Mucolipidosis type IV: The importance of functional lysosomes for efficient autophagy

Autophagy

Volumn 4, Issue 6, 2008, Pages 832-834

  Vergarajauregui, Silvia ^a   Puertollano, Rosa ^a  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

Autophagy; Lysosome; MLIV; Mucolipin 1; p62

Indexed keywords

ION CHANNEL; MUCOLIPIN 1; PROTEIN P62; UNCLASSIFIED DRUG;

ARTICLE; AUTOPHAGY; ENDOSOME; FIBROBLAST; GENE MUTATION; LYSOSOME; LYSOSOME STORAGE DISEASE; MEMBRANE TRANSPORT; MUCOLIPIDOSIS TYPE IV; NERVE DEGENERATION; PHENOTYPE; PROTEIN DEGRADATION; PROTEIN FUNCTION;

EID: 50249095558     PISSN: 15548627     EISSN: 15548635     Source Type: Journal    
DOI: 10.4161/auto.6567     Document Type: Article

References (30)

1. Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A. A block of autophagy in lysosomal storage disorders. Hum Mol Genet 2008; 17:119-29.
2. Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 2006; 67:1074-77.
3. Filimonenko M, Stuffers S, Raiborg C, Yamamoto A, Malerød L, Fisher EM, Isaacs A, Brech A, Stenmark H, Simonsen A. Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol 2007; 179:485-500.
4. Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005; 37:806-8.
5. Amir N, Zlotogora J, Bach G. Mucolipidosis type IV: clinical spectrum and natural history. Pediatrics 1987; 79:953-9.
6. Bach G. Mucolipidosis type IV. Mol Genet Metab 2001; 73:197-203.
7. Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas, NJ, Frei KP, Gupta S, Kaneski CR, et al. The neurogenetics of mucolipidosis type IV Neurology 2002; 59:306-13.
8. Slaugenhaupt SA, Acierno JS Jr, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet 1999; 65:773-8.
9. Bargal R, Avidan N, Ben Asher E, Olender Z, Zeigler M, Frumkin A, RaasRothschild A, Glusman G, Lancet D, Bach G. Identification of the gene causing mucolipidosis type IV. Nat Genet 2000; 26:118-23.
10. Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G. Cloning of the gene encoding a novel integral membrane protein mucolipin, and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet 2000; 67:1110-20.
11. Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, et al. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 2000; 9:2471-78.
12. Berman ER, Livni N, Shapira E, Merin S, Levij IS. Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis. J Pediatr 1974; 84:519-26.
13. Riedel KG, Zwaan J, Kenyon KR, Kolodny EH, Hanninen L, Albert DM. Ocular abnormalities in mucolipidosis IV. Am J Ophthalmol 1985; 99:125-36.
14. Goldin E, Cooney A, Kaneski CR, Brady RO, Schiffmann R. Mucolipidosis IV consists of one complementation group. Proc Natl Acad Sci USA 1999; 96:8562-66.
15. Vergarajauregui S, Connelly PS, Daniels MP, Puertollano R. Autophagic dysfunction in mucolipidosis type IV patients. Hum Mol Genet 2008; DOI: 10.1093/hmg/ddn174.
16. Talbot K, Ansorge O. Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease. Hum Mol Genet 2006; 15:R182-7.
17. Jennings JJ Jr, Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K. Mitochondrial aberrations in mucolipidosis Type IV. J Biol Chem 2006; 281:39041-50.
18. Terman A, Gustafsson B, Brunk UT. Autophagy, organelles and ageing. J Pathol 2007; 211:134-43.
19. Meijer WH, van der Klei IJ, Veenhuis M, Kiel JAKW. ATG genes involved in non-selective autophagy are conserved from yeast to man, but the selective Cvt and pexophagy pathways also require organism-specific genes. Autophagy 2007; 3:106-16.
20. Kraft C, Deplazes A, Sohrmann M, Peter M. Mature ribosomes are selectively degraded upon starvation by an autophagy pathway requiring the Ubp3p/Bre5p ubiquitin protease. Nat Cell Biol 2008; 10:602-10.
21. Roberts P, Moshitch-Moshkovitz S, Kvam E, O'Toole E, Winey M, Goldfarb DS. Piecemeal microautophagy of nucleus in Saccharomyces cerevisiae. Mol Biol Cell 2003; 14:129-41.
22. Shintani T, Huang WP, Stromhaug PE, Klionsky DJ. Mechanism of cargo selection in the cytoplasm to vacuole targeting pathway. Dev Cell 2002; 3:825-37.
23. Espert L, Codogno P, Biard-Piechaczyk M. Involvement ofautophagy in viral infections: antiviral function and subversion by viruses. J Mol Med 2007; 85:811-23.
24. Dengjel J, Schoor O, Fischer R, Reich M, Kraus M, Müller M, Kreymborg K, Altenberend F, Brandenburg J, Kaibacher H, et al. Autophagy promotes MHC class II presentation of peptides from intracellular source proteins. Proc Natl Acad Sci USA 2005; 102:7922-7.
25. Fader CM, Sánchez D, Furlán M, Colombo MI. Induction of autophagy promotes fusion of multivesicular bodies with autophagic vacuoles in k562 cells. Traffic 2008; 9:230-50.
26. Ravikumar B, Imarisio S, Sarkar S, O'Kane CJ, Rubinsztein DC. Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease. J Cell Sci 2008; 121:1649-60.
27. Backer JM. The regulation and function of Class III PI3Ks: novel roles for Vps34. Biochem J 2008; 410:1-17.
28. Ravikumar B, Vacher C, Berger Z, Davies JE, Luo S, Oroz LG, Scaravilli F, Easton DF, Duden R, O'Kane CJ, et al. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet 2004; 36:585-95.
29. Bergamini E, Cavallini G, Donati A, Gori Z. The role of macroautophagy in the ageing process, anti- ageing intervention and age-associated diseases. Int J Biochem Cell Biol 2004; 36:2392-404.
30. Wong ES, Tan JM, Soong WE, Hussein K, Nukina N, Dawson VL, Dawson TM, Cuervo AM, Lim KL. Autophagy-mediated clearance of aggresomes is not a universal phenomenon. Hum Mol Genet 2008; DOI 10.1093/hmg/ddn157.