Oxidative stress-induced apoptosis in two patients with Alagille syndrome

Journal of the Neurological Sciences

Volumn 308, Issue 1-2, 2011, Pages 49-56

  Radi, Elena ^a   Formichi, Patrizia ^a   Di Maio, Giuseppe ^a   Battisti, Carla ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

2 deoxy d ribose; Alagille syndrome; Apoptosis; Caspase 8; JAG1; Peripheral blood lymphocytes

Indexed keywords

2 DEOXYRIBOSE; CASPASE 8; JAGGED1; NOTCH RECEPTOR;

ADULT; ALAGILLE SYNDROME; APOPTOSIS; ARTICLE; CASE REPORT; CELL PROLIFERATION; CELL SURVIVAL; ENZYME ACTIVATION; EXON; FEMALE; FLOW CYTOMETRY; FLUORESCENCE MICROSCOPY; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; WESTERN BLOTTING;

ADULT; ALAGILLE SYNDROME; APOPTOSIS; CALCIUM-BINDING PROTEINS; CELLS, CULTURED; CHILD; FEMALE; GENE DELETION; HETEROZYGOTE DETECTION; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LIGANDS; MEMBRANE PROTEINS; MUTATION; OXIDATIVE STRESS;

EID: 80051583047     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.06.025     Document Type: Article

References (34)

1. D. Alagille, M. Odievre, M. Gutier, and J.P. Dommergues Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur J Pediatr 86 1975 63 71
2. D. Alagille, A. Estrada, M. Hadchouel, M. Gautier, M. Odièvre, and J.P. Dommergues Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases J Pediatr 110 1987 195 200
3. D.A. Piccoli, and N.B. Spinner Alagille syndrome and the Jagged1 gene Semin Liver Dis 4 2001 525 534
4. E.J. Hoffenberg, M.R. Narkewicz, J.M. Sondheimer, D.J. Smith, A. Silverman, and R.J. Sokol Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy J Pediatr 127 1995 220 224
5. K.M. Emerick, E.B. Rand, E. Goldmuntz, I.D. Krantz, N.B. Spinner, and D.A. Piccoli Features of Alagille syndrome in 92 patients: frequency and relation to prognosis Hepatology 29 1999 822 829
6. A. Rachmel, A. Zeharia, M. Neuman-Levin, R. Weitz, R. Shamir, and G. Dinari Alagille syndrome associated with moyamoya disease Am J Med Gen 33 1989 89 91
7. M. Ezura, T. Yoshimoto, S. Fujiwara, A. Takahashi, R. Shirane, and K. Mizoi Clinical and angiographic follow-up of childhood-onset moyamoya disease Childs Nerv Syst 11 1995 591 594
8. A.R. Woolfenden, G.W. Albers, G.K. Steinberg, J.S. Hahn, D.C. Johnston, and K. Farrell Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy Pediatrics 103 1999 505 508
9. S.E.J. Connor, D. Hewes, C. Ball, and J.M. Jarosz Alagille syndrome associated with angiographic moyamoya Childs Nerv Syst 18 2002 186 190
10. D.M. Warthen, E.C. Moore, B.M. Kamath, J.J. Morrissette, P. Sanchez, and D.A. Piccoli Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate Hum Mutat 27 2006 436 443
11. B. Hock, B. Böhme, T. Karn, T. Yamamoto, K. Kaibuchi, and U. Holtrich PDZ-domain-mediated interaction of the Eph-related receptor tyrosine kinase EphB3 and the ras-binding protein AF6 depends on the kinase activity of the receptor Proc Natl Acad Sci USA 95 1998 9779 9784
12. G. Weinmaster The ins and outs of notch signaling Mol Cell Neurosci 9 1997 91 102
13. F. Jundt, I. Anagnostopoulos, R. Forster, S. Mathas, H. Stein, and B. Dorken Activated Notch1 signaling promotes tumor cell proliferation and survival in Hodgkin and anaplastic cell lymphoma Blood 99 2002 3398 3403
14. Y. Nefedova, P. Cheng, M. Alsina, W.S. Dalton, and D.I. Gabrilovich Involvement of Notch-1 signaling in bone marrow stroma-mediated de novo drug resistance of myeloma and other malignant lymphoid cell lines Blood 103 2004 3503 3510
15. E. Rosati, R. Sabatini, G. Rampino, A. Tabillo, M. Di Ianni, and K. Fettucciari Constitutively activated Notch signaling is involved in serviva and apoptosis resi stance of B-CLL cells Blood 113 2009 856 865
16. S.O. Yoon, X. Zhang, P. Berner, B. Blom, and Y.S. Choi Notch ligands expressed by follicular dendritic cells protect germinal center B-cells from apoptosis J Immunol 183 2009 352 358
17. M. Weller, N. Krautler, N. Mantei, U. Suter, and V. Taylor Jagged 1 ablation results in cerebellar granule cell migration defects and depletion of Bergmann glia Dev Neurosci 28 2006 70 80
18. M.J. LaVoie, and D.J. Selkoe The Notch ligands, Jagged and Delta, are sequentially processed by alpha-secretase and presenilin/gamma-secretase and release signaling fragments J Biol Chem 278 2003 34427 34437
19. B.W. Purow, R.M. Haque, and M.W. Noel Expression of Notch-1 and its ligands, Delta-like-1 and Jagged-1, is critical for glioma cell survival and proliferation Cancer Res 65 2005 2353 2363
20. J.M. Ascano, L.J. Beverly, and A.J. Capobianco The C-terminal PDZ-ligand of JAGGED1 is essential for cellular transformation J Biol Chem 278 2003 8771 8779
21. E. Shaulian, and M. Karin AP-1 in cell proliferation and survival Oncogene 20 2001 2390 2400
22. D. Kletsas, D. Barbieri, D. Stahakos, B. Botti, S. Bergamini, and A. Tomasi The highly reducing sugar 2-deoxy-d-ribose induces apoptosis in human fibroblasts by reduced glutathione depletion and cytoskeletal disruption Biochem Biophys Res Commun 243 1998 416 425
23. C. Battisti, P. Formichi, S.A. Tripodi, P. Mangiavacchi, P. Tosi, and A. Federico Increased apoptotic response to 2-deoxy-d-ribose in ataxia-telangiectasia J Neurol Sci 144 1996 128 134
24. P. Formichi, C. Battisti, S.A. Tripodi, P. Tosi, and A. Federico Apoptotic response and cell cycle transition in ataxia telangiectasia cells exposed to oxidative stress Life Sci 66 2000 1893 1903
25. P. Formichi, E. Radi, C. Battisti, G. Di Maio, E. Tarquini, and A. Leonini Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients J Cell Physiol 219 2009 494 502
26. A. Boyum Separation of lymphocytes, granulocytes, and monocytes from human blood using iodinated density gradient media Methods Enzymol 108 1984 88 102
27. I. Nicoletti, G. Migliorati, M.C. Pagliacci, F. Grignani, and C. Riccardi A rapid and simple method for measuring thymocyte apoptosis by propidium iodide staining and flow cytometry J Immunol Methods 139 1991 271 279
28. C.E. Lindsell, C.J. Shawber, J. Boulter, and G. Weinmaster Jagged: a mammalian ligand that activates Notch1 Cell 80 1995 909 917
29. J.D. Morrissette, R.P. Colliton, and N.B. Spinner Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome Hum Mol Genet 10 2001 405 413
30. J.A. Holbrook, G. Neu-Yilik, M.W. Hentze, and A.E. Kulozik Nonsense-mediated decay approaches the clinic Nat Genet 36 2004 801 808
31. J. Boyer-Di Ponio, C. Wright-Crosnier, M.T. Groyer-Picard, C. Driancourt, I. Beau, and M. Hadchouel Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling Hum Mol Genet 16 2007 2683 2692
32. V. Vas, L. Szilágyi, K. Pálóczi, and F. Uher Soluble Jagged-1 is able to inhibit the function of its multivalent form to induce hematopoietic stem cell self-renewal in a surrogate in vitro assay J Leukoc Biol 75 2004 714 720
33. B.C. Barnhart, P. Legembre, E. Pietras, C. Bubici, G. Franzoso, and M.E. Peter CD95 ligand induces motility and invasiveness of apoptosis-resistant tumor cells EMBO J 23 2004 3175 3185
34. V. Cowling, and J. Downward Caspase-6 is the direct activator of caspase-8 in the cytochrome c-induced apoptosis pathway: absolute requirement for removal of caspase-6 prodomain Cell Death Differ 9 2002 1046 1056