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Results: 1 to 20 of 101

1.

Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.

Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM.

Cell. 2013 Jul 3;154(1):118-33. doi: 10.1016/j.cell.2013.05.059.

PMID:
23827678
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.

Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM.

J Neurosci. 2000 Sep 1;20(17):6394-403.

PMID:
10964945
[PubMed - indexed for MEDLINE]
Free Article
3.

Molecular pathogenesis of spinocerebellar ataxia type 6.

Kordasiewicz HB, Gomez CM.

Neurotherapeutics. 2007 Apr;4(2):285-94. Review.

PMID:
17395139
[PubMed - indexed for MEDLINE]
4.

Spinocerebellar ataxia type 6.

Solodkin A, Gomez CM.

Handb Clin Neurol. 2012;103:461-73. doi: 10.1016/B978-0-444-51892-7.00029-2. Review.

PMID:
21827907
[PubMed - indexed for MEDLINE]
5.

Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum.

Takahashi M, Ishikawa K, Sato N, Obayashi M, Niimi Y, Ishiguro T, Yamada M, Toyoshima Y, Takahashi H, Kato T, Takao M, Murayama S, Mori O, Eishi Y, Mizusawa H.

Neuropathology. 2012 Dec;32(6):595-603. doi: 10.1111/j.1440-1789.2012.01302.x. Epub 2012 Mar 7.

PMID:
22393909
[PubMed - indexed for MEDLINE]
6.

Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.

Tsou WL, Soong BW, Paulson HL, Rodríguez-Lebrón E.

Neurobiol Dis. 2011 Sep;43(3):533-42. doi: 10.1016/j.nbd.2011.04.016. Epub 2011 Apr 29.

PMID:
21550405
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

[Molecular physiopathology of the spinocerebellar ataxia type 6 (SCA6)].

Cervantes-Kardasch VH, García-Martínez E.

Rev Invest Clin. 2004 May-Jun;56(3):368-74. Review. Spanish.

PMID:
15612520
[PubMed - indexed for MEDLINE]
8.

[SCA6: From gene identification to recent progress on pathogenesis].

Watase K, Ishikawa K, Mizusawa H.

Rinsho Shinkeigaku. 2010 Nov;50(11):858-60. Review. Japanese.

PMID:
21921472
[PubMed - indexed for MEDLINE]
9.

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.

Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP.

Brain. 2005 Oct;128(Pt 10):2297-303. Epub 2005 Jul 6.

PMID:
16000334
[PubMed - indexed for MEDLINE]
Free Article
10.

Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells.

Ishikawa K, Owada K, Ishida K, Fujigasaki H, Shun Li M, Tsunemi T, Ohkoshi N, Toru S, Mizutani T, Hayashi M, Arai N, Hasegawa K, Kawanami T, Kato T, Makifuchi T, Shoji S, Tanabe T, Mizusawa H.

Neurology. 2001 Jun 26;56(12):1753-6.

PMID:
11425948
[PubMed - indexed for MEDLINE]
11.

Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.

Shah AG, Friedman MJ, Huang S, Roberts M, Li XJ, Li S.

Hum Mol Genet. 2009 Nov 1;18(21):4141-52. doi: 10.1093/hmg/ddp363. Epub 2009 Jul 30.

PMID:
19643914
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?

Frontali M.

Brain Res Bull. 2001 Oct-Nov 1;56(3-4):227-31. Review.

PMID:
11719255
[PubMed - indexed for MEDLINE]
13.

Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.

Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW.

J Neurosci. 2001 Dec 1;21(23):9185-93.

PMID:
11717352
[PubMed - indexed for MEDLINE]
Free Article
14.

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.

Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Toru S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tanabe T, Mizusawa H.

Hum Mol Genet. 1999 Jul;8(7):1185-93.

PMID:
10369863
[PubMed - indexed for MEDLINE]
Free Article
15.

A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.

Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C.

Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29.

PMID:
24486772
[PubMed - indexed for MEDLINE]
16.

Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6.

Kubodera T, Yokota T, Ohwada K, Ishikawa K, Miura H, Matsuoka T, Mizusawa H.

Neurosci Lett. 2003 Apr 24;341(1):74-8.

PMID:
12676347
[PubMed - indexed for MEDLINE]
17.

Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.

Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, Unno T, Sun Y, Kasai S, Watanabe M, Gomez CM, Mizusawa H, Tsien RW, Zoghbi HY.

Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11987-92. doi: 10.1073/pnas.0804350105. Epub 2008 Aug 7.

PMID:
18687887
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.

Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabási AL, Zoghbi HY.

Hum Mol Genet. 2011 Feb 1;20(3):510-27. doi: 10.1093/hmg/ddq496. Epub 2010 Nov 15.

PMID:
21078624
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.

Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, Sato N, Sakamoto M, Fujigasaki H, Tsuruta F, Dolmetsch R, Arai T, Sasaki H, Nagashima K, Kato T, Yamada M, Takahashi H, Hashizume Y, Mizusawa H.

Acta Neuropathol. 2010 Apr;119(4):447-64. doi: 10.1007/s00401-009-0630-0. Epub 2009 Dec 31.

PMID:
20043227
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.

Saegusa H, Wakamori M, Matsuda Y, Wang J, Mori Y, Zong S, Tanabe T.

Mol Cell Neurosci. 2007 Feb;34(2):261-70. Epub 2006 Dec 22.

PMID:
17188510
[PubMed - indexed for MEDLINE]
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