5LF Strong Biomarker [64]
FLAD1 OTY8R02L Strong Altered Expression [65]
GAPDHS OT7YUSA5 Strong Biomarker [1]
GCHFR OTEOT8GI Strong Biomarker [66]
HLA-DRB5 OTUX5TWM Strong Biomarker [67]
IQCK OT4QNL67 Strong Biomarker [7]
ITM2B OTMXEPXB Strong Biomarker [68]
KCNIP3 OTCQPEM4 Strong Biomarker [69]
LRP8 OTZ71YV2 Strong Genetic Variation [70]
MED1 OTOO24C4 Strong Biomarker [71]
MEOX2 OTKZCJCB Strong Genetic Variation [72]
MMUT OTBBBV70 Strong Biomarker [73]
MPEG1 OT7DAO0F Strong Biomarker [74]
MS4A4A OTWV82RP Strong Biomarker [15]
NECTIN2 OTIE0W6O Strong Biomarker [57]
NRGN OTVGE10W Strong Biomarker [75]
NRXN3 OTJ0I7HJ Strong Biomarker [76]
PCDH11X OTLICG18 Strong Biomarker [77]
PICALM OTQVRPMQ Strong Biomarker [15]
PLCG2 OTGVC9MY Strong Biomarker [41]
PTS OTTYWQXR Strong Genetic Variation [78]
PYCR1 OTQHB52T Strong Genetic Variation [79]
RELN OTLKMW1O Strong Biomarker [80]
RPS21 OT6P58W6 Strong Genetic Variation [81]
RPS27 OTFXKY7P Strong Biomarker [74]
SDC3 OT1P0LJM Strong Biomarker [39]
SERPINA3 OT9BP2S0 Strong Genetic Variation [82]
SPPL2B OTI1PHMP Strong Genetic Variation [83]
SPRR2A OT62ZU6B Strong Genetic Variation [18]
SYNJ1 OTTE02XC Strong Genetic Variation [84]
TFAM OTXXV5V7 Strong Biomarker [1]
TOMM40 OTZDQ29F Strong Biomarker [57]
TPI1 OT14KP4B Strong Biomarker [23]
TSPAN6 OT8X0NWN Strong Biomarker [85]
TTC3 OTTR9WUC Strong Biomarker [86]
------------------------------------------------------------------------------------
⏷ Show the Full List of 61 DOT(s)

References

1 Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.Nat Genet. 2007 Jan;39(1):17-23. doi: 10.1038/ng1934.
2 Differential cerebral deposition of IDE and NEP in sporadic and familial Alzheimer's disease.Neurobiol Aging. 2010 Oct;31(10):1743-57. doi: 10.1016/j.neurobiolaging.2008.09.016. Epub 2008 Nov 18.
3 The gain-of-function enhancement of IP3-receptor channel gating by familial Alzheimer's disease-linked presenilin mutants increases the open probability of mitochondrial permeability transition pore.Cell Calcium. 2016 Jul;60(1):13-24. doi: 10.1016/j.ceca.2016.05.002. Epub 2016 May 7.
4 Up-regulation of the isoenzymes MAO-A and MAO-B in the human basal ganglia and pons in Huntington's disease revealed by quantitative enzyme radioautography.Brain Res. 2011 Jan 25;1370:204-14. doi: 10.1016/j.brainres.2010.11.020. Epub 2010 Nov 11.
5 Characterisation of acetylcholinesterase release from neuronal cells.Chem Biol Interact. 2013 Mar 25;203(1):302-8. doi: 10.1016/j.cbi.2012.09.019. Epub 2012 Oct 6.
6 Reactivation of HSV-1 in the brain of patients with familial Alzheimer's disease.J Med Virol. 2004 Aug;73(4):605-11. doi: 10.1002/jmv.20133.
7 Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A, tau, immunity and lipid processing.Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28.
8 Facilitation of glutamate, but not GABA, release in Familial Alzheimer's APP mutant Knock-in rats with increased -cleavage of APP.Aging Cell. 2019 Dec;18(6):e13033. doi: 10.1111/acel.13033. Epub 2019 Sep 9.
9 Loss of phospholipid asymmetry and elevated brain apoptotic protein levels in subjects with amnestic mild cognitive impairment and Alzheimer disease.Neurobiol Dis. 2008 Mar;29(3):456-64. doi: 10.1016/j.nbd.2007.11.004. Epub 2007 Nov 12.
10 Association analysis between K and -116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population.Chem Biol Interact. 2013 Mar 25;203(1):358-60. doi: 10.1016/j.cbi.2012.09.008. Epub 2012 Sep 27.
11 Oligomeric amyloid decreases basal levels of brain-derived neurotrophic factor (BDNF) mRNA via specific downregulation of BDNF transcripts IV and V in differentiated human neuroblastoma cells.J Neurosci. 2007 Mar 7;27(10):2628-35. doi: 10.1523/JNEUROSCI.5053-06.2007.
12 Mutational analysis in early-onset familial Alzheimer's disease inMainland China.Neurobiol Aging. 2014 Aug;35(8):1957.e1-6. doi: 10.1016/j.neurobiolaging.2014.02.014. Epub 2014 Feb 20.
13 Wild-type but not FAD mutant presenilin-1 prevents neuronal degeneration by promoting phosphatidylinositol 3-kinase neuroprotective signaling.J Neurosci. 2008 Jan 9;28(2):483-90. doi: 10.1523/JNEUROSCI.4067-07.2008.
14 Familial amyloid precursor protein mutants cause caspase-6-dependent but amyloid -peptide-independent neuronal degeneration in primary human neuron cultures.Cell Death Dis. 2010 Nov 18;1(11):e100. doi: 10.1038/cddis.2010.74.
15 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.Nat Genet. 2011 May;43(5):436-41. doi: 10.1038/ng.801. Epub 2011 Apr 3.
16 Alpha7 nicotinic receptor up-regulation in cholinergic basal forebrain neurons in Alzheimer disease.Arch Neurol. 2007 Dec;64(12):1771-6. doi: 10.1001/archneur.64.12.1771.
17 Displacement of corticotropin releasing factor from its binding protein as a possible treatment for Alzheimer's disease.Nature. 1995 Nov 16;378(6554):284-7. doi: 10.1038/378284a0.
18 Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.Neuroscience. 2014 Mar 28;263:111-24. doi: 10.1016/j.neuroscience.2014.01.001. Epub 2014 Jan 10.
19 The CYP2D6B allele is associated with a milder synaptic pathology in Alzheimer's disease.Ann Neurol. 1995 Oct;38(4):653-8. doi: 10.1002/ana.410380415.
20 CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism.Eur Psychiatry. 2009 Apr;24(3):183-90. doi: 10.1016/j.eurpsy.2008.12.005. Epub 2009 Mar 16.
21 Alzheimer's disease: brain desmosterol levels. J Alzheimers Dis. 2013;33(3):881-8.
22 Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.Brain. 2014 May;137(Pt 5):1533-49. doi: 10.1093/brain/awu046. Epub 2014 Mar 12.
23 Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD. Brain Res. 2009 Jun 5;1274:66-76. doi: 10.1016/j.brainres.2009.04.009. Epub 2009 Apr 15.
24 Suppression of eIF2 kinases alleviates Alzheimer's disease-related plasticity and memory deficits.Nat Neurosci. 2013 Sep;16(9):1299-305. doi: 10.1038/nn.3486. Epub 2013 Aug 11.
25 Non-age related differences in thrombin responses by platelets from male patients with advanced Alzheimer's disease.Biochem Biophys Res Commun. 1993 Jul 15;194(1):537-43. doi: 10.1006/bbrc.1993.1853.
26 Lithium treatment induces proteasomal degradation of over-expressed acetylcholinesterase (AChE-S) and inhibit GSK3beta. Chem Biol Interact. 2013 Mar 25;203(1):309-13.
27 Amyloid precursor proteins inhibit heme oxygenase activity and augment neurotoxicity in Alzheimer's disease.Neuron. 2000 Nov;28(2):461-73. doi: 10.1016/s0896-6273(00)00125-2.
28 Impaired insulin and insulin-like growth factor expression and signaling mechanisms in Alzheimer's disease--is this type 3 diabetes?.J Alzheimers Dis. 2005 Feb;7(1):63-80. doi: 10.3233/jad-2005-7107.
29 Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers.J Alzheimers Dis. 2018;66(2):639-652. doi: 10.3233/JAD-180512.
30 Long-term oral galactose treatment prevents cognitive deficits in male Wistar rats treated intracerebroventricularly with streptozotocin.Neuropharmacology. 2014 Feb;77:68-80. doi: 10.1016/j.neuropharm.2013.09.002. Epub 2013 Sep 18.
31 Leptin reduces the accumulation of Abeta and phosphorylated tau induced by 27-hydroxycholesterol in rabbit organotypic slices.J Alzheimers Dis. 2010;19(3):1007-19. doi: 10.3233/JAD-2010-1298.
32 Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.Arch Neurol. 2004 Mar;61(3):341-4. doi: 10.1001/archneur.61.3.341.
33 Genetic association between endothelial nitric oxide synthase and Alzheimer disease.Clin Genet. 2006 Jul;70(1):49-56. doi: 10.1111/j.1399-0004.2006.00638.x.
34 Neuropeptide Y, peptide YY and aluminum in Alzheimer's disease: is there an etiological relationship?.J Inorg Biochem. 2001 Nov;87(1-2):51-6. doi: 10.1016/s0162-0134(01)00314-2.
35 Alzheimer's therapeutics targeting amyloid beta 1-42 oligomers II: Sigma-2/PGRMC1 receptors mediate Abeta 42 oligomer binding and synaptotoxicity.PLoS One. 2014 Nov 12;9(11):e111899. doi: 10.1371/journal.pone.0111899. eCollection 2014.
36 Inhibition of miR-128 Abates A-Mediated Cytotoxicity by Targeting PPAR- via NF-B Inactivation in Primary Mouse Cortical Neurons and Neuro2a Cells.Yonsei Med J. 2018 Nov;59(9):1096-1106. doi: 10.3349/ymj.2018.59.9.1096.
37 Structural and mechanistic commonalities of amyloid-and the prion protein.Prion. 2011 Jul-Sep;5(3):126-37. doi: 10.4161/pri.5.3.17025. Epub 2011 Jul 1.
38 Strain-Specific Altered Regulatory Response of Rab7a and Tau in Creutzfeldt-Jakob Disease and Alzheimer's Disease.Mol Neurobiol. 2017 Jan;54(1):697-709. doi: 10.1007/s12035-016-9694-8. Epub 2016 Jan 14.
39 In silico Analysis of Gamma-Secretase-Complex Mutations in Hidradenitis Suppurativa Demonstrates Disease-Specific Substrate Recognition and Cleavage Alterations.Front Med (Lausanne). 2019 Sep 19;6:206. doi: 10.3389/fmed.2019.00206. eCollection 2019.
40 Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.Neurosci Lett. 1999 Apr 2;264(1-3):157-60. doi: 10.1016/s0304-3940(99)00095-6.
41 Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.
42 Synuclein impairs trafficking and signaling of BDNF in a mouse model of Parkinson's disease.Sci Rep. 2017 Jun 20;7(1):3868. doi: 10.1038/s41598-017-04232-4.
43 The relevance of cerebrospinal fluid -synuclein levels to sporadic and familial Alzheimer's disease.Acta Neuropathol Commun. 2018 Nov 26;6(1):130. doi: 10.1186/s40478-018-0624-z.
44 ABCA7 rare variants and Alzheimer disease risk.Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1.
45 Altered expression of zinc transporters-4 and -6 in mild cognitive impairment, early and late Alzheimer's disease brain.Neuroscience. 2006 Jul 7;140(3):879-88. doi: 10.1016/j.neuroscience.2006.02.049. Epub 2006 Apr 3.
46 BIN1 is decreased in sporadic but not familial Alzheimer's disease or in aging.PLoS One. 2013 Oct 21;8(10):e78806. doi: 10.1371/journal.pone.0078806. eCollection 2013.
47 Iron genes, iron load and risk of Alzheimer's disease.J Med Genet. 2006 Oct;43(10):e52. doi: 10.1136/jmg.2006.040519.
48 Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.Alzheimers Res Ther. 2019 Feb 20;11(1):19. doi: 10.1186/s13195-019-0472-5.
49 Presenilin enhancer-2 gene: identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease.Alzheimers Dement. 2011 Nov;7(6):574-8. doi: 10.1016/j.jalz.2011.02.010.
50 SORL1 Variants in Familial Alzheimer's Disease.J Alzheimers Dis. 2018;61(4):1275-1281. doi: 10.3233/JAD-170590.
51 Pharmacogenetic Study on the Impact of Rivastigmine Concerning Genetic Variants of A2M and IL-6 Genes on Iranian Alzheimer's Patients.Mol Neurobiol. 2016 Sep;53(7):4521-8. doi: 10.1007/s12035-015-9387-8. Epub 2015 Aug 21.
52 Presenilin function in Caenorhabditis elegans.Neurodegener Dis. 2006;3(4-5):227-32. doi: 10.1159/000095260.
53 Functional cloning of genes involved in T-cell receptor-induced programmed cell death.Semin Immunol. 1997 Feb;9(1):17-23. doi: 10.1006/smim.1996.0057.
54 Autocrine motility factor receptor is involved in the process of learning and memory in the central nervous system.Behav Brain Res. 2012 Apr 15;229(2):412-8. doi: 10.1016/j.bbr.2012.01.043. Epub 2012 Jan 31.
55 Interaction of the phosphotyrosine interaction/phosphotyrosine binding-related domains of Fe65 with wild-type and mutant Alzheimer's beta-amyloid precursor proteins.J Biol Chem. 1997 Mar 7;272(10):6399-405. doi: 10.1074/jbc.272.10.6399.
56 Search for the genes responsible for familial Alzheimer's disease.Ann N Y Acad Sci. 1993 Sep 24;695:203-8. doi: 10.1111/j.1749-6632.1993.tb23053.x.
57 Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses.Exp Gerontol. 2018 Jul 1;107:148-160. doi: 10.1016/j.exger.2017.10.020. Epub 2017 Oct 26.
58 Activity-regulated cytoskeleton-associated protein in rodent brain is down-regulated by high fat diet in vivo and by 27-hydroxycholesterol in vitro.Brain Pathol. 2009 Jan;19(1):69-80. doi: 10.1111/j.1750-3639.2008.00174.x. Epub 2008 May 23.
59 Constitutive cAMP response element binding protein (CREB) activation by Alzheimer's disease presenilin-driven inositol trisphosphate receptor (InsP3R) Ca2+ signaling.Proc Natl Acad Sci U S A. 2011 Aug 9;108(32):13293-8. doi: 10.1073/pnas.1109297108. Epub 2011 Jul 22.
60 Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites.J Neurochem. 1998 Oct;71(4):1535-43. doi: 10.1046/j.1471-4159.1998.71041535.x.
61 Expression of mutant amyloid precursor proteins decreases adhesion and delays differentiation of Hep-1 cells.Brain Res. 2001 Mar 30;896(1-2):146-52. doi: 10.1016/s0006-8993(01)02153-9.
62 MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid precursor protein and presenilins.Biochem J. 2012 Mar 1;442(2):413-22. doi: 10.1042/BJ20100993.
63 Minocycline attenuates neuronal cell death and improves cognitive impairment in Alzheimer's disease models.Neuropsychopharmacology. 2007 Nov;32(11):2393-404. doi: 10.1038/sj.npp.1301377. Epub 2007 Apr 4.
64 A Dynamic Core in Human NQO1 Controls the Functional and Stability Effects of Ligand Binding and Their Communication across the Enzyme Dimer.Biomolecules. 2019 Nov 12;9(11):728. doi: 10.3390/biom9110728.
65 Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.
66 Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia.J Neurosci. 2017 Oct 11;37(41):9917-9924. doi: 10.1523/JNEUROSCI.0621-17.2017. Epub 2017 Sep 14.
67 Genetic variation associated with the occurrence and progression of neurological disorders.Neurotoxicology. 2017 Jul;61:243-264. doi: 10.1016/j.neuro.2016.09.018. Epub 2016 Oct 3.
68 Deletion of the -secretase subunits Aph1B/C impairs memory and worsens the deficits of knock-in mice modeling the Alzheimer-like familial Danish dementia.Oncotarget. 2016 Mar 15;7(11):11923-44. doi: 10.18632/oncotarget.7389.
69 Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2.J Biol Chem. 2001 Jun 1;276(22):19197-204. doi: 10.1074/jbc.M008597200. Epub 2001 Mar 9.
70 Presenilin 1 mutations influence processing and trafficking of the ApoE receptor apoER2.Neurobiol Aging. 2017 Jan;49:145-153. doi: 10.1016/j.neurobiolaging.2016.10.005. Epub 2016 Oct 11.
71 Isolation and characterization of novel presenilin binding protein.J Neurochem. 2000 Jul;75(1):109-16. doi: 10.1046/j.1471-4159.2000.0750109.x.
72 Generation of induced pluripotent stem cell line (ZZUi0013-A) from a 65-year-old patient with a novel MEOX2 gene mutation in Alzheimer's disease.Stem Cell Res. 2019 Jan;34:101366. doi: 10.1016/j.scr.2018.101366. Epub 2018 Dec 27.
73 Mixtures of wild-type and a pathogenic (E22G) form of Abeta40 in vitro accumulate protofibrils, including amyloid pores.J Mol Biol. 2003 Sep 26;332(4):795-808. doi: 10.1016/s0022-2836(03)00927-6.
74 Presenilin 1 Regulates [Ca(2+)]i and Mitochondria/ER Interaction in Cultured Rat Hippocampal Neurons.Oxid Med Cell Longev. 2019 Jul 28;2019:7284967. doi: 10.1155/2019/7284967. eCollection 2019.
75 The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer's disease.Acta Neuropathol. 2019 Jan;137(1):89-102. doi: 10.1007/s00401-018-1910-3. Epub 2018 Sep 22.
76 Genetic study of neurexin and neuroligin genes in Alzheimer's disease.J Alzheimers Dis. 2013;35(2):403-12. doi: 10.3233/JAD-122257.
77 Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.Nat Genet. 2009 Feb;41(2):192-8. doi: 10.1038/ng.305. Epub 2009 Jan 11.
78 Chromosome-wide assessment of replication timing for human chromosomes 11q and 21q: disease-related genes in timing-switch regions.Hum Mol Genet. 2002 Jan 1;11(1):13-21. doi: 10.1093/hmg/11.1.13.
79 Detailed characterization of neuroprotection by a rescue factor humanin against various Alzheimer's disease-relevant insults.J Neurosci. 2001 Dec 1;21(23):9235-45. doi: 10.1523/JNEUROSCI.21-23-09235.2001.
80 Reduced Reelin expression accelerates amyloid-beta plaque formation and tau pathology in transgenic Alzheimer's disease mice.J Neurosci. 2010 Jul 7;30(27):9228-40. doi: 10.1523/JNEUROSCI.0418-10.2010.
81 Studying the Specific Activity of the Amide Form of HLDF-6 Peptide using the Transgenic Model of Alzheimer's Disease.Acta Naturae. 2017 Jul-Sep;9(3):64-70.
82 Apolipoprotein E and alpha-1-antichymotrypsin allele polymorphism in sporadic and familial Alzheimer's disease.Neurosci Lett. 1999 Aug 6;270(3):129-32. doi: 10.1016/s0304-3940(99)00468-1.
83 Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation.J Biol Chem. 2008 Oct 31;283(44):30121-8. doi: 10.1074/jbc.M806092200. Epub 2008 Sep 3.
84 Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.Cell Rep. 2018 Jun 5;23(10):2967-2975. doi: 10.1016/j.celrep.2018.05.011.
85 Tetraspanin 6: a pivotal protein of the multiple vesicular body determining exosome release and lysosomal degradation of amyloid precursor protein fragments.Mol Neurodegener. 2017 Mar 10;12(1):25. doi: 10.1186/s13024-017-0165-0.
86 Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.Neuromolecular Med. 2019 Mar;21(1):85-96. doi: 10.1007/s12017-018-8509-7. Epub 2018 Sep 10.