PIN1 promoter polymorphisms are associated with Alzheimer's disease

Neurobiology of Aging

Volumn 28, Issue 1, 2007, Pages 69-74

  Segat, L ^a   Pontillo, A ^a   Annoni, G ^c   Trabattoni, D ^d   Vergani, C ^d   Clerici, M ^d   Arosio, B ^d   Crovella, S ^a,b  

^a UNIVERSITY OF TRIESTE   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^c UNIVERSITY OF MILANO BICOCCA   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

Alzheimer's disease; Genetic polymorphisms; Genotype phenotype correlation; Neurofibrillary degeneration; PIN1

Indexed keywords

CYSTEINE; GLYCINE; PROTEIN; PROTEIN PIN1; THREONINE; UNCLASSIFIED DRUG;

AGED; ALLELE; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC CODE; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; ALZHEIMER DISEASE; BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMANS; INCIDENCE; ITALY; MALE; PEPTIDYLPROLYL ISOMERASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RISK ASSESSMENT; RISK FACTORS;

EID: 33751327516     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2005.11.009     Document Type: Article

References (23)

1. Alonso A.D.C., Grundke-Iqbal I., and Iqbal K. Alzheimer's disease hyperphosphorylated Tau sequesters normal Tau into tangles of filaments and disassembles microtubules. Nat Med 2 (1996) 783-787
2. Hamdane M., Delobel P., Sambo A.V., Smet C., Begard S., Violleau A., et al. Neurofibrillary degeneration of the Alzheimer-type: an alternate pathway to neuronal apoptosis?. Biochem Pharmacol 66 8 (2003) 1619-1625
3. Hutton M. Missense and splice site mutations in Tau associated with FTDP-17: multiple pathogenic mechanisms. Neurology 11 Suppl 4 (2001) S21-S25
4. Illenberger S., Zheng-Fischhofer Q., Preuss U., Stamer K., Baumann K., Trinczek B., et al. The endogenous and cell cycle-dependent phosphorylation of Tau protein in living cells: implications for Alzheimer's disease. Mol Biol Cell 9 6 (1998) 1495-1512
5. Laemnli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227 (1970) 680-685
6. Lim J., and Lu K.P. Pinning down phosphorylated Tau and Tauopathies. Biochim Biophys Acta 1739 2-3 (2005) 311-322
7. Lindwall G., and Cole R.D. Phosphorylation affects the ability of Tau protein to promote microtubule assembly. J Biol Chem 259 (1984) 5301-5305
8. Lio D., Scola L., Crivello A., Colonna-Romano G., Candore G., Bonafe M., et al. Gender-specific association between -1082 IL-10 promoter polymorphism and longevity. Genes Immun 3 1 (2002) 30-33
9. Liou Y.C., Sun A., Ryo A., Zhou X.Z., Yu Z.X., Huang H.K., et al. Role of the prolyl isomerase PIN1 in protecting against age-dependent neurodegeneration. Nature 424 6948 (2003) 556-561
10. Lu K.P., Hanes S.D., and Hunter T. A human peptidyl-prolyl isomerase essential for regulation of mitosis. Nature 380 6574 (1996) 544-547
11. Lu P.J., Wulf G., Zhou X.Z., Davies P., and Lu K.P. The prolyl isomerase PIN1 restores the function of Alzheimer-associated phosphorylated Tau protein. Nature 399 (1999) 784-788
12. Lu K.P., Liou Y.C., and Zhou X.Z. Pinning down proline-directed phosphorylation signaling. Trends Cell Biol 12 4 (2002) 164-172
13. Lu P.J., Zhou X.Z., Liou Y.C., Noel J.P., and Lu K.P. Critical role of WW domain phosphorylation in regulating phosphoserine binding activity and PIN1 function. J Biol Chem 277 4 (2002) 2381-2384
14. Lu K.P., Liou Y.C., and Vincent I. Proline-directed phosphorylation and isomerization in mitotic regulation and in Alzheimer's disease. Bioessays 25 2 (2003) 174-181
15. Lu K.P. Pinning down cell signaling, cancer and Alzheimer's disease. Trends Biochem Sci 29 4 (2004) 200-209
16. Miller S.A., Dykes D.D., and Polesky HF.A. Simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 16 (1988) 1215
17. McKhan G., Drachman D., Folstein M., Katzman R., Proce D., and Stadlan E.M. Clinical diagnosis of Alzheimer's disease. Neurology 34 7 (1984) 939-944
18. Poirier J., Davignon J., Bouthillier D., Kogan S., Bertrand P., and Gauthier S. Apolipoprotein E polymorphism and Alzheimer's disease. Lancet 342 8873 (1993) 697-699
19. Vincent I., Jicha G., Rosado M., and Dickson D.W. Aberrant expression of mitotic cdc2/cyclin B1 kinase in degenerating neurons of Alzheimer's disease brain. J Neurosci 17 10 (1997) 3588-3598
20. Weingarten M.D., Lockwood A.H., Hwo S.Y., and Kirschner M.W. A protein factor essential for microtubule assembly. Proc Natl Acad Sci USA 72 (1975) 1858-1862
21. Wijsman E.M., Daw E.W., Yu C.E., Payami H., Steinbart E.J., Nochlin D., et al. Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. Am J Hum Genet 75 3 (2004) 398-409
22. Yaffe M.B., Schutkowski M., Shen M., Zhou X.Z., Stukenberg P.T., Rahfeld J.U., et al. Sequence-specific and phosphorylation-dependent proline isomerization: a potential mitotic regulatory mechanism. Science 278 (1997) 1957-1960
23. Zhou X.Z., Kops O., Werner A., Lu P.J., Shen M., Stoller G., et al. PIN1-dependent prolyl isomerization regulates dephosphorylation of cdc25C and Tau proteins. Mol Cell 6 (2000) 873-883