Presenilin

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Annaert, W. G., et al. (2001). Interaction with Telencephalin and the Amyloid precursor protein predicts a ring structure for Presenilins. Neuron 32: 579-589. 11719200

Berezovska, O., Xia, M. Q. and Hyman, B. T. (1998). Notch is expressed in adult brain, is coexpressed with presenilin-1, and is altered in Alzheimer disease. J. Neuropathol. Exp. Neurol. 57(8): 738-45.

Berezovska, O., et al. (1999). The alzheimer-related gene presenilin 1 facilitates notch 1 in primary mammalian neurons. Brain Res. Mol. Brain Res. 69(2): 273-80.

Boulianne, G. L., et al. (1997). Cloning and characterization of the Drosophila presenilin homologue. Neuroreport 8(4): 1025-9.

Buxbaum, J. D., et al. (1998). Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment. Nat. Med. 4(10): 1177-81. 98442695

Capell, A., et al. (1998). The proteolytic fragments of the Alzheimer's disease-associated presenilin-1 form heterodimers and occur as a 100-150-kDa molecular mass complex. J. Biol. Chem. 273: 3205-3211. 9452432

Chan, Y.-M. and Jan, Y. N. (1999). Presenilins, processing of ß-Amyloid precursor protein, and notch signaling. Neuron 23: 201-204.

Chen, F., et al. (2001). Nicastrin binds to membrane-tethered Notch. Nat. Cell Biol. 3: 751-755. 11483961

Cheng, H.-T., et al. (2003). gamma-Secretase activity is dispensable for mesenchyme-to-epithelium transition but required for podocyte and proximal tubule formation in developing mouse kidney. Development 130: 5031-5042. 12952904

Chung, H. M. and Struhl, G. (2001). Nicastrin is required for Presenilin-mediated transmembrane cleavage in Drosophila. Nat. Cell Biol. 3(12): 1129-32. 11781576

Cinar, H. N., et al. (2001). The SEL-12 presenilin mediates induction of the Caenorhabditis elegans uterine pi cell fate. Dev. Bio. 237: 173-182. 11518514

Coolen, M. W., et al. (2005). Gene dosage effect on gamma-secretase component Aph-1b in a rat model for neurodevelopmental disorders. Neuron 45(4): 497-503. 15721236

Cox, R. T., et al. (2000). A screen for mutations that suppress the phenotype of Drosophila armadillo, the ß-catenin homolog. Genetics 155: 1725-1740.

De Strooper, B., et al. (1998). Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature 391(6665): 387-90.

De Strooper, B., et al. (1999). A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain. Nature 398(6727): 518-22.

Donoviel, B. D., et al. (1999). Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 13: 2801-2810.

Edbauer, D., Winkler, E., Haass, C. and Steiner, H. (2002). Presenilin and nicastrin regulate each other and determine amyloid -peptide production via complex formation. Proc. Natl Acad. Sci. 99: 8666-8671. 12048259

Edbauer, D., Kaether, C., Steiner, H. and Haass, C. (2005). Co-expression of nicastrin and presenilin rescues a loss of function mutant of APH-1. J. Biol. Chem. 279(36): 37311-5. 15210705

Eimer, S., Lakowski, B., Donhauser, R. and Baumeister, R. (2002a). Loss of spr-5 bypasses the requirement for the C. elegans presenilin sel-12 by derepressing hop-1. EMBO J. 21: 5787-5796. 12411496

Eimer, S., Donhauser, R. and Baumeister, R. (2002b). The Caenorhabditis elegans Presenilin sel-12 is required for mesodermal patterning and muscle function. Dev. Bio. 251: 178-192. 12413907

Feng, R., et al. (2001). Deficient neurogenesis in forebrain-specific Presenilin-1 knockout mice is associated with reduced clearance of hippocampal memory traces. Neuron 32: 911-926. 11738035

Francis, R., et al. (2002). aph-1 and pen-2 are required for Notch pathway signaling, gamma-Secretase cleavage of ßAPP, and Presenilin protein accumulation. Dev. Cell 3: 85-97. 12110170

Gao, Y. and Pimplikar, S. W. (2001). The gamma-secretase-cleaved C-terminal fragment of amyloid precursor protein mediates signaling to the nucleus. Proc. Natl. Acad. Sci. 98: 14979-14984. 11742091

Goutte, C., et al. (2000). aph-2 encodes a novel extracellular protein required for GLP-1-mediated signaling. Development 127(11): 2481-92. 10804188

Gu, Y., et al. (2003). APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin-nicastrin complexes. J. Biol. Chem. 278: 7374-7380. 12471034

Guo, Q., Robinson, N. and Mattson, M. P. (1998). Secreted beta-amyloid precursor protein counteracts the proapoptotic action of mutant presenilin-1 by activation of NF-kappaB and stabilization of calcium homeostasis. J. Biol. Chem. 273(20): 12341-51.

Guo, Y., et al. (1999). Drosophila presenilin is required for neuronal differentiation and affects Notch subcellular localization and signaling. J. Neurosci. 19(19): 8435-8442.

Gupta-Rossi, N., et al. (2004). Monoubiquitination and endocytosis direct gamma-secretase cleavage of activated Notch receptor. J. Cell Biol. 166(1): 73-83. 15240571

Handler, M., Yang, X. and Shen, J. (2000). Presenilin-1 regulates neuronal differentiation during neurogenesis. Development 127: 2593-2606.

Herranz, H., Stamataki, E., Feiguin, F. and Milan, M. (2006). Self-refinement of Notch activity through the transmembrane protein Crumbs: modulation of gamma-secretase activity. EMBO Rep. 7(3): 297-302. Medline abstract: 16440003

Hong, C. S. and Koo, E. H. (1997). Isolation and characterization of Drosophila presenilin homolog. Neuroreport 8(3): 665-8.

Hitoshi, S., et al. (2002). Notch pathway molecules are essential for the maintenance, but not the generation, of mammalian neural stem cells. Genes Dev. 16: 846-858. 11937492

Hu, Y., Ye, Y. and Fortini, M. E. (2002). Nicastrin is required for gamma-secretase cleavage of the Drosophila Notch receptor. Dev. Cell 2: 69-78. 11782315

Huppert, S. S., Ilagan, M. X., De Strooper, B. and Kopan, R. (2005). Analysis of Notch function in presomitic mesoderm suggests a gamma-secretase-independent role for presenilins in somite differentiation. Dev. Cell 8(5): 677-88. 15866159

Ikeuchi, T. and Sisodia, S. S. (2003). The Notch ligands, Delta1 and Jagged2, are substrates for presenilin-dependent 'gamma-secretase' cleavage. J. Biol. Chem. 278(10): 7751-4. 12551931

Jarriault, S. and Greenwald, I. (2002). Suppressors of the egg-laying defective phenotype of sel-12 presenilin mutants implicate the CoREST corepressor complex in LIN-12/Notch signaling in C. elegans Genes Dev. 16: 2713-2728. 12381669

Kang, D. E., et al. (2002). Presenilin couples the paired phosphorylation of ß-Catenin independent of Axin: Implications for ß-Catenin activation in tumorigenesis. Cell 110: 751-762. 12297048

Katayama, T., et al. (1999). Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response. Nat. Cell Biol. 1: 479-485

Kidd, S., Lieber, T. and Young, M. W. (1998). Ligand-induced cleavage and regulation of nuclear entry of Notch in Drosophila melanogaster embryos. Genes Dev. 23: 3728-3740.

Kim, J. W., et al. (2001). Negative Regulation of the SAPK/JNK Signaling Pathway by Presenilin. J. Cell Bio. 153: 457-464. 11331298

Kim, S. H. and Sisodia, S. S. (2005). Evidence that the "NF" motif in transmembrane domain 4 of presenilin 1 is critical for binding with PEN-2. J. Biol. Chem. 280(51): 41953-66. 16234243

Klein, T., et al. (2003). The tumor suppressor gene l(2)giant discs is required to restrict the activity of Notch to the dorsoventral boundary during Drosophila wing development. Dev. Bio. 255: 313-333. 12648493

Koizumi, K-i., et al. (2001). The role of presenilin 1 during somite segmentation Development 128: 1391-1402. 11262239

Lakowski, B., et al. (2003). Two suppressors of sel-12 encode C₂H₂ zinc-finger proteins that regulate presenilin transcription in Caenorhabditis elegans. Development 130: 2117-2128. 12668626

LaVoie, M. J. and Selkoe, D. J. (2003). The Notch ligands, Jagged and Delta, are sequentially processed by alpha-secretase and presenilin/gamma-secretase and release signaling fragments. J. Biol. Chem. 278(36): 34427-37. 12826675

Lecourtois, M. and Schweisguth, F. (1998). Indirect evidence for Delta-dependent intracellular processing of Notch in Drosophila embryos. Curr. Biol. 8(13): 771-4.

Lee, S. F., et al. (2002). Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid- precursor protein and notch. J. Biol. Chem. 277: 45013-45019. 12297508

Levesque, G., et al. (1999). Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin. J. Neurochem. 72(3): 999-1008.

Levitan, D. and Greenwald, I. (1995). Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377(6547): 351-4.

Levitan, D. and Greenwald, I. (1998). Effects of SEL-12 presenilin on LIN-12 localization and function in Caenorhabditis elegans. Development 125(18): 3599-3606.

Levitan, D., et al. (2001). APH-2/Nicastrin functions in LIN-12/Notch signaling in the Caenorhabditis elegans somatic gonad. Dev. Biol. 240(2): 654-61. 11784090

Li, J., et al. (1997). Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell 90(5): 917-27.

Li, X. and Greenwald, I. (1997). HOP-1, a Caenorhabditis elegans presenilin, appears to be functionally redundant with SEL-12 presenilin and to facilitate LIN-12 and GLP-1 signaling. Proc. Natl. Acad. Sci. 94(22): 12204-12209.

Li, X. and Greenwald, I. (1998). Additional evidence for an eight-transmembrane-domain topology for Caenorhabditis elegans and human presenilins. Proc. Natl. Acad. Sci. 95(12): 7109-14.

Logeat, F., et al. (1998). The Notch1 receptor is cleaved constitutively by a furin-like convertase. Proc. Natl. Acad. Sci. 95(14): 8108-8112

López-Schier, H. and St Johnston, D. (2002). Drosophila Nicastrin is essential for the intramembranous cleavage of Notch. Dev. Cell 2: 79-89. 11782316

Louvi, A., Sisodia, S. S. and Grove, E. A. (2004). Presenilin 1 in migration and morphogenesis in the central nervous system. Development 131: 3093-3105. 15163631

Lukinova, N. I., Roussakova, V. V. and Fortini, M. E. (1999). Genetic characterization of cytological region 77A-D harboring the Presenilin gene of Drosophila melanogaster. Genetics 153: 1789-1797.

Mah, A. L., et al. (2000). Identification of Ubiquilin, a novel Presenilin interactor that increases Presenilin protein accumulation. J. of Cell Bio. 151: 847-862. 11076969

Marambaud, P., et al. (1998). Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome. Biochem. Biophys. Res. Commun. 252(1): 134-8.

Marambaud, P., et al. (2002). A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions EMBO J. 21: 1948-1956. 11953314

Marfany, G., et al. (1998). Identification of a Drosophila presenilin homologue: evidence of alternatively spliced forms. J. Neurogenet. 12(1): 41-54.

Mizutani, T., et al. (2001). Conservation of the biochemical mechanisms of signal transduction among mammalian Notch family members. Proc. Natl. Acad. Sci. 98: 9026-9031. 11459941

Morohashi, Y., et al. (2002). Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4. J. Biol. Chem. 277: 14965-14975. 11847232

Murayama, M., et al. (1998). Direct association of presenilin-1 with beta-catenin. FEBS Lett. 433(1-2): 73-7. 98409316

Nakajima, M., et al. (2003). Abnormal blood vessel development in mice lacking presenilin-1. Mech. Dev. 120: 657-667. 12834865

Nishimura, M., et al. (1999). Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nat. Med. 5(2): 164-9.

Niwa, M., et al. (1999). A role for Presenilin-1 in nuclear accumulation of Ire1 fragments and induction of the mammalian unfolded protein response. Cell 99: 691-702.

Noll, E., et al. (2000). Presenilin affects Arm/beta-Catenin localization and function in Drosophila. Dev. Bio. 227: 450-464.

Okochi, M., et al. (2002). Presenilins mediate a dual intramembranous gamma-secretase cleavage of Notch-1. EMBO J. 21: 5408-5416. 12374741

Paganelli, A. R., et al. (2001). The Alzheimer-related gene presenilin-1 facilitates sonic hedgehog expression in Xenopus primary neurogenesis. Mech. Dev. 107: 119-131. 11520668

Pan, Y., et al. (2004). γ-secretase functions through Notch signaling to maintain skin appendages but is not required for their patterning or initial morphogenesis. Dev. Cell 7: 731-743. 15525534

Pardossi-Piquard, R., et al. (2005). Presenilin-dependent transcriptional control of the Aß-degrading enzyme Neprilysin by intracellular domains of ßAPP and APLP. Neuron 46: 541-554. 15944124

Phiel, C. J., et al. (2003). GSK-3alpha regulates production of Alzheimer's disease amyloid-ß peptides. Nature 423(6938): 435-9. 12761548

Ratovitski, T., et al. (1997). Endoproteolytic processing and stabilization of wild-type and mutant presenilin. J. Biol. Chem. 272: 24536-24541. 9305918

Ray, W. J., et al. (1999a). Evidence for a physical interaction between presenilin and Notch. Proc. Natl. Acad. Sci. 96(6): 3263-8.

Ray. W. J., et al. (1999b). Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch. J. Biol. Chem. 274(51): 36801-7.

Roncarati, R., et al. (2002). The gamma-secretase-generated intracellular domain of beta-amyloid precursor protein binds Numb and inhibits Notch signaling. Proc. Natl. Acad. Sci. 99: 7102-7107. 12011466

Seiffert, D., et al. (2000). Presenilin-1 and -2 are molecular targets for gamma-secretase inhibitors. J. Biol. Chem. 275: 34086-34091. 10915801

Siman, R. and Salidas, S. (2004). Gamma-secretase subunit composition and distribution in the presenilin wild-type and mutant mouse brain. Neuroscience 129(3): 615-28. 15541883

Saura, C. A., et al. (2004). Loss of Presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron 42: 23-36. 15066262

Schroeter, E. H., Kisslinger, J. A. and Kopan, R. (1998). Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain. Nature 393: 382-386.

Seidner, G. A., et al. (2006). Modeling clinically heterogeneous Presenilin mutations with transgenic Drosophila. Curr. Biol. 16: 1026-1033. 16713961

Shinozaki, K., et al. (1998). The presenilin 2 loop domain interacts with the mu-calpain C-terminal region. Int. J. Mol. Med. 1(5): 797-9.

Shirotani, K., et al. (2004). Identification of distinct gamma-secretase complexes with different APH-1 variants. J. Biol. Chem. 279(40): 41340-5. 15286082

Song, W., et al. (1999). Proteolytic release and nuclear translocation of notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations. Proc. Natl. Acad. Sci. 96(12): 6959-63.

Stabler, S. M., et al. (1999). A Myristoylated Calcium-binding Protein that Preferentially Interacts with the Alzheimer's Disease Presenilin 2 Protein. J. Cell Biol. 145: 1277-1292.

Stahl, B., Diehlmann, A. and Sudhof, T. C. (1999). Direct interaction of Alzheimer's disease-related presenilin 1 with armadillo protein p0071. J Biol Chem 274(14): 9141-8.

Steiner, H., et al. (2002). PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin. J. Biol. Chem. 277: 39062-39065. 12198112

Struhl, G. and Adachi, A. (1998). Nuclear access and action of notch in vivo. Cell 93(4): 649-660.

Struhl, G. and Greenwald, I. (1999). Presenilin is required for activity and nuclear access of Notch in Drosophila. Nature 398(6727): 522-5.

Struhl, G. and Adachi, A. (2000). Requirements for Presenilin-dependent cleavage of Notch and other transmembrane proteins. Molec. Cell 6: 625-636. 11030342

Struhl, G. and Greenwald, I., (2001). Presenilin-mediated transmembrane cleavage is required for Notch signal transduction in Drosophila. Proc. Natl. Acad. Sci. 98: 229-234. 11134525

Sudoh, S., et al. (1998). 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. 71(4): 1535-43.

Takasugi, N., et al. (2002). The mechanism of gamma-secretase activities through high molecular weight complex formation of presenilins is conserved in Drosophila melanogaster and mammals. J. Biol. Chem. 277: 50198-50205. 12388554

Takahashi, Y., et al. (2003). Feedback loops comprising Dll1, Dll3 and Mesp2, and differential involvement of Psen1 are essential for rostrocaudal patterning of somites. Development 130: 4259-4268. 12900443

Takasugi, N., et al. (2003). The role of presenilin cofactors in the gamma-secretase complex. Nature 422: 438-441. 12660785

Tanahashi, H. and Tabira, T. (1999). Isolation of human delta-catenin and its binding specificity with presenilin 1. Neuroreport 10(3): 563-8.

Thinakaran, G., et al. (1997). Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors. J. Biol. Chem. 272: 28415-28422. 9353300

Toma, D. P., White, K. P., Hirsch, J. and Greenspan, R. J. (2002). Identification of genes involved in Drosophila melanogaster geotaxis, a complex behavioral trait. Nat. Genet. 31(4): 349-53. 12042820

Tomita, T., et al. (2001). The first proline of PALP motif at the C terminus of presenilins is obligatory for stabilization, complex formation and gamma-secretase activities of presenilins. J. Biol. Chem. 276: 33273-33281. 11432849

Watanabe, N., et al. (2005). Pen-2 is incorporated into the gamma-secretase complex through binding to transmembrane domain 4 of presenilin 1. J. Biol. Chem. 280(51): 41967-75. 16234244

Wen, P. H., et al. (2005). Selective expression of presenilin 1 in neural progenitor cells rescues the cerebral hemorrhages and cortical lamination defects in presenilin 1-null mutant mice. Development 132(17): 3873-83. 16079160

Westlund, B., et al. (1999). Reverse genetic analysis of Caenorhabditis elegans presenilins reveals redundant but unequal roles for sel-12 and hop-1 in Notch-pathway signaling. Proc. Natl. Acad. Sci. 96(5): 2497-2502.

Wines-Samuelson, M., Handler, M. and Shen, J. (2005). Role of presenilin-1 in cortical lamination and survival of Cajal-Retzius neurons. Dev. Biol. 277(2): 332-46. 15617678

Wittenburg, N., et al. (2000). Presenilin is required for proper morphology and function of neurons in C. elegans. Nature 406(6793): 306-9.

Wolfe, M. S., et al. (1999). Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity. Nature 398(6727): 513-7.

Xia, W., et al. (1998). Presenilin 1 regulates the processing of beta-amyloid precursor protein C-terminal fragments and the generation of amyloid beta-protein in endoplasmic reticulum and Golgi. Biochemistry 37(47): 16465-71.

Ye, Y. and Fortini, M. E. (1998). Characterization of Drosophila Presenilin and its colocalization with Notch during development. Mech. Dev. 79(1-2): 199-211.

Ye, Y., Lukinova, N. and Fortini, M. E. (1999). Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants. Nature 398(6727): 525-9.

Ye, Y. and and Fortini, M. E. (1999). Apoptotic activities of wild-type and Alzheimer's disease-related mutant Presenilins in Drosophila melanogaster. J. Cell Biol. 146: 1351-1364.

Yoo, A. S., et al. (2000). Presenilin-mediated modulation of capacitative calcium entry. Neuron 27: 561-572.

Yu G., et al. (1998). The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin. J. Biol. Chem. 273(26): 16470-5. 98298167

Yu, G., et al. (2000). Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and APP processing. Nature 407: 48-54.

Yu, H., et al. (2001). APP processing and synaptic plasticity in Presenilin-1 conditional knockout mice. Neuron 31: 713-726. 11567612

Zhang, J., et al. (1998). Subcellular distribution and turnover of presenilins in transfected cells. J. Biol. Chem. 273(20): 12436-42.

Zhang, Z., et al. (1998). Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis. Nature 395(6703): 698-702.

Zhou, J., et al. (1997). Presenilin 1 interaction in the brain with a novel member of the Armadillo family. Neuroreport 8(8): 2085-90.

Zhou, S., et al. (2005). CD147 is a regulatory subunit of the gamma-secretase complex in Alzheimer's disease amyloid beta- peptide production. Proc. Natl. Acad. Sci. 102: 7499-7504. Medline abstract: 15890777

date revised: 15 August 2007

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