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searching for Presenilin-1 57 found (67 total)

alternate case: presenilin-1

Early-onset Alzheimer's disease (3,621 words) [view diff] no match in snippet view article find links to article

in one of at least three genes, which code for presenilin 1, presenilin 2, and APP. The presenilin 1 gene (PSEN1 located on chromosome 14) was identified
Presenilin (2,110 words) [view diff] no match in snippet view article find links to article
genes, called PSEN1 (located on chromosome 14 in humans) that codes for presenilin 1 (PS-1) and PSEN2 (on chromosome 1 in humans) that codes for presenilin
MTCH1 (1,039 words) [view diff] no match in snippet view article find links to article
Mitochondrial carrier homolog 1 (MTCH1), also referred to as presenilin 1-associated protein (PSAP), is a protein that in humans is encoded by the MTCH1
Δ-Catenin (359 words) [view diff] no match in snippet view article find links to article
synapse formation involves uncoupling of p120-catenin and association with presenilin 1". Mol. Cell. Neurosci. 30 (4): 611–23. doi:10.1016/j.mcn.2005.06.005
Caspase 6 (1,629 words) [view diff] exact match in snippet view article find links to article
P (1999). "Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1
Alzheimer's disease in the Hispanic/Latino population (6,149 words) [view diff] no match in snippet view article find links to article
mutations in the amyloid precursor protein (APP), Apolipoprotein E APOE), presenilin 1 (PSEN1), bridging Integrator 1 (BIN1), SORL1, and Clusterin (CLU) genes
Karen Duff (360 words) [view diff] no match in snippet view article find links to article
in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes". Nat Med. 4 (1): 97–100. doi:10.1038/nm0198-097. PMID 9427614
Α5IA (275 words) [view diff] exact match in snippet view article find links to article
human β-amyloid precursor protein (with the Swedish mutation) and human presenilin-1 (with a Δ exon 9 mutation). GABAA receptor negative allosteric modulator
SFRS2IP (487 words) [view diff] exact match in snippet view article find links to article
et al. (1999). "Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1
Bart De Strooper (622 words) [view diff] exact match in snippet view article find links to article
; Annaert, W.; von Figura, K.; Van Leuven, F. (1998). "Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein". Nature. 391
Intramembrane protease (1,287 words) [view diff] exact match in snippet view article find links to article
Kimberly, WT; Selkoe, DJ (8 April 1999). "Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity"
CDK5R1 (1,381 words) [view diff] exact match in snippet view article find links to article
"p35/cdk5 binds and phosphorylates beta-catenin and regulates beta-catenin/presenilin-1 interaction". Eur. J. Neurosci. 13 (2): 241–7. doi:10.1046/j.1460-9568
Auguste Deter (1,610 words) [view diff] no match in snippet view article find links to article
S2CID 19738355. Müller, Ulrich; Winter, Pia; Graeber, Manuel B (2013). "A presenilin 1 mutation in the first case of Alzheimer's disease". The Lancet Neurology
PSEN2 (1,100 words) [view diff] exact match in snippet view article find links to article
P, Ganjei JK, D'Adamio L (August 1999). "Interaction of Alzheimer's presenilin-1 and presenilin-2 with Bcl-X(L). A potential role in modulating the threshold
Subcommissural organ (3,545 words) [view diff] exact match in snippet view article find links to article
in a dose-dependent manner and that the conditional inactivation of presenilin-1 or the lack of huntingtin in wnt cell lineages leads to congenital hydrocephalus
Plakophilin-4 (1,333 words) [view diff] no match in snippet view article find links to article
TC (April 1999). "Direct interaction of Alzheimer's disease-related presenilin 1 with armadillo protein p0071". J. Biol. Chem. 274 (14): 9141–8. doi:10
Chromosome 14 (1,831 words) [view diff] no match in snippet view article find links to article
encoding protein Pleckstrin homology and rhogef domain containing g3 PSEN1: presenilin 1 (Alzheimer disease 3) RIOX1: encoding protein RIOX1 RTRAF: encoding protein
Genetic heterogeneity (1,248 words) [view diff] no match in snippet view article find links to article
mutations in three genes that encode the amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2) that cause the autosomal dominant, early-onset
Catenin beta-1 (12,345 words) [view diff] no match in snippet view article find links to article
(December 1998). "Abrogation of the presenilin 1/beta-catenin interaction and preservation of the heterodimeric presenilin 1 complex following caspase activation"
Posterior cortical atrophy (2,030 words) [view diff] no match in snippet view article find links to article
syndrome. In addition, PCA may result in part from mutations in the presenilin 1 gene (PSEN1). The cause of PCA is unknown, and there are no fully accepted
CDH3 (gene) (1,422 words) [view diff] no match in snippet view article
K, Gosau M, Reinders J, Oefner P, Reichert TE, Bauer R (Nov 2013). "Presenilin 1/γ-secretase modulates P-cadherin processing and influences cell adhesion
ETS2 (1,420 words) [view diff] exact match in snippet view article find links to article
Pastorcic M, Das HK (Nov 2000). "Regulation of transcription of the human presenilin-1 gene by ets transcription factors and the p53 protooncogene". The Journal
Notch 2 (1,612 words) [view diff] exact match in snippet view article find links to article
Hyman BT (1998). "Notch is expressed in adult brain, is coexpressed with presenilin-1, and is altered in Alzheimer disease". J. Neuropathol. Exp. Neurol. 57
Susumu Tonegawa (1,595 words) [view diff] exact match in snippet view article find links to article
, Selkoe, D. J., & Tonegawa, S. (1997). Skeletal and CNS defects in Presenilin-1-deficient mice. Cell, 89(4), 629-639. Nakazawa, K., Quirk, M. C., Chitwood
Nicastrin (901 words) [view diff] exact match in snippet view article find links to article
disease-associated peptide amyloid beta. The other proteins in the complex are PSEN1 (presenilin-1), which is the catalytically active component of the complex, APH-1 (anterior
Neuroepithelial cell (2,122 words) [view diff] no match in snippet view article find links to article
neurogenesis. The genes associated with these diseases like α-synuclein, presenilin 1, MAPT (microtubule associated protein tau) and huntingtin are also often
Crenezumab (1,301 words) [view diff] exact match in snippet view article find links to article
one-third of the 5,000 family members carry an autosomal dominant allele of presenilin-1 (PSEN1) that causes the early-onset form of Alzheimer's disease. The
Biochemistry of Alzheimer's disease (7,749 words) [view diff] no match in snippet view article find links to article
S2CID 31985212. Borchelt DR (January 1998). "Metabolism of presenilin 1: influence of presenilin 1 on amyloid precursor protein processing". Neurobiology
Cre-Lox recombination (5,058 words) [view diff] exact match in snippet view article find links to article
Xia W, Selkoe DJ, Tonegawa S (May 1997). "Skeletal and CNS defects in Presenilin-1-deficient mice". Cell. 89 (4): 629–39. doi:10.1016/s0092-8674(00)80244-5
Ceramide synthase 4 (489 words) [view diff] no match in snippet view article find links to article
Dasgupta S, Bieberich E (2008). "Long-chain ceramide is elevated in presenilin 1 (PS1M146V) mouse brain and induces apoptosis in PS1 astrocytes". Glia
APBA2 (1,237 words) [view diff] exact match in snippet view article find links to article
Standen C, Miller CC (2001). "X11 alpha and x11 beta interact with presenilin-1 via their PDZ domains". Mol. Cell. Neurosci. 16 (5): 557–65. doi:10.1006/mcne
YME1L1 (989 words) [view diff] exact match in snippet view article find links to article
novel putative metalloproteases interacting with the COOH-terminus of Presenilin-1 and -2". Journal of Alzheimer's Disease. 3 (2): 181–190. doi:10.3233/jad-2001-3203
HM13 (1,137 words) [view diff] no match in snippet view article find links to article
endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein". FEBS Lett. 557 (1–3): 185–92. doi:10.1016/S0014-5793(03)01489-3
FBXW7 (1,515 words) [view diff] no match in snippet view article find links to article
JR, Yan R, Buhl AE, Ruble C, Gurney ME (2002). "SEL-10 interacts with presenilin 1, facilitates its ubiquitination, and alters A-beta peptide production"
Joe Z. Tsien (2,946 words) [view diff] exact match in snippet view article find links to article
Tsien is also the first to show that defective Alzheimer's genes (e.g. presenilin-1) impaired adult neurogenesis in the dentate gyrus of the hippocampus
PARL (1,095 words) [view diff] exact match in snippet view article find links to article
novel putative metalloproteases interacting with the COOH-terminus of Presenilin-1 and -2". Journal of Alzheimer's Disease. 3 (2): 181–190. doi:10.3233/jad-2001-3203
APH-1 (406 words) [view diff] no match in snippet view article find links to article
2003). "PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1". The Journal of Biological Chemistry. 278 (10): 7850–4. doi:10.1074/jbc
APBA1 (1,386 words) [view diff] exact match in snippet view article find links to article
Standen C, Miller CC (2001). "X11 alpha and x11 beta interact with presenilin-1 via their PDZ domains". Mol. Cell. Neurosci. 16 (5): 557–65. doi:10.1006/mcne
TCF7L2 (4,358 words) [view diff] no match in snippet view article find links to article
Murayama O, Iwasaki K, Fujiwara M, Takashima A, et al. (October 2001). "Presenilin 1 regulates beta-catenin-mediated transcription in a glycogen synthase
Rudolph E. Tanzi (4,371 words) [view diff] no match in snippet view article find links to article
Hyslop and Jerry Schellenberg to discover the two other EO-FAD genes, presenilin 1 and 2 (PSEN1 and PSEN2). He has published many key studies characterizing
Bcl-2 (4,646 words) [view diff] no match in snippet view article find links to article
Frisoni GB, Trabucchi M, Growdon JH, Nitsch RM, Binetti G (October 1999). "Presenilin 1 protein directly interacts with Bcl-2". The Journal of Biological Chemistry
ERN1 (1,889 words) [view diff] exact match in snippet view article find links to article
Imaizumi K, Sato N, Miyoshi K, Kudo T, Hitomi J, et al. (December 1999). "Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein
P120 catenin (2,053 words) [view diff] no match in snippet view article find links to article
"Isolation of human delta-catenin and its binding specificity with presenilin 1". NeuroReport. 10 (3): 563–8. doi:10.1097/00001756-199902250-00022. PMID 10208590
Bcl-2-like protein 1 (2,223 words) [view diff] exact match in snippet view article find links to article
Vito P, Ganjei JK, D'Adamio L (Aug 1999). "Interaction of Alzheimer's presenilin-1 and presenilin-2 with Bcl-X(L). A potential role in modulating the threshold
EP300 (4,234 words) [view diff] exact match in snippet view article find links to article
M, Das HK (November 2000). "Regulation of transcription of the human presenilin-1 gene by ets transcription factors and the p53 protooncogene". J. Biol
P3 peptide (1,340 words) [view diff] no match in snippet view article find links to article
(2011). "Attenuation of neurodegenerative phenotypes in Alzheimer-like presenilin 1/presenilin 2 conditional double knockout mice by EUK1001, a promising
CREB-binding protein (5,270 words) [view diff] no match in snippet view article find links to article
plaques. CBP activity is decreased in the absence of these proteins (presenilin 1 or presenilin 2). Additionally, in mouse models of AD, it has been shown
Alzheimer's disease (18,887 words) [view diff] no match in snippet view article find links to article
Ratovitsky T, et al. (November 1996). "Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo". Neuron.
Alison Goate (1,290 words) [view diff] exact match in snippet view article find links to article
Cited by 5017 as of October 18, 2019. De Strooper, B.; et al. (1999). "A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular
P53 (13,103 words) [view diff] exact match in snippet view article find links to article
M, Das HK (November 2000). "Regulation of transcription of the human presenilin-1 gene by ets transcription factors and the p53 protooncogene". The Journal
George M. Martin (2,090 words) [view diff] exact match in snippet view article find links to article
(March 1999). "Increased vulnerability of hippocampal neurons from presenilin-1 mutant knock-in mice to amyloid beta-peptide toxicity: central roles
Alpha-synuclein (9,450 words) [view diff] exact match in snippet view article find links to article
beta-amyloid pathology of familial Alzheimer's disease with the E184D presenilin-1 mutation: a clinicopathological study of two autopsy cases". Acta Neuropathologica
CRISPR gene editing (17,439 words) [view diff] no match in snippet view article find links to article
humans has been identified, specifically amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). Over 300 mutations have ben detected
Reelin (15,715 words) [view diff] exact match in snippet view article find links to article
(December 2001). "Reelin in plaques of beta-amyloid precursor protein and presenilin-1 double-transgenic mice". Neuroscience Letters. 316 (3): 145–8. doi:10
Alzheimer's disease in African Americans (4,450 words) [view diff] no match in snippet view article find links to article
amyloid beta 42 to amyloid beta 40 ratio is a sign of disease progression. Presenilin 1 (PS1) and Presenilin 2 (PS2) are the cleaving enzymes in the γ-secretase
Julie C. Price (2,918 words) [view diff] exact match in snippet view article find links to article
Judith A. (June 6, 2007). "Amyloid Deposition Begins in the Striatum of Presenilin-1 Mutation Carriers from Two Unrelated Pedigrees". Journal of Neuroscience
Epigenetics of neurodegenerative diseases (13,392 words) [view diff] no match in snippet view article find links to article
with immune response. Hypomethylation has been observed in promoters of presenilin 1, GSK3beta, which phosphorylates tau protein, and BACE1, an enzyme that