Sequence analyses of presenilin mutations linked to familial Alzheimer's disease

Cell Stress and Chaperones

Volumn 13, Issue 4, 2008, Pages 401-412

  Sun, Don Kim ^a   Kim, Jinoh ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Alzheimer's disease; Presenilin mutations; Protein misfolding; Sequence analyses

Indexed keywords

AMYLOID BETA PROTEIN; GAMMA SECRETASE; PRESENILIN;

ALZHEIMER DISEASE; BIOINFORMATICS; ENZYME ACTIVITY; FAMILIAL DISEASE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SHORT SURVEY; AMINO ACID SEQUENCE; CHEMISTRY; DNA SEQUENCE; GENETICS; MOLECULAR GENETICS; MUTATION; REVIEW;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; CONSERVED SEQUENCE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PRESENILINS; PROTEIN FOLDING; SEQUENCE ANALYSIS, DNA;

EID: 59649091790     PISSN: 13558145     EISSN: 14661268     Source Type: Journal    
DOI: 10.1007/s12192-008-0046-0     Document Type: Short Survey

References (54)

1. Baki L, Shioi J, Wen P, Shao Z, Schwarzman A, Gama-Sosa M, Neve R, Robakis NK (2004) PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutation. EMBO J 23:2586-2596 (Pubitemid 38988230)
2. Bentahir M, Nyabi O, Verhamme J, Tolia A, Horre K, Wiltfang J, Esselmann H, De Strooper B (2006) Presenilin clinical mutations can affect γ-secretase activity by different mechanisms. J Neurochem 96:732-742
3. Berezovska O, Lleo A, Herl LD, Frosch MP, Stern EA, Bacskai BJ, Hyman BT (2005) Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein. J Neurosci 25:3009-3017 (Pubitemid 40389259)
4. Brown CR, Hong-Brown LQ, Biwersi J, Verkman AS, Welch WJ (1996) Chemical chaperones correct the mutant phenotype of the ΔF508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones 1:117-125 (Pubitemid 126670773)
5. Brown CR, Hong-Brown LQ, Welch WJ (1997) Strategies for correcting the delta F508 CFTR protein-folding defect. J Bioenerg Biomembr 29:491-502 (Pubitemid 28110493)
6. Brunham LR, Singaraja RR, Pape TD, Kejariwal A, Thomas PD, Hayden MR (2005) Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. PLOS Genet 1:739-747
7. Buckner RL (2004) Memory and executive function in aging and AD: multiple factors that cause decline and reserve factors that compensate. Neuron 44:195-208 (Pubitemid 39348840)
8. Chen F, Hasegawa H, Schmitt-Ulms G, Kawarai T, Bohm C, Katayama T, Sanjo N, Glista M, Rogaeva E, Wakutani Y, Pardossi-Piquard R, Ruan X, Tandon A, Checler F, Marambaud P, Hansen K, Westaway D, St. George-Hyslop P, Fraser P (2006) TMP21 is a presenilin complex component that modulates γ-secretase but not ε-secretase activity. Nature 440:1208-1212
9. De Strooper B (2007) Loss-of-function presenilin mutations in Alzheimer disease. EMBO Reports 8:141-146
10. Fraering PC, Ye W, LaVoie MJ, Ostaszewski BL, Selkoe DJ, Wolfe MS (2005) γ-Secretase substrate selectivity can be modulated directly via interaction with a nucleotide-binding site. J Biol Chem 280:41987-41996 (Pubitemid 43023167)
11. Gelman MS, Kopito RR (2002) Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis. J Clin Invest 110:1591-1597 (Pubitemid 35424234)
12. Grantham R (1974) Amino acid difference formula to help explain protein evolution. Science 185:862-864
13. Haass C, Selkoe DJ (2007) Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid β-peptide. Nat Rev Mol Cell Biol 8:101-112 (Pubitemid 46432529)
14. Joerger AC, Fersht AR (2007) Structure-function-rescue: the diverse nature of common p53 cancer mutants. Oncogene 26:2226-2242 (Pubitemid 46536643)
15. Khandelwal A, Chandu D, Roe CM, Kopan R, Quatrano RS (2007) Moonlighting activity of presenilin in plants is independent of γ-secretase and evolutionarily conserved. Proc Natl Acad Sci USA 104:13337-13342 (Pubitemid 47293946)
16. Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R, Ishioka C (2003) Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc Natl Acad Sci USA 100:8424-8429 (Pubitemid 36842561)
17. Kim S-H, Lah JJ, Thinakaran G, Levey A, Sisodia SS (2000) Subcellular localization of presenilins: association with a unique membrane pool in cultured cells. Neurobiol Dis 7:99-117 (Pubitemid 30241206)
18. Kim J, Kleizen B, Choy R, Thinakaran G, Sisodia SS, Schekman R (2007) Biogenesis of γ-secretase early in the secretory pathway. J Cell Biol 179:951-963 (Pubitemid 350223491)
19. Kukar T, Murphy MP, Eriksen JL, Sagi SA, Weggen S, Smith TE, Ladd T, Khan MA, Kache R, Beard J, Dodson M, Merit S, Ozols VV, Anastasiadis PZ, Das P, Fauq A, Koo EH, Golde TE (2005) Diverse compounds mimic Alzheimer disease-causing mutations by augmenting Aβ42 production. Nat Med 11:545-550 (Pubitemid 40685978)
20. Lambert J-C, Mann DMA, Harris JM, Chartier-Harlin M-C, Cumming A, Coates J, Lemmon H, StClair D, Iwatsubo T, Lendon C (2001) The -48C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Aβ load in brain. J Med Genet 38:353-355 (Pubitemid 32554302)
21. Laudon H, Karlström H, Mathews PM, Farmery MR, Gandy SE, Lundkvist J, Lendahl U, Näslund J (2004) Functional domains in presenilin 1. J Biol Chem 279:23925-23932
22. Lazarov O, Morfini GA, Pigino G, Gadadhar A, Chen X, Robinson J, Ho H, Brady ST, Sisodia SS (2007) Impairments in fast axonal transport and motor neuron deficits in transgenic mice expressing familial Alzheimer's disease-linked mutant presenilin 1. J Neurosci 27:7011-7020 (Pubitemid 47015908)
23. Levitan D, Doyle TG, Brousseau D, Lee MK, Thinakaran G, Slunt HH, Sisodia SS, Greenwald I (1996) Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc Natl Acad Sci USA 93:14940-14944 (Pubitemid 26419074)
24. Marambaud P, Wen PH, Dutt A, Shioi J, Takashima A, Siman R, Robakis NK (2003) A CBP binding transcriptional repressor produced by the PS1/ε-cleavage of N-cadherin is inhibited by PS1 FAD mutations. Cell 114:635-645 (Pubitemid 37159259)
25. Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV (2006) Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 34:1317-1325
26. Nakaya Y, Yamane T, Shiraishi H, Wang H-Q, Matsubara E, Sato T, Dolios G, Wang R, De Strooper B, Shoji M, Komano H, Nishimura M (2005) Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid β-peptides. J Biol Chem 280:19070-19077 (Pubitemid 41379613)
27. Ng PC, Henikoff S (2006) Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 7:61-80 (Pubitemid 44627922)
28. Pigino G, Morfini G, Pelsman A, Mattson MP, Brady ST, Busciglio J (2003) Alzheimer's presenilin 1 mutations impair kinesin-based axonal transport. J Neurosci 23:4499-4508 (Pubitemid 36706180)
29. Price DL, Sisodia SS (1998) Mutant genes in familial Alzheimer's disease and transgenic models. Ann Rev Neurosci 21:479-505 (Pubitemid 28150671)
30. Qi-Takahara Y, Morishima-Kawashima M, Tanimura Y, Dolios G, Hirotani N, Horikoshi Y, Kametani F, Maeda M, Saido TC, Wang R, Ihara Y (2005) Longer forms of β amyloid protein: implications for the mechanism of intramembrane cleavage by γ-secretase. J Neurosci 25:436-445 (Pubitemid 40105614)
31. Rüdiger S, Freund SMV, Veprintsev DB, Fersht AR (2002) CRINEPT-TROSY NMR reveals p53 core domain bound in an unfolded form to the chaperone Hsp90. Proc Natl Acad Sci USA 99:11085-11090
32. Sato T, Dohmae N, Qi Y, Kakuda N, Misonou H, Mitsumori R, Maruyama H, Koo EH, Haass C, Takio K, Morishima-Kawashima M, Ishiura S, Ihara Y (2003) Potential link between amyloid β-protein 42 and C-terminal fragment γ 49-99 of β-amyloid precursor protein. J Biol Chem 278:24294-24301 (Pubitemid 37548579)
33. Selkoe DJ, Wolfe MS (2007) Presenilin: running with scissors in the membrane. Cell 131:215-221 (Pubitemid 47576152)
34. Shioi J, Georgakopoulos A, Mehta P, Kouchi Z, Litterst CM, Baki L, Robakis NK (2007) FAD mutants unable to increase neurotoxic Aβ 42 suggest that mutation effects on neurodegeneration may be independent of effects on Aβ. J Neurochem 101:674-681 (Pubitemid 46633320)
35. Song W, Nadeau P, Yuan M, Yang X, Shen J, Yankner BA (1999) Proteolytic release and nuclear translocation of Notch-1 are induced by preseniln-1 and impaired by pathogenic presenilin-1 mutations. Proc Natl Acad Sci USA 96:6959-6963 (Pubitemid 29274992)
36. Soriano S, Kang DE, Fu Maofu, Pestell R, Chevallier N, Koo EH (2001) Presenilin 1 negatively regulates β-catenin/T cell factor/lymphoid enhancer factor-1 signaling independently of β-amyloid precursor protein and Notch processing. J Cell Biol 152:785-794 (Pubitemid 34280163)
37. Soussi T, Wiman KG (2007) Shaping genetic alterations in human cancer: the p53 mutation paradigm. Cancer Cell 12:303-312 (Pubitemid 47539312)
38. Sundaram M, Greenwald I (1993) Genetic and phenotypic studies of hypomorphic lin-12 mutants in Casenorhabditis elegans. Genetics 135:755-763 (Pubitemid 23324819)
39. Theuns J, Del-Favero J, Dermaut B, van Duijn CM, Backhovens H, Van den Broeck M, Serneels S, Corsmit E, Van Broeckhoven C, Cruts M (2000) Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. Hum Mol Genet 9:325-331 (Pubitemid 30098724)
40. Theuns J, Remacle J, Killick R, Corsmit E, Vennekens K, Huylebroeck D, Cruts M, Van Broeckhoven C (2003) Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1. Hum Mol Genet 12:869-877 (Pubitemid 36504029)
41. Thomas PD, Campbell MJ, Kejariwal A, Mi H, Karlak B, Daverman R, Diemer K, Muruganujan A, Narechania A (2003) PANTHER: a library of protein families and subfamilies indexed by function. Genome Res 13:2129-2141 (Pubitemid 37161770)
42. Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680 (Pubitemid 24354800)
43. 2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. Cell 126:981-993
44. Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, Van Broeckhoven C, Wilcock G, Rubinsztein DC (1998) A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer's disease. Am J Hum Genet 62:70-76 (Pubitemid 28093836)
45. Vitkup D, Sander C, Church GM (2003) The amino-acid mutational spectrum of human genetic disease. Genome Biol 4:R72.1-R72.10
46. Walsh DM, Selkoe DJ (2004) Deciphering the molecular basis of memory failure in Alzheimer's disease. Neuron 44:181-193 (Pubitemid 39348839)
47. Weggen S, Rogers M, Eriksen J (2007) NSAIDs: small molecules for prevention of Alzheimer's disease or precursors for future drug development? Trends Pharmacol Sci 28:536-543
48. Weihofen A, Binns K, Lemberg MK, Ashman K, Martoglio B (2002) Identification of signal peptide peptidase, a presenilin-type aspartic protease. Science 296:2215-2218 (Pubitemid 34680305)
49. Welch WJ, Brown CR (1996) Influence of molecular and chemical chaperones on protein folding. Cell Stress Chaperones 1:109-115 (Pubitemid 126670772)
50. Wolfe MS (2007) When loss is gain: reduced presenilin proteolytic function leads to increased Aβ40/Aβ42. EMBO Rep 8:136-140
51. Wolfe MS, Xia W, Ostaszewski BL, Diehl TS, Kimberly WT, Selkoe DJ (1999) Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and γ-secretase activity. Nature 398:513-517 (Pubitemid 129523589)
52. Yoo AS, Cheng I, Chung S, Grenfell TZ, Lee H, Pack-Chung E, Handler M, Shen J, Xia W, Tesco G, Saunders AJ, Ding K, Frosch MP, Tanzi RE, Kim TW (2000) Presenilin-mediated modulation of capacitative calcium entry. Neuron 27:561-571
53. Zhao B, Yu M, Neitzel M, Marugg J, Jagodzinski J, Lee M, Hu K, Schenk D, Yednock T, Basi G (2008) Identification of γ-secretase inhibitor potency determinants on presenilin. J Biol Chem 283:2927-2983
54. Zhou S, Zhou H, Walian PJ, Jap BK (2005) CD147 is a regulatory subunit of the α-secretase complex in Alzheimer's disease amyloid β-peptide production. Proc Natl Acad Sci USA 102:7499-7504 (Pubitemid 40741000)