This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

. 1999 Dec;23(4):391-2.

doi: 10.1038/70493.

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12

S E Holmes, E E O'Hearn, M G McInnis, D A Gorelick-Feldman, J J Kleiderlein, C Callahan, N G Kwak, R G Ingersoll-Ashworth, M Sherr, A J Sumner, A H Sharp, U Ananth, W K Seltzer, M A Boss, A M Vieria-Saecker, J T Epplen, O Riess, C A Ross, R L Margolis

PMID: 10581021
DOI: 10.1038/70493

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12

S E Holmes et al. Nat Genet. 1999 Dec.

. 1999 Dec;23(4):391-2.

doi: 10.1038/70493.

Authors

S E Holmes, E E O'Hearn, M G McInnis, D A Gorelick-Feldman, J J Kleiderlein, C Callahan, N G Kwak, R G Ingersoll-Ashworth, M Sherr, A J Sumner, A H Sharp, U Ananth, W K Seltzer, M A Boss, A M Vieria-Saecker, J T Epplen, O Riess, C A Ross, R L Margolis

PMID: 10581021
DOI: 10.1038/70493

No abstract available

PubMed Disclaimer

Similar articles

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.
Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J. Sułek A, et al. J Appl Genet. 2004;45(1):101-5. J Appl Genet. 2004. PMID: 14960773
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H. Oda M, et al. Arch Neurol. 2004 Feb;61(2):209-12. doi: 10.1001/archneur.61.2.209. Arch Neurol. 2004. PMID: 14967767
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. Bahl S, et al. Ann Hum Genet. 2005 Sep;69(Pt 5):528-34. doi: 10.1046/j.1529-8817.2005.00173.x. Ann Hum Genet. 2005. PMID: 16138911
SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia.
Holmes SE, Hearn EO, Ross CA, Margolis RL. Holmes SE, et al. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):397-403. doi: 10.1016/s0361-9230(01)00596-2. Brain Res Bull. 2001. PMID: 11719278 Review.
[Molecular basis of spinocerebellar ataxias subtype caused by nucleotide repeat expansion in noncoding region].
Wang JL, Tang BS. Wang JL, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):293-6. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008. PMID: 18543219 Review. Chinese.

See all similar articles

Cited by

Therapeutic prospects for spinocerebellar ataxia type 2 and 3.
Bezprozvanny I, Klockgether T. Bezprozvanny I, et al. Drugs Future. 2009 Dec;34(12):10.1358/dof.2009.034.12.1443434. doi: 10.1358/dof.2009.034.12.1443434. Drugs Future. 2009. PMID: 26023252 Free PMC article.
Mechanisms of RNA-induced toxicity in CAG repeat disorders.
Nalavade R, Griesche N, Ryan DP, Hildebrand S, Krauss S. Nalavade R, et al. Cell Death Dis. 2013 Aug 1;4(8):e752. doi: 10.1038/cddis.2013.276. Cell Death Dis. 2013. PMID: 23907466 Free PMC article. Review.
The role of RNA and RNA processing in neurodegeneration.
Gallo JM, Jin P, Thornton CA, Lin H, Robertson J, D'Souza I, Schlaepfer WW. Gallo JM, et al. J Neurosci. 2005 Nov 9;25(45):10372-5. doi: 10.1523/JNEUROSCI.3453-05.2005. J Neurosci. 2005. PMID: 16280575 Free PMC article. Review. No abstract available.
Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?
Boivin M, Charlet-Berguerand N. Boivin M, et al. Front Genet. 2022 Feb 28;13:843014. doi: 10.3389/fgene.2022.843014. eCollection 2022. Front Genet. 2022. PMID: 35295941 Free PMC article. Review.
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.
Basri R, Yabe I, Soma H, Sasaki H. Basri R, et al. J Hum Genet. 2007;52(10):848-855. doi: 10.1007/s10038-007-0182-x. Epub 2007 Sep 5. J Hum Genet. 2007. PMID: 17805477

See all "Cited by" articles

Publication types

Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions

Associated data

Actions
- Search in PubMed
- Search in Nucleotide

Grants and funding

LinkOut - more resources

Full Text Sources
- Nature Publishing Group
Other Literature Sources
- The Lens - Patent Citations Database
Molecular Biology Databases
- BioCyc
- GlyGen glycoinformatics resource