Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

Neurobiology of Disease

Volumn 43, Issue 1, 2011, Pages 113-122

  Reith, R Michelle ^a   Way, Sharon ^a   McKenna, James ^a   Haines, Katherine ^a   Gambello, Michael J ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

Neurodegeneration; Purkinje cell; Tsc2; Tuberin; Tuberous sclerosis complex

Indexed keywords

RAPAMYCIN; TUBERIN;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; CASE REPORT; CELL SIZE; CELL SPECIFICITY; CELL SURVIVAL; CEREBELLUM; CONTROLLED STUDY; ENDOPLASMIC RETICULUM STRESS; FEMALE; GENE DELETION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOTOR DYSFUNCTION; MOUSE; NERVE CELL NECROSIS; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; OXIDATIVE STRESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PURKINJE CELL; TUBEROUS SCLEROSIS;

ADULT; ANIMALS; APOPTOSIS; CELL SIZE; CELL SURVIVAL; DISEASE MODELS, ANIMAL; ENDOPLASMIC RETICULUM; FEMALE; HUMANS; MICE; MICE, 129 STRAIN; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MIDDLE AGED; OXIDATIVE STRESS; PURKINJE CELLS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 79955979597     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.02.014     Document Type: Article

References (57)

1. Alexander A., et al. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS. PNAS 2010, 107:4153-4158.
2. Asano E., et al. Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction. Neurology 2001, 57:1269-1277.
3. Barski J.J., et al. Cre recombinase expression in cerebellar Purkinje cells. Genesis 2000, 28:93-98.
4. Bhaskar P., Hay N. The two TORCs and Akt. Dev. Cell 2007, 12:487-502.
5. Bissler J., et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N. Engl. J. Med. 2008, 358:140-151.
6. Boer K., et al. Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. Neuropathology 2008, 28:577-590.
7. Bolanos J., et al. Mitochondria and reactive oxygen and nitrogen species in neurological disorders and stroke: therapeutic implications. Adv. Drug Deliv. Rev. 2009, 61:1299-1313.
8. Consortium, E. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993, 75:1305-1315.
9. Crino P., et al. The tuberous sclerosis complex. N. Engl. J. Med. 2006, 355:1345-1356.
10. Crooks R., et al. Patterns of cerebellar atrophy in patients with chronic epilepsy: a quantitative neuropathological study. Epilepsy Res. 2000, 41:63-73.
11. Cullinan S., Diehl J. Coordination of ER and oxidative stress signaling: the PERK/Nrf2 signaling pathway. Int. J. Biochem. Cell Biol. 2006, 38:317-332.
12. DiMario F.J. Brain abnormalities in tuberous sclerosis complex. J. Child Neurol. 2004, 19:650-657.
13. DiNardo A., et al. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J. Neurosci. 2009, 29:5926-5937.
14. El-Hashemite N., et al. Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet 2003, 361:1348-1349.
15. Eluvathingal T.J., et al. Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates. J. Child. Neurol. 2006, 21:846-851.
16. Emerit J., et al. Neurodegenerative diseases and oxidative stress. Biomed. Pharmacother. 2004, 58:39-46.
17. Franz D.N., et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann. Neurol. 2006, 59:490-498.
18. Gordon N. The cerebellum and cognition. Eur. J. Peadiat. Neurol. 2007, 11:232-234.
19. Henske E., et al. Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am. J. Pathol. 1997, 151:1639-1647.
20. Hernandez O., et al. Generation of a conditional disruption of the Tsc2 gene. Genesis 2007, 45:101-106.
21. Hotamisligil G.S. Endoplasmic reticulum stress and the inflammatory basis of metabolic disease. Cell 2010, 140:900-917.
22. Huang J., et al. The TSC1-TSC2 complex is required for proper activation of mTOR complex 2. Mol. Cell. Biol. 2008, 28:41014115.
23. Inoki K., et al. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev. 2003, 17:1829-1834.
24. Kang Y., et al. The TSC1 and TSC2 tumor suppressors are required for proper ER stress response and protect cells from ER stress-induced apoptosis. Cell Death Differ. 2010, 1-12. Epublication.
25. Kenerson H., et al. Effects of rapamycin in the Eker rat model of tuberous sclerosis complex. Pediatr. Res. 2005, 51:67-75.
26. Kern J.K. Purkinje cell vulnerability and autism: a possible etiological connection. Brain Dev. 2003, 25:377-382.
27. Kyuhou S., et al. Emergence of endoplasmic reticulum stress and activated microglia in Purkinje cell degeneration mice. Neurosci. Lett. 2006, 396:91-96.
28. Lee J., et al. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature 2006, 443:50-55.
29. Lee L., et al. Efficacy of rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. Genes Chromosome Cancer 2005, 42:213-227.
30. Lein E., et al. Genome-wide atlas of gene expression in the adult mouse brain. Nature 2007, 445.
31. Lin M., Beal M. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 2006, 443:787-795.
32. Maattenen P., et al. ERp57 and PDI: multifunctional protein disulfide isomerases with similar domain architectures but differing substrate-partner associations. Biochem. Cell Biol. 2006, 84:881-889.
33. Marcotte L., Crino P. The neurobiology of tuberous sclerosis complex. Neuromolecular Med. 2006, 8:531-546.
34. Meikle L., et al. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J. Neurosci. 2008, 28:5422-5432.
35. Michaelidis T., et al. Inactivation of bcl-2 results in progressive degeneration of motoneurons, sympathetic and sensory neurons during early postnatal development. Neuron 1996, 17:75-89.
36. Ni M., Lee A. ER chaperones in mammalian development. FEBS Lett. 2007, 581:3641-3651.
37. Ohmori H., et al. Effects of low-dose phenytoin administered to newborn mice on developing cerebellum. Neurotoxicol. Teratol. 1997, 19:205-211.
38. Oyadomari S., Mori M. Roles of CHOP/GADD153 in endoplasmic reticulum stress. Cell Death Differ. 2004, 11:381-389.
39. Ozcan U., et al. Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. Mol. Cell 2008, 29:541-551.
40. Palmen S., et al. Neuropathologic findings in autism. Brain 2004, 131:2572-2583.
41. Plank T., et al. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res. 1998, 58:4766-4770.
42. Ritvo E., et al. Lower Purkinje cell counts in the cerebella of four autistic subjects: initial findings of the UCLA-NSAC autopsy research reports. Am. J. Psychiatry 1986, 143:862-866.
43. Sacco T., et al. Mouse brain expression patterns of Spg7, Afg3I1, and Afg3I2 transcripts, encoding for the mitochondrial m-AAA protease. BMC Neurosci. 2010, 11:1-9.
44. Sarbassov D., et al. Growing roles for the mTOR pathway. Curr. Opin. Cell Biol. 2005, 17:596-603.
45. Sarna J., Hawkes R. Patterned Purkinje cell death in the cerebellum. Prog. Neurobiol. 2003, 70:473-507.
46. Suzuki T., et al. Tuberous sclerosis complex 2 loss-of-function mutation regulates reactive oxygen species production through Rac1 activation. Biochem. Biophys. Res. Commun. 2008, 368:132-137.
47. van Slegtenhorst M., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997, 277:805-808.
48. van Slegtenhorst M., et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum. Mol. Genet. 1998, 7:1053-1057.
49. Way S., et al. Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. Hum. Mol. Genet. 2009, 18:1252-1265.
50. Weber A.M., et al. Autism and the cerebellum: evidence from tuberous sclerosis. J. Autism Dev. Disord. 2000, 30:511-517.
51. Welsh J., et al. Why do Purkinje cells die so easily after global brain ischemia? Aldolase C, EAAT4, and the cerebellar contribution to posthypoxic myoclonus. Adv. Neurol. 2002, 89.
52. Woodrum C., et al. Comparison of three rapamycin dosing schedules in AJTsc2+/- mice and improved survival with angiogenesis or asparaginase treatment in mice with subcutaneous tuberous sclerosis related tumors. J. Transl. Med. 2010, 8:14.
53. Zeng L., et al. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann. Neurol. 2008, 63.
54. Zhang Y., et al. Rheb is a direct target of the tuberous sclerosis tumor suppressor proteins. Nat. Cell Biol. 2003, 5.
55. Zhao L., et al. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP. Nat. Genet. 2005, 37:974-979.
56. Zhao L., et al. Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjogren syndrome. Hum. Mol. Genet. 2010, 19:25-35.
57. Zhu Y., et al. Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 2002, 296:920-922.