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Items: 1 to 20 of 98

1.

The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression.

Lin CH, Chen CM, Hou YT, Wu YR, Hsieh-Li HM, Su MT, Lee-Chen GJ.

Hum Genet. 2010 Aug;128(2):205-12. doi: 10.1007/s00439-010-0843-2. Epub 2010 Jun 9.

PMID:
20533062
2.

Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.

O'Hearn EE, Hwang HS, Holmes SE, Rudnicki DD, Chung DW, Seixas AI, Cohen RL, Ross CA, Trojanowski JQ, Pletnikova O, Troncoso JC, Margolis RL.

Mov Disord. 2015 Nov;30(13):1813-1824. doi: 10.1002/mds.26348. Epub 2015 Sep 4.

3.

Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B.

Srivastava AK, Takkar A, Garg A, Faruq M.

Brain. 2017 Jan;140(1):27-36. doi: 10.1093/brain/aww269. Epub 2016 Nov 17.

PMID:
27864267
4.

Spinocerebellar ataxia type 12.

O'Hearn E, Holmes SE, Margolis RL.

Handb Clin Neurol. 2012;103:535-47. doi: 10.1016/B978-0-444-51892-7.00034-6. Review.

PMID:
21827912
5.

SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia.

Holmes SE, Hearn EO, Ross CA, Margolis RL.

Brain Res Bull. 2001 Oct-Nov 1;56(3-4):397-403. Review.

PMID:
11719278
6.

PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications.

Chen CM, Hou YT, Liu JY, Wu YR, Lin CH, Fung HC, Hsu WC, Hsu Y, Lee SH, Hsieh-Li HM, Su MT, Chen ST, Lane HY, Lee-Chen GJ.

Am J Med Genet B Neuropsychiatr Genet. 2009 Jan 5;150B(1):124-9. doi: 10.1002/ajmg.b.30785.

PMID:
18484086
7.

Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12.

Dong Y, Wu JJ, Wu ZY.

Parkinsonism Relat Disord. 2015 Apr;21(4):398-401. doi: 10.1016/j.parkreldis.2015.01.006. Epub 2015 Jan 17.

PMID:
25634432
8.

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F.

Arch Neurol. 2004 May;61(5):727-33.

PMID:
15148151
9.

Spinocerebellar ataxia type 12: clues to pathogenesis.

Cohen RL, Margolis RL.

Curr Opin Neurol. 2016 Dec;29(6):735-742. Review.

PMID:
27748686
10.

Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.

Sato K, Yabe I, Fukuda Y, Soma H, Nakahara Y, Tsuji S, Sasaki H.

Arch Neurol. 2010 Oct;67(10):1257-62. doi: 10.1001/archneurol.2010.231.

PMID:
20937954
11.

The PP2A-Aβ gene is regulated by multiple transcriptional factors including Ets-1, SP1/SP3, and RXRα/β.

Liu J, Ji W, Sun S, Zhang L, Chen HG, Mao Y, Liu L, Zhang X, Gong L, Deng M, Chen L, Han WJ, Chen PC, Hu WF, Hu X, Woodward Z, Liu WB, Xiao YM, Liang SP, Liu Y, Liu SJ, Li DW.

Curr Mol Med. 2012 Sep;12(8):982-94.

PMID:
22827437
12.

Evidence of a common founder for SCA12 in the Indian population.

Bahl S, Virdi K, Mittal U, Sachdeva MP, Kalla AK, Holmes SE, O'Hearn E, Margolis RL, Jain S, Srivastava AK, Mukerji M.

Ann Hum Genet. 2005 Sep;69(Pt 5):528-34.

13.

[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han].

Wang J, Xu Q, Lei L, Shen L, Jiang H, Li X, Zhou Y, Yi J, Zhou J, Yan X, Pan Q, Xia K, Tang B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):620-5. doi: 10.3760/cma.j.issn.1003-9406.2009.06.004. Chinese.

PMID:
19953482
14.

Association between CAG repeat length in the PPP2R2B gene and Alzheimer disease in the Japanese population.

Kimura R, Morihara T, Kudo T, Kamino K, Takeda M.

Neurosci Lett. 2011 Jan 10;487(3):354-7. doi: 10.1016/j.neulet.2010.10.055. Epub 2010 Oct 26.

PMID:
21029765
15.

The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission.

Dagda RK, Merrill RA, Cribbs JT, Chen Y, Hell JW, Usachev YM, Strack S.

J Biol Chem. 2008 Dec 26;283(52):36241-8. doi: 10.1074/jbc.M800989200. Epub 2008 Oct 21.

16.

Transcriptional regulation of PP2A-A alpha is mediated by multiple factors including AP-2alpha, CREB, ETS-1, and SP-1.

Chen HG, Han WJ, Deng M, Qin J, Yuan D, Liu JP, Xiao L, Gong L, Liang S, Zhang J, Liu Y, Li DW.

PLoS One. 2009 Sep 14;4(9):e7019. doi: 10.1371/journal.pone.0007019.

17.

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.

Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, Yang DK, Li C, Hsieh M.

Acta Neurol Scand. 2004 May;109(5):355-60.

PMID:
15080863
18.

A novel cis-acting element controlling the rat CYP2D5 gene and requiring cooperativity between C/EBP beta and an Sp1 factor.

Lee YH, Yano M, Liu SY, Matsunaga E, Johnson PF, Gonzalez FJ.

Mol Cell Biol. 1994 Feb;14(2):1383-94.

19.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.

Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A.

Nat Genet. 1996 Nov;14(3):285-91.

PMID:
8896557
20.

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