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Recombinant Presenilin 1/PS-1 Antibody - Primary antibody, specific to PSEN1, Rabbit IgG

    Application:
  • IF/ICC
  • WB
Features and benefits
  • Host species: Rabbit
  • Species reactivity(Reacts with): Human,Mouse,Rat
  • Isotype: Rabbit IgG
  • Conjugation: Unconjugated
Item Number
Ab123023
Grouped product items
SKUSizeAvailabilityPrice Qty
Ab123023-10μl
10μl
In stock
$66.90
Ab123023-50μl
50μl
In stock
$199.90
Ab123023-100μl
100μl
Available within 8-12 weeks(?)
Production requires sourcing of materials. We appreciate your patience and understanding.
$299.90
Ab123023-1ml
1ml
Available within 8-12 weeks(?)
Production requires sourcing of materials. We appreciate your patience and understanding.
$2,699.90
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Recombinant; Rabbit anti Human Presenilin 1/PS-1 Antibody; WB, IF, ICC; Unconjugated

View related series
Click to view target information: PSEN1
Accession#:P49768 Gene ID:5663 Presenilin 1 PS-1 PSEN1

Basic Description

Product NameRecombinant Presenilin 1/PS-1 Antibody - Primary antibody, specific to PSEN1, Rabbit IgG
SynonymsPresenilin-1 NTF subunit | AD 3 | AD3 | Ad3h | Alzheimer Disease 3 | EC 3.4.23. | FAD | Homo Sapiens Clone CC44 Senilin 1 | Presenilin 1 Alzheimer disease 3 | Presenilin 1 | Presenilin1 | Protein S182 | PS 1 | PS-1 | PS1 | PSEN 1 | PSEN1 | PSN 1 | PSN1 |
Specifications & PurityExactAb™, Validated, Recombinant, 0.2 mg/mL
Host speciesRabbit
SpecificityPSEN1
ImmunogenA synthetic peptide derived from human Presenilin 1 (AA 346-361)
Positive ControlWB: HeLa, Jurkat, HEK293, A431, NIH/3T3 and C6 cell lysates. ICC/IF: SKOV-3 cells.
ConjugationUnconjugated
GradeExactAb™, Recombinant, Validated
Product Description

Rabbit anti Human Presenilin 1/PS-1 Antibody, Recombinant, could be used for WB, IF, ICC and so on.
Application:
WB: 1/500-1/1000
ICC/IF: 1/50-1/200
Protein function
Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis.

Product Properties

IsotypeRabbit IgG
SDS-PAGE150 kDa
Purification MethodImmunogen affinity purified
FormLiquid
Concentration0.2 mg/mL
Storage TempStore at -20°C,Avoid repeated freezing and thawing
Shipped InIce chest + Ice pads
Stability And StorageStore at 4°C short term (1-2 weeks). Store at -20°C long term (24 months). Upon delivery aliquot. Avoid freeze/thaw cycle.

Images

Recombinant Presenilin 1/PS-1 Antibody (Ab123023) - Western Blot
All lanes: Recombinant Presenilin 1/PS-1 Antibody (Ab123023) at 1/1000 dilution
Samples: Lysates at 20 µg per lane
Secondary: Goat Anti-Rabbit IgG H&L (HRP) (Ab170144) at 1/20000 dilution

Predicted band size: 20 kDa
Observed band size: 19 kDa
Exposure time: 42.7 s

Recombinant Presenilin 1/PS-1 Antibody (Ab123023) - IF/ICC
Immunocytochemistry analysis of Presenilin 1 (green) in SKOV-3 using Recombinant Presenilin 1/PS-1 Antibody (Ab123023), and cells were counterstained with DAPI (blue).

Associated Targets(Human)

PSEN1 Tchem Presenilin-1 (0 Activities)
Activity TypeActivity Value -log(M)Mechanism of ActionActivity ReferencePublications (PubMed IDs)

Mechanisms of Action

Mechanism of ActionAction Typetarget IDTarget NameTarget TypeTarget OrganismBinding Site NameReferences

Application

ApplicationDilution info
WB1/500-1/1000

">

1/500-1/1000

IF/ICC 1/50-1/200

">

1/50-1/200

Certificates

Certificate of Analysis(COA)

Enter Lot Number to search for COA:

Find and download the COA for your product by matching the lot number on the packaging.

2 results found

Lot NumberCertificate TypeDateItem
ZJ24F0102518Certificate of AnalysisJan 18, 2024 Ab123023
ZJ24F0102519Certificate of AnalysisJan 18, 2024 Ab123023

Related Documents

 SDS

 Specification Sheet

FAQs and Articles

FAQ
Immunofluorescence Staining Protocol (Methanol permeabilization)
Categories: Protocols
Tags:
Frozen section Immunofluorescence staining Tissue section Methanol permeability IF

References

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55. Crook, R R and 9 more authors..  (1997)  Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation..  Annals of neurology,      [PMID:9225696]
56. Lendon, C L CL and 15 more authors..  (1997)  E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles..  Human mutation,      [PMID:9298817]
57. Cruts, M M and 11 more authors..  (1998)  Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease..  Human molecular genetics,      [PMID:9384602]
58. Zhang, W W, Han, S W SW, McKeel, D W DW, Goate, A A and Wu, J Y JY..  (1998)  Interaction of presenilins with the filamin family of actin-binding proteins..  The Journal of neuroscience : the official journal of the Society for Neuroscience,    (1):   [PMID:9437013]
59. Grunberg, J J and 5 more authors..  (1998)  Alzheimer's disease associated presenilin-1 holoprotein and its 18-20 kDa C-terminal fragment are death substrates for proteases of the caspase family..  Biochemistry,    (24):   [PMID:9485372]
60. Wisniewski, T T and 9 more authors..  (1998)  A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years..  Neuroreport,    (26):   [PMID:9507958]
61. Cruts, M M and Van Broeckhoven, C C..  (1998)  Presenilin mutations in Alzheimer's disease..  Human mutation,      [PMID:9521418]
62. Poorkaj, P P and 9 more authors..  (1998)  Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene..  Human mutation,      [PMID:9521423]
63. Dumanchin, C C and 9 more authors..  (1998)  De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group..  Journal of medical genetics,      [PMID:9719376]
64. Murayama, M M and 9 more authors..  (1998)  Direct association of presenilin-1 with beta-catenin..  FEBS letters,    (14):   [PMID:9738936]
65. Taddei, K K and 12 more authors..  (1998)  Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease..  Neuroreport,    (5):   [PMID:9831473]
66. Ramirez-Dueñas, M G MG and 7 more authors..  (1998)  A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease..  Annales de genetique,      [PMID:9833068]
67. Mattila, K M KM and 10 more authors..  (1998)  The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease..  Annals of neurology,      [PMID:9851443]
68. Aldudo, J J, Bullido, M J MJ, Frank, A A and Valdivieso, F F..  (1998)  Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism..  Annals of neurology,      [PMID:9851450]
69. Dermaut, B B and 10 more authors..  (1999)  The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease..  American journal of human genetics,      [PMID:9915968]
70. Ezquerra, M M and 5 more authors..  (1999)  A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures..  Neurology,      [PMID:10025789]
71. Levesque, G G and 18 more authors..  (1999)  Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin..  Journal of neurochemistry,      [PMID:10037471]
72. Palmer, M S MS and 8 more authors..  (1999)  Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online..  Human mutation,      [PMID:10090481]
73. Besançon, R R and 9 more authors..  (1998)  Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr..  Human mutation,      [PMID:10200054]
74. Wolfe, M S MS and 5 more authors..  (1999)  Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity..  Nature,    (8):   [PMID:10206644]
75. Smith, M J MJ and 9 more authors..  (1999)  Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene..  Neuroreport,    (25):   [PMID:10208579]
76. Romero, I I and 7 more authors..  (1999)  A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease..  Neuroreport,    (2):   [PMID:10439444]
77. Campion, D D and 17 more authors..  (1999)  Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum..  American journal of human genetics,      [PMID:10441572]
78. Sugiyama, N N and 7 more authors..  (1999)  A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online..  Human mutation,      [PMID:10447269]
79. Aldudo, J J, Bullido, M J MJ and Valdivieso, F F..  (1999)  DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations..  Human mutation,      [PMID:10533070]
80. Steiner, H H and 8 more authors..  (1999)  Amyloidogenic function of the Alzheimer's disease-associated presenilin 1 in the absence of endoproteolysis..  Biochemistry,    (2):   [PMID:10545183]
81. Xu, X X and 5 more authors..  (1999)  Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein interacting with the C terminus of presenilin-1..  The Journal of biological chemistry,    (12):   [PMID:10551805]
82. Ray, W J WJ and 8 more authors..  (1999)  Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch..  The Journal of biological chemistry,    (17):   [PMID:10593990]
83. Finckh, U U and 10 more authors..  (2000)  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes..  American journal of human genetics,      [PMID:10631141]
84. Yasuda, M M and 7 more authors..  (2000)  Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy..  Journal of neurology, neurosurgery, and psychiatry,      [PMID:10644793]
85. Kulic, L L and 8 more authors..  (2000)  Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch..  Proceedings of the National Academy of Sciences of the United States of America,    (23):   [PMID:10811883]
86. Berezovska, O O and 10 more authors..  (2000)  Aspartate mutations in presenilin and gamma-secretase inhibitors both impair notch1 proteolysis and nuclear translocation with relative preservation of notch1 signaling..  Journal of neurochemistry,      [PMID:10899933]
87. Lewis, P A PA, Perez-Tur, J J, Golde, T E TE and Hardy, J J..  (2000)  The presenilin 1 C92S mutation increases abeta 42 production..  Biochemical and biophysical research communications,    (14):   [PMID:11027672]
88. Raux, G G and 8 more authors..  (2000)  Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation..  Neurology,    (28):   [PMID:11094121]
89. Rogaeva, E A EA and 14 more authors..  (2001)  Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations..  Neurology,    (28):   [PMID:11524469]
90. Sodeyama, N N and 8 more authors..  (2001)  Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile)..  Journal of neurology, neurosurgery, and psychiatry,      [PMID:11561050]
91. Arango, D D and 10 more authors..  (2001)  Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia..  American journal of medical genetics,    (1):   [PMID:11568920]
92. Dermaut, B B and 10 more authors..  (2001)  Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation..  Brain : a journal of neurology,      [PMID:11701593]
93. Athan, E S ES and 21 more authors..  (2001)  A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families..  JAMA,    (14):   [PMID:11710891]
94. Queralt, R R and 9 more authors..  (2002)  A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances..  Journal of neurology, neurosurgery, and psychiatry,      [PMID:11796781]
95. Sai, Xiaorei X and 12 more authors..  (2002)  Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein..  The Journal of biological chemistry,    (12):   [PMID:11799129]
96. Matsubara-Tsutsui, Miho M and 7 more authors..  (2002)  Molecular evidence of presenilin 1 mutation in familial early onset dementia..  American journal of medical genetics,    (8):   [PMID:11920851]
97. Marambaud, Philippe P and 11 more authors..  (2002)  A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions..  The EMBO journal,    (15):   [PMID:11953314]
98. Mirinics, Zeljka Korade ZK and 8 more authors..  ()  Identification of the presenilins in hematopoietic cells with localization of presenilin 1 to neutrophil and platelet granules..  Blood cells, molecules & diseases,      [PMID:11987239]
99. Moehlmann, Tobias T and 10 more authors..  (2002)  Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production..  Proceedings of the National Academy of Sciences of the United States of America,    (11):   [PMID:12048239]
100. Nielsen, Anders Lade AL and 5 more authors..  (2002)  A new splice variant of glial fibrillary acidic protein, GFAP epsilon, interacts with the presenilin proteins..  The Journal of biological chemistry,    (16):   [PMID:12058025]
101. O'Riordan, S S and 7 more authors..  (2002)  Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities..  Neurology,    (8):   [PMID:12370477]
102. Bertoli Avella, A M AM and 9 more authors..  (2002)  A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease..  Neurogenetics,      [PMID:12484344]
103. Kwok, John B J JB and 13 more authors..  (2003)  Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy..  The Journal of biological chemistry,    (28):   [PMID:12493737]
104. Heilig, Roland R and 98 more authors..  (2003)  The DNA sequence and analysis of human chromosome 14..  Nature,    (6):   [PMID:12508121]
105. Janssen, J C JC and 8 more authors..  (2003)  Early onset familial Alzheimer's disease: Mutation frequency in 31 families..  Neurology,    (28):   [PMID:12552037]
106. Edbauer, Dieter D and 5 more authors..  (2003)  Reconstitution of gamma-secretase activity..  Nature cell biology,      [PMID:12679784]
107. Kimberly, W Taylor WT and 5 more authors..  (2003)  Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2..  Proceedings of the National Academy of Sciences of the United States of America,    (27):   [PMID:12740439]
108. Uemura, Kengo K and 7 more authors..  (2003)  Presenilin 1 is involved in maturation and trafficking of N-cadherin to the plasma membrane..  Journal of neuroscience research,    (15):   [PMID:14515347]
109. Fluhrer, Regina R, Friedlein, Arno A, Haass, Christian C and Walter, Jochen J..  (2004)  Phosphorylation of presenilin 1 at the caspase recognition site regulates its proteolytic processing and the progression of apoptosis..  The Journal of biological chemistry,    (16):   [PMID:14576165]
110. Hillman, R Tyler RT, Green, Richard E RE and Brenner, Steven E SE..  (2004)  An unappreciated role for RNA surveillance..  Genome biology,      [PMID:14759258]
111. Dowjat, Wieslaw K WK, Kuchna, Izabela I, Wisniewski, Thomas T and Wegiel, Jerzy J..  (2004)  A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations..  Journal of Alzheimer's disease : JAD,      [PMID:15004326]
112. Dermaut, Bart B and 15 more authors..  (2004)  A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques..  Annals of neurology,      [PMID:15122701]
113. Fraering, Patrick C PC and 9 more authors..  (2004)  Purification and characterization of the human gamma-secretase complex..  Biochemistry,    (3):   [PMID:15274632]
114. Hattori, Sayoko S and 7 more authors..  (2004)  A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis..  Neuroscience letters,    (30):   [PMID:15364419]
115. Friedmann, Elena E and 6 more authors..  (2004)  Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins..  The Journal of biological chemistry,    (3):   [PMID:15385547]
116. Ataka, Suzuka S and 8 more authors..  (2004)  A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis..  Archives of neurology,      [PMID:15534188]
117. Godbolt, A K AK and 6 more authors..  (2004)  A presenilin 1 R278I mutation presenting with language impairment..  Neurology,    (9):   [PMID:15534260]
118. Jia, Jianping J and 5 more authors..  (2005)  One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease..  Journal of Alzheimer's disease : JAD,      [PMID:15851849]
119. Serban, Geo G and 6 more authors..  (2005)  Cadherins mediate both the association between PS1 and beta-catenin and the effects of PS1 on beta-catenin stability..  The Journal of biological chemistry,    (28):   [PMID:16126725]
120. Wang, Jun J and 5 more authors..  (2006)  C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation..  Journal of neurochemistry,      [PMID:16305624]
121. Snider, B Joy BJ and 9 more authors..  (2005)  Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life..  Archives of neurology,      [PMID:16344340]
122. Yescas, Petra P and 7 more authors..  (2006)  Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families..  Neurogenetics,      [PMID:16628450]
123. Kumar-Singh, Samir S and 9 more authors..  (2006)  Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40..  Human mutation,      [PMID:16752394]
124. Murrell, Jill J and 10 more authors..  (2006)  The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families..  Neurogenetics,      [PMID:16897084]
125. Tu, Huiping H and 9 more authors..  (2006)  Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations..  Cell,    (8):   [PMID:16959576]
126. Li, Duanxiang D and 12 more authors..  (2006)  Mutations of presenilin genes in dilated cardiomyopathy and heart failure..  American journal of human genetics,      [PMID:17186461]
127. Kauwe, John S K JS and 8 more authors..  (2007)  Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation..  Annals of neurology,      [PMID:17366635]
128. Litterst, Claudia C and 7 more authors..  (2007)  Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor..  The Journal of biological chemistry,    (1):   [PMID:17428795]
129. Piccini, Alessandra A and 13 more authors..  (2007)  Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype..  Archives of neurology,      [PMID:17502474]
130. Shimojo, Masafumi M and 9 more authors..  (2008)  Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta..  The Journal of biological chemistry,    (13):   [PMID:18430735]
131. Cornier, Alberto S AS and 13 more authors..  (2008)  Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome..  American journal of human genetics,      [PMID:18485326]
132. Daub, Henrik H and 9 more authors..  (2008)  Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle..  Molecular cell,    (8):   [PMID:18691976]
133. Norton, J B JB and 6 more authors..  (2009)  Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques..  Neurology,    (11):   [PMID:19667325]
134. Mayya, Viveka V and 7 more authors..  (2009)  Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions..  Science signaling,    (18):   [PMID:19690332]
135. Dintchov Traykov, Latchezar L and 6 more authors..  ()  Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs..  American journal of Alzheimer's disease and other dementias,      [PMID:19797784]
136. Bruni, A C AC and 34 more authors..  (2010)  Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation..  Neurology,    (9):   [PMID:20164095]
137. Mitsuishi, Yachiyo Y and 9 more authors..  (2010)  Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex..  The Journal of biological chemistry,    (14):   [PMID:20299451]
138. Heilig, Elizabeth A EA, Xia, Weiming W, Shen, Jie J and Kelleher, Raymond J RJ..  (2010)  A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity..  The Journal of biological chemistry,    (16):   [PMID:20460383]
139. Wang, Baoxi B and 13 more authors..  (2010)  Gamma-secretase gene mutations in familial acne inversa..  Science (New York, N.Y.),    (19):   [PMID:20929727]
140. Viswanathan, Jayashree J and 15 more authors..  (2011)  Alzheimer's disease-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation..  Traffic (Copenhagen, Denmark),      [PMID:21143716]
141. Varela, Ignacio I and 43 more authors..  (2011)  Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma..  Nature,    (27):   [PMID:21248752]
142. Wu, Ya-Ying YY and 6 more authors..  (2011)  Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease..  Journal of Alzheimer's disease : JAD,      [PMID:21335660]
143. Rigbolt, Kristoffer T G KT and 9 more authors..  (2011)  System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation..  Science signaling,    (15):   [PMID:21406692]
144. Antonell, Anna A and 8 more authors..  (2011)  A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease..  Neuroscience letters,    (27):   [PMID:21501661]
145. Chau, De-Ming DM, Crump, Christina J CJ, Villa, Jennifer C JC, Scheinberg, David A DA and Li, Yue-Ming YM..  (2012)  Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase..  The Journal of biological chemistry,    (18):   [PMID:22461631]
146. Lohmann, Ebba E and 9 more authors..  (2012)  Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients..  Neurobiology of aging,      [PMID:22503161]
147. Cacquevel, Matthias M, Aeschbach, Lorène L, Houacine, Jemila J and Fraering, Patrick C PC..  (2012)  Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes..  PloS one,      [PMID:22529981]
148. Kerchner, Geoffrey A GA and Holbrook, Karen K..  (2012)  Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease..  Neuroscience letters,    (7):   [PMID:23123781]
149. Heilig, Elizabeth A EA, Gutti, Usha U, Tai, Tara T, Shen, Jie J and Kelleher, Raymond J RJ..  (2013)  Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production..  The Journal of neuroscience : the official journal of the Society for Neuroscience,    (10):   [PMID:23843529]
150. Dolzhanskaya, Natalia N and 8 more authors..  (2014)  A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease..  Journal of Alzheimer's disease : JAD,      [PMID:24121961]
151. Cornejo-Olivas, Mario R MR and 7 more authors..  (2014)  Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease..  Neuroscience letters,    (20):   [PMID:24495933]
152. Luedecke, Daniel D and 6 more authors..  (2014)  A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease..  Neuroscience letters,    (30):   [PMID:24582897]
153. Lu, Peilong P and 10 more authors..  (2014)  Three-dimensional structure of human γ-secretase..  Nature,    (14):   [PMID:25043039]
154. Chen, Wei-Ting WT and 7 more authors..  (2015)  G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation..  Molecular neurobiology,      [PMID:25394380]
155. Sun, Linfeng L and 10 more authors..  (2015)  Structural basis of human γ-secretase assembly..  Proceedings of the National Academy of Sciences of the United States of America,    (12):   [PMID:25918421]
156. Achouri-Rassas, Afef A and 11 more authors..  (2015)  Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease..  Neurobiology of aging,      [PMID:26145164]
157. Bai, Xiao-Chen XC and 8 more authors..  (2015)  An atomic structure of human γ-secretase..  Nature,    (10):   [PMID:26280335]
158. Tedde, Andrea A and 7 more authors..  (2016)  Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease..  Neuroscience letters,    (1):   [PMID:26549787]
159. Bai, Xiao-chen XC, Rajendra, Eeson E, Yang, Guanghui G, Shi, Yigong Y and Scheres, Sjors H W SH..  (2015)  Sampling the conformational space of the catalytic subunit of human γ-secretase..  eLife,    (1):   [PMID:26623517]
160. Ravenscroft, Thomas A TA and 16 more authors..  (2016)  The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida..  American journal of neurodegenerative disease,      [PMID:27073747]
161. Sun, Linfeng L, Zhou, Rui R, Yang, Guanghui G and Shi, Yigong Y..  (2017)  Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase..  Proceedings of the National Academy of Sciences of the United States of America,    (24):   [PMID:27930341]
162. Dong, Jing J and 5 more authors..  (2017)  A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation..  Journal of Alzheimer's disease : JAD,      [PMID:28269784]
163. Wang, Jen-Chyong JC and 8 more authors..  (2018)  Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation..  Neurobiology of aging,      [PMID:29175279]
164. Sutovsky, Stanislav S and 8 more authors..  (2018)  Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn..  Journal of neural transmission (Vienna, Austria : 1996),      [PMID:29404783]
165. Tiedt, Hannes O HO, Benjamin, Beate B, Niedeggen, Michael M and Lueschow, Andreas A..  (2018)  Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1..  Neuro-degenerative diseases,      [PMID:29466804]
166. Giau, Vo Van VV and 5 more authors..  (2018)  Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism..  Neurobiology of aging,      [PMID:30180983]
167. Bagyinszky, Eva E and 6 more authors..  (2018)  PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease..  International journal of molecular sciences,    (2):   [PMID:30200536]
168. Zhou, Rui R and 5 more authors..  (2019)  Recognition of the amyloid precursor protein by human γ-secretase..  Science (New York, N.Y.),    (15):   [PMID:30630874]

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