A block of autophagy in lysosomal storage disorders

Human Molecular Genetics

Volumn 17, Issue 1, 2008, Pages 119-129

  Settembre, Carmine ^a   Fraldi, Alessandro ^a   Jahreiss, Luca ^b   Spampanato, Carmine ^a   Venturi, Consuelo ^c   Medina, Diego ^a   de Pablo, Raquel ^a   Tacchetti, Carlo ^c   Rubinsztein, David C ^b   Ballabio, Andrea ^a,d  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; HUNTINGTIN; LYSOSOME ENZYME; POLYUBIQUITIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOPHAGY; CELL DEATH; CELL FUSION; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EMBRYO; LYSOSOME STORAGE DISEASE; MOUSE; MULTIPLE SULFATASE DEFICIENCY; NERVE DEGENERATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; SANFILIPPO SYNDROME;

ANIMALS; AUTOPHAGY; BASE SEQUENCE; CELLS, CULTURED; DNA PRIMERS; HUMANS; LYSOSOMAL STORAGE DISEASES; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; LYSOSOMES; MEMBRANE FUSION; MICE; MICROTUBULE-ASSOCIATED PROTEINS; MITOCHONDRIA; MUCOPOLYSACCHARIDOSIS III; MULTIPLE SULFATASE DEFICIENCY DISEASE; NERVE DEGENERATION; PHAGOSOMES; TRANSFECTION; UBIQUITINATION;

MUS;

EID: 37549066697     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm289     Document Type: Article

References (39)

1. Futerman, A.H. and van Meer, G. (2004) The cell biology of lysosomal storage disorders. Nat. Rev. Mol. Cell. Biol., 5, 554-565.
2. Jeyakumar, M., Dwek, R.A., Butters, T.D. and Platt, F.M. (2005) Storage solutions: Treating lysosomal disorders of the brain. Nat. Rev. Neurosci., 6, 713-725.
3. Cardone, M., Polito, V.A., Pepe, S., Mann, L., D'Azzo, A., Auricchio, A., Ballabio, A. and Cosma, M.P. (2006) Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum. Mol. Genet., 15, 1225-1236.
4. Hemsley, K.M. and Hopwood, J.J. (2005) Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). Behav. Brain Res., 158, 191-199.
5. Fraldi, A., Hemsley, K., Crawley, A., Lombardi, A., Lau, A., Sutherland, L., Auricchio, A., Ballabio, A. and Hopwood, J. (2007) Functional correction of CNS lesions in a MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum. Mol. Genet., 2007; doi: 10.1093/hmg/ddm223.
6. Settembre, C., Annunziata, I., Spampanato, C., Zarcone, D., Cobellis, G., Nusco, E., Zito, E., Tacchetti, C., Cosma, M.P. and Ballabio, A. (2007) Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc. Natl Acad. Sci. USA, 104 4506-4511.
7. Mizushima, N., Ohsumi, Y. and Yoshimori, T. (2002) Autophagosome formation in mammalian cells. Cell. Struct. Funct., 27, 421-429.
8. Rubinsztein, D.C. (2006) The roles of intracellular protein-degradation pathways in neurodegeneration. Nature, 443, 780-786.
9. Komatsu, M., Waguri, S., Chiba, T., Murata, S., Iwata, J., Tanida, I., Ueno, T., Koike, M., Uchiyama, Y., Kominami, E. et al. (2006) Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature, 441, 880-884.
10. Hara, T., Nakamura, K., Matsui, M., Yamamoto, A., Nakahara, Y., Suzuki-Migishima, R., Yokoyama, M., Mishima, K., Saito, I., Okano, H. et al. (2006) Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature, 441, 885-889.
11. Cosma, M.P., Pepe, S., Annunziata, I., Newbold, R.F., Grompe, M., Parenti, G. and Ballabio, A. (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell, 113, 445-456.
12. Dierks, T., Schmidt, B., Borissenko, L.V., Peng, J., Preusser, A., Mariappan, M. and von Figura, K. (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell, 113, 435-444.
13. Bhattacharyya, R., Gliddon, B., Beccari, T., Hopwood, J.J. and Stanley, P. (2001) A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology, 11, 99-103.
14. Kabeya, Y., Mizushima, N., Ueno, T., Yamamoto, A., Kirisako, T., Noda, T., Kominami, E., Ohsumi, Y. and Yoshimori, T. (2000) LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosonte membranes after processing. EMBO J., 19, 5720-5728.
15. Tanaka, Y., Guhde, G., Suter, A., Eskelinen, E.L., Hartmann, D., Lullmann-Rauch, R., Janssen, P.M., Blanz, J., von Figura, K. and Saftig, P. (2000) Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature, 406, 902-906.
16. Boland, B. and Nixon, R.A. (2006) Neuronal macroautophagy: From development to degeneration. Mol. Aspects Med., 27, 503-519.
17. Yamamoto, A., Tagawa, Y., Yoshimori, T., Moriyama, Y., Masaki, R. and Tashiro, Y. (1998) Bafilomycin A1 prevents maturation of autophagic vacuoles by inhibiting fusion between autophagosomes and lysosomes in rat hepatoma cell line, H-4-II-E cells. Cell. Struct. Funct., 23, 33-42.
18. Ravikumar, B., Duden, R. and Rubinsztein, D.C. (2002) Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum. Mol. Genet., 11, 1107-1117.
19. Narain, Y., Wyttenbach, A., Rankin, J., Furlong, R.A. and Rubinsztein, D.C. (1999) A molecular investigation of true dominance in Huntington's disease. J. Med. Genet., 36, 739-746.
20. Webb, J.L., Ravikumar, B., Atkins, J., Skepper, J.N. and Rubinsztein, D.C. (2003) Alpha-synuclein is degraded by both autophagy and the proteasome. J. Biol. Chem., 278, 25009-25013.
21. Nixon, R.A. (2006) Autophagy in neurodegenerative disease: Friend, foe or turncoat? Trends Neurosci., 29, 528-535.
22. Komatsu, M., Ueno, T., Waguri, S., Uchiyama, Y., Kominami, E. and Tanaka, K. (2007) Constitutive autophagy: Vital role in clearance of unfavorable proteins in neurons. Cell Death Differ., 14, 887-894.
23. Zatloukal, K., Stumptner, C., Fuchsbichler, A., Heid, H., Schnoelzer, M., Kenner, L., Kleinert, R., Prinz, M., Aguzzi, A. and Denk, H. (2002) p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases. Am. J. Pathol., 160, 255-263.
24. Bjorkoy, G., Lamark, T., Brech, A., Outzen, H., Perander, M., Overvatn, A., Stenmark, H. and Johansen, T. (2005) p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. J. Cell Biol., 171, 603-614.
25. Kim, I., Rodriguez-Enriquez, S. and Lemasters, J.J. (2007) Selective degradation of mitochondria by mitophagy. Arch. Biochem. Biophys., 462, 245-253.
26. Koike, M., Shibata, M., Waguri, S., Yoshimura, K., Tanida, I., Kominami, E., Gotow, T., Peters, C., von Figura, K., Mizushima, N. et al. (2005) Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). Am. J. Pathol., 167, 1713-1728.
27. Jennings, J.J., Jr, Zhu, J.H., Rbaibi, Y., Luo, X., Chu, C.T. and Kiselyov, K. (2006) Mitochondrial aberrations in mucolipidosis Type IV. J. Biol. Chem., 281, 39041-39050.
28. Neufeld, E.F. and Muenzer, J. (2001) The mucopolysaccharidoses. The Metabolic and Molecular Basis of Inherited Disease. Mc Graw-Hill, New York, pp. 3421-3452.
29. Cao, Y., Espinola, J.A., Fossale, E., Massey, A.C., Cuervo, A.M., MacDonald, M.E. and Cotman, S.L. (2006) Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J. Biol. Chem., 281, 20483-20493.
30. Fukuda, T., Ewan, L., Bauer, M., Mattaliano, R.J., Zaal, K., Ralston, E., Plotz, P.H. and Raben, N. (2006) Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann. Neurol., 59, 700-708.
31. Ko, D.C., Milenkovic, L., Beier, S.M., Manuel, H., Buchanan, J. and Scott, M.P. (2005) Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease. PLoS Genet., 1 81-95.
32. Pacheco, C.D., Kunkle, R. and Lieberman, A.P. (2007) Autophagy in Niemann-Pick C disease is dependent upon Beclin-I and responsive to lipid trafficking defects. Hum. Mol. Genet, 16, 1495-1503.
33. Boya, P., Gonzalez-Polo, R.A., Casares, N., Perfettini, J.L., Dessert, P., Larochette, N., Metivier, D., Meley, D., Souquere, S., Yoshimori, T. et al. (2005) Inhibition of macroautophagy triggers apoptosis. Mol. Cell. Biol., 25, 1025-1040.
34. Ravikumar, B., Berger, Z., Vacher, C., O'Kane, C.J. and Rubinsztein, D.C. (2006) Rapamycin pre-treatment protects against apoptosis. Hum. Mol. Genet., 15, 1209-1216.
35. Rideout, H.J., Larsen, K.E., Sulzer, D. and Stefanis, L. (2001) Proteasomal inhibition leads to formation of ubiquitin/ alpha-synuclein-immunoreactive inclusions in PC12 cells. J. Neurochem., 78, 899-908.
36. Shimura, H., Hattori, N., Kubo, S., Mizuno, Y., Asakawa, S., Minoshima, S., Shimizu, N., Iwai, K., Chiba, T., Tanaka, K. et al. (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat. Genet., 25, 302-305.
37. Bence, N.F., Sampat, R.M. and Kopito, R.R. (2001) Impairment of the ubiquitin-proteasome system by protein aggregation. Science, 292, 1552-1555.
38. Diaz-Hernandez, M., Hernandez, F., Martin-Aparicio, E., Gomez-Ramos, P., Moran, M.A., Castano, J.G., Ferrer, I., Avila, J. and Lucas, J.J. (2003) Neuronal induction of the immumproteasome in Huntington's disease. J. Neurosci., 23, 11653-11661.
39. Pandey, U.B., Nie, Z., Batlevi, Y., McCray, B.A., Ritson, G.P., Nedelsky, N.B., Schwartz, S.L., DiProspero, N.A., Knight, M.A., Schuldiner, O. et al. (2007) HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature, 447, 859-863.