| 1 | PPP2R2B, SCA12
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| Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12).
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| Wang YC, Lee CM, Lee LC, Tung LC, Hsieh-Li HM, Lee-Chen GJ, Su MT.
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| J Biol Chem 286(24):21742-54. Epub 2011 Apr 6.
2011
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| 2 | SCA12
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| Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
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| Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C, Gabellini A, Rinaldi R, Miccoli S, Grosso E, Bellati MC, Orsi L, Migone N, Brusco A.
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| Mov Disord 25(9):1269-73.PMID: 20629122 2010
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| 3 | PPP2R2B, SCA12
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| The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression.
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| Lin CH, Chen CM, Hou YT, Wu YR, Hsieh-Li HM, Su MT, Lee-Chen GJ.
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| Hum Genet 128(2):205-12. Epub 2010 Jun 9.PMID: 20533062 2010
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| 4 | PPP2R2B, SCA12
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| The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission.
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| Dagda RK, Merrill RA, Cribbs JT, Chen Y, Hell JW, Usachev YM, Strack S.
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| J Biol Chem 283(52):36241-8. Epub 2008 Oct 21.
2008
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| 5 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
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| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 6 | PPP2R2B, SCA12
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| Why is SCA12 different from other SCAs?
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| Holmes SE, O'Hearn E, Margolis RL.
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| Cytogenet Genome Res 100(1-4):189-97. 2003
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| 7 | SCA12
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| SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.
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| O'Hearn E, Holmes SE, Calvert PC, Ross CA, Margolis RL.
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| Neurology 56(3):299-303. 2001
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| 8 | PPP2R2B, SCA12
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| The SCA12 mutation as a rare cause of spinocerebellar ataxia
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| Cholfin JA, Sobrido MJ, Perlman S, Pulst SM, Geschwind DH.
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| Arch Neurol 58(11):1833-5. 2001
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| 9 | PPP2R2B, SCA12
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| SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia
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| Holmes SE, Hearn EO, Ross CA, Margolis RL.
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| Brain Res Bull 56(3-4):397-403. Review. 2001
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| 10 | SCA12, PPP2R2B
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| Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.
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| Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ,Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, AnanthU, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, MargolisRL.
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| Nat Genet 23(4):391-2. No abstract available. 1999
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