Role of hnRNP-A1 and miR-590-3p in neuronal death: Genetics and expression analysis in patients with alzheimer disease and frontotemporal lobar degeneration

Rejuvenation Research

Volumn 14, Issue 3, 2011, Pages 275-281

  Villa, Chiara ^a   Fenoglio, Chiara ^a   De Riz, Milena ^a   Clerici, Francesca ^b   Marcone, Alessandra ^c   Benussi, Luisa ^d   Ghidoni, Roberta ^d   Gallone, Salvatore ^e   Cortini, Francesca ^a   Serpente, Maria ^a   Cantoni, Claudia ^a   Fumagalli, Giorgio ^a   Boneschi, Filippo Martinelli ^c   Cappa, Stefano ^c,f   Binetti, Giuliano ^d   Franceschi, Massimo ^g   Rainero, Innocenzo ^e   Giordana, Maria Teresa ^e   Mariani, Claudio ^b   Bresolin, Nereo ^a   Scarpini, Elio ^a   Galimberti, Daniela ^a   more..

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

^f VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^g Clinica Neurologica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; MICRORNA;

AGED; ALZHEIMER DISEASE; ARTICLE; CELL DEATH; CONTROLLED STUDY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE FREQUENCY; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NERVE CELL; PATHOGENESIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RISK FACTOR; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

AGED; ALLELES; ALZHEIMER DISEASE; BASE SEQUENCE; CASE-CONTROL STUDIES; CELL DEATH; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; GENE EXPRESSION REGULATION; GENE FREQUENCY; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; HUMANS; MALE; MICRORNAS; MOLECULAR SEQUENCE DATA; NEURONS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT;

EID: 79960367942     PISSN: 15491684     EISSN: 15578577     Source Type: Journal    
DOI: 10.1089/rej.2010.1123     Document Type: Article

References (21)

1. Donev R, Newall A, Thome J, Sheer D. A role for SC35 and hnRNPA1 in the determination of Amyloid Precursor Protein isoforms. Mol Psychiatry 2007;12:681-690. (Pubitemid 46998252)
2. Guil S, Cáceras JF. The multifunctional RNA-binding protein hnRNP A1 is required for processing of miR-18a. Nat Struct Mol Biol 2007;14:591-596. (Pubitemid 47037061)
3. Bartel DP. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 2004;116:281-297.
4. Alvarez-Garcia I, Miska EA. MicroRNA functions in animal development and human disease. Development 2005;132: 4653-4662. (Pubitemid 41685276)
5. Pesidiris GS, Lee VM, Trojanowski JQ. Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Hum Mol Genet 2009;18:R156-R162.
6. Buratti E, Baralle FE. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem 2001;276:36337-36343.
7. Buratti E, Brindisi A, Pagani F, Baralle FE. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR in-tron 8 and causes skipping of exon 9: A functional link with disease penetrance. Am J Hum Genet 2004;74:1322-1325. (Pubitemid 38669335)
8. Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE. TDP-43 binds heterogeneous nuclear ribonu-cleoprotein A/B through its C-terminal tail: An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 2005;280: 37572-37584. (Pubitemid 41642366)
9. Neumann M, Igaz LM, Kwong LK, Nakashima-Yasuda H, Kolb SJ, Dreyfuss G, Kretzschmar HA, Trojanowski JQ, Lee VM. Absence of heterogeneous nuclear ribonucleoproteins and survival motor neuron protein in TDP-42 positive inclusions in frontotemporal lobar degeneration. Acta Neuro-pathol 2007;113:543-548. (Pubitemid 46672600)
10. Kashima T, Rao N, David CJ, Manley JL. hnRNP1A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum Mol Genet 2007;16:3149-3159. (Pubitemid 350131332)
11. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF. Fronto-temporal lobar degeneration. A consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
12. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ; Work Group on Frontotemporal Dementia and Pick's Disease. Clinical and pathological diagnosis of frontotemporal dementia. Arch Neurol 2001;58: 1803-1809.
13. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34:939-944. (Pubitemid 14076461)
14. Del Bo R, Comi GP, Bresolin N, Castelli E, Conti E, De-giuli A, Ausenda CD, Scarlato G. The apolipoprotein E epsilon4 allele causes a faster decline of cognitive performances in Down's syndrome subjects. J Neurol Sci 1997; 145:87-91. (Pubitemid 27141584)
15. Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006;15:2988-3001. (Pubitemid 44530703)
16. Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Rad-ford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J Neuropathol Exp Neurol 2007;66:142-151. (Pubitemid 46208735)
17. Cortini F, Fenoglio C, Guidi I, Venturelli E, Pomati S, Mar-cone A, Scalabrini D, Villa C, Clerici F, Dalla Valle E, Mar-iani C, Cappa S, Bresolin N, Scarpini E, Galimberti D Novel exon 1 progranulin gene variant in Alzheimer's disease. Eur J Neurol 2008;15:1111-1117.
18. Boeve BF, Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17. Arch Neurol 2008;65:460-464.
19. Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, Niermeijer MF, Hillebrand M, Ravid R, Oostra BA, Goedert M, van Duijn CM, Heutink P. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999;64:414-421. (Pubitemid 129500524)
20. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X-syndrome. Am J Hum Genet 2000;66:6-15. (Pubitemid 30481464)
21. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001;25:402-408. (Pubitemid 34164012)