Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts

Clinica Chimica Acta

Volumn 411, Issue 23-24, 2010, Pages 1920-1928

  Hsu, Shih Hsien ^a   Lai, Ming Chi ^b   Er, Tze Kiong ^a,c   Yang, San Nan ^a,c   Hung, Chih Hsing ^a,c   Tsai, Hsin Hung ^a   Lin, Yu Chieh ^a   Chang, Jan Gowth ^a,c,d   Lo, Yi Ching ^a   Jong, Yuh Jyh ^a,c  

^a KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^b CHI MEI MEDICAL CENTER   (Taiwan)

^c KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

Author keywords

SMA; SMN; Ubiquitination; UCHL1

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN; UBIQUITIN CARBOXY TERMINAL HYDROXYLASE L1; UBIQUITIN THIOLESTERASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ENZYME INHIBITION; FUNCTIONAL PROTEOMICS; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; IMMUNOPRECIPITATION; LIQUID CHROMATOGRAPHY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SKIN FIBROBLAST; SPINAL MUSCULAR ATROPHY; TANDEM MASS SPECTROMETRY; TWO DIMENSIONAL ELECTROPHORESIS; UBIQUITINATION;

ANIMALS; CELL LINE; FIBROBLASTS; GENE EXPRESSION REGULATION; HUMANS; MICE; MUSCULAR ATROPHY, SPINAL; PROTEOMICS; SMN COMPLEX PROTEINS; UBIQUITIN THIOLESTERASE; UBIQUITINATION;

EID: 77957754345     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.07.035     Document Type: Article

References (44)

1. Munsat T.L. Workshop report: international SMA collaboration. Neuromuscul Disease 1991, 1:81.
2. Russman B.S. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 2007, 22:946-951.
3. Lunn M.R., Wang C.H. Spinal muscular atrophy. Lancet 2008, 371:2120-2133.
4. Lefebvre S., Burglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
5. Singh N.N., Androphy E.J., Singh R.N. The regulation and regulatory activities of alternative splicing of the SMN gene. Crit Rev Eukaryot Gene Expr 2004, 14:271-285.
6. Frugier T., Nicole S., Cifuentes-Diaz C., et al. The molecular bases of spinal muscular atrophy. Curr Opin Genet Dev 2002, 12:294-298.
7. Hsieh-Li H.M., Chang J.G., Jong Y.J., et al. A mouse model for spinal muscular atrophy. Nat Genet 2000, 24:66-70.
8. Wilkinson K.D., Lee K.M., Deshpande S., et al. The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase. Science 1989, 246:670-673.
9. Liu Z., Meray R.K., Grammatopoulos T.N., et al. Membrane-associated farnesylated UCH-L1 promotes alpha-synuclein neurotoxicity and is a therapeutic target for Parkinson's disease. Proc Natl Acad Sci U S A 2009, 106:4635-4640.
10. Liu Y., Fallon L., Lashuel H.A., et al. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell 2002, 111:209-218.
11. Osaka H., Wang Y.L., Takada K., et al. Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron. Hum Mol Genet 2003, 12:1945-1958.
12. Wilson R.S., Martin E.M. New intrathecal drugs in Alzheimer's disease and psychometric testing. Ann N Y Acad Sci 1988, 531:180-186.
13. Saigoh K., Wang Y.L., Suh J.G., et al. Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice. Nat Genet 1999, 23:47-51.
14. Castegna A., Aksenov M., Aksenova M., et al. Proteomic identification of oxidatively modified proteins in Alzheimer's disease brain. Part I: creatine kinase BB, glutamine synthase, and ubiquitin carboxy-terminal hydrolase L-1. Free Radic Biol Med 2002, 33:562-571.
15. Choi J., Levey A.I., Weintraub S.T., et al. Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases. J Biol Chem 2004, 279:13256-13264.
16. Gao X., Martin E.R., Liu Y., et al. Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. Am J Hum Genet 2009, 84:499-504.
17. Setsuie R., Wada K. The functions of UCH-L1 and its relation to neurodegenerative diseases. Neurochem Int 2007, 51:105-111.
18. Gong B., Cao Z., Zheng P., et al. Ubiquitin hydrolase Uch-L1 rescues beta-amyloid-induced decreases in synaptic function and contextual memory. Cell 2006, 126:775-788.
19. Zhang J., Hattori N., Leroy E., et al. Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic Parkinson's disease. Parkinsonism Relat Disord 2000, 6:195-197.
20. Hsu S.H., Hsieh-Li H.M., Huang H.Y., et al. bHLH-zip transcription factor Spz1 mediates mitogen-activated protein kinase cell proliferation, transformation, and tumorigenesis. Cancer Res 2005, 65:4041-4050.
21. Lu C.Y., Chang Y.M., Tseng W.L., et al. Analysis of angiotensin II receptor antagonist and protein markers at microliter level plasma by LC-MS/MS. J Pharm Biomed Anal 2009, 49:123-128.
22. Hsu S.H., Hsieh-Li H.M., Li H. Dysfunctional spermatogenesis in transgenic mice overexpressing bHLH-Zip transcription factor, Spz1. Exp Cell Res 2004, 294:185-198.
23. Hsu S.H., Shyu H.W., Hsieh-Li H.M., et al. Spz1, a novel bHLH-Zip protein, is specifically expressed in testis. Mech Dev 2001, 100:177-187.
24. Wirth B., Brichta L., Hahnen E. Spinal muscular atrophy: from gene to therapy. Semin Pediatr Neurol 2006, 13:121-131.
25. Sumner C.J., Fischbeck K.H. Spinal Muscular Atrophy. Neurobiology of Disease 2006, 501-512. edited by Gilman S, Elsevier, San Diego CA.
26. Chang J.G., Hsieh-Li H.M., Jong Y.J., et al. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A 2001, 98:9808-9813.
27. Brichta L., Hofmann Y., Hahnen E., et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 2003, 12:2481-2489.
28. van Bergeijk J., Haastert K., Grothe C., et al. Valproic acid promotes neurite outgrowth in PC12 cells independent from regulation of the survival of motoneuron protein. Chem Biol Drug Des 2006, 67:244-247.
29. Andreassi C., Angelozzi C., Tiziano F.D., et al. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 2001, 12:59-65.
30. Hauke J., Riessland M., Lunke S., et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet 2009, 18:304-317.
31. Andreassi C., Jarecki J., Zhou J., et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 2001, 10:2841-2849.
32. Zhang M.L., Lorson C.L., Androphy E.J., et al. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther 2001, 8:1532-1538.
33. Chang H.C., Hung W.C., Chuang Y.J., et al. Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway. Neurochem Int 2004, 45:1107-1112.
34. Burnett B.G., Munoz E., Tandon A., et al. Regulation of SMN protein stability. Mol Cell Biol 2009, 29:1107-1115.
35. Larsen C.N., Price J.S., Wilkinson K.D. Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues. Biochemistry 1996, 35:6735-6744.
36. Case A., Stein R.L. Mechanistic studies of ubiquitin C-terminal hydrolase L1. Biochemistry 2006, 45:2443-2452.
37. Hemelaar J., Borodovsky A., Kessler B.M., et al. Specific and covalent targeting of conjugating and deconjugating enzymes of ubiquitin-like proteins. Mol Cell Biol 2004, 24:84-95.
38. Gereben B., Goncalves C., Harney J.W., et al. Selective proteolysis of human type 2 deiodinase: a novel ubiquitin-proteasomal mediated mechanism for regulation of hormone activation. Mol Endocrinol 2000, 14:1697-1708.
39. Rotin D., Kumar S. Physiological functions of the HECT family of ubiquitin ligases. Nat Rev Mol Cell Biol 2009, 10:398-409.
40. Hochstrasser M. Ubiquitin ligation without a ligase. Dev Cell 2007, 13:4-6.
41. Gao M., Karin M. Regulating the regulators: control of protein ubiquitination and ubiquitin-like modifications by extracellular stimuli. Mol Cell 2009, 19:581-593.
42. Tan Y.Y., Zhou H.Y., Wang Z.Q., et al. Endoplasmic reticulum stress contributes to the cell death induced by UCH-L1 inhibitor. Mol Cell Biochem 2008, 318:109-115.
43. Bifsha P., Landry K., Ashmarina L., et al. Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway. Cell Death Differ 2007, 14:511-523.
44. Day I.N., Thompson R.J. UCHL1 (PGP 9.5): neuronal biomarker and ubiquitin system protein. Prog Neurobiol 2010, 90:327-362.