Literature DB >> 10581021

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.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10581021     DOI： 10.1038/70493

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  103 in total

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

Authors:  Chih-Hsin Lin; Chiung-Mei Chen; Yi-Ting Hou; Yih-Ru Wu; Hsiu-Mei Hsieh-Li; Ming-Tsan Su; Guey-Jen Lee-Chen
Journal:  Hum Genet       Date:  2010-06-09       Impact factor: 4.132

2.  Protein phosphatase 2A inhibition induces cerebellar long-term depression and declustering of synaptic AMPA receptor.

Authors:  T Launey; S Endo; R Sakai; J Harano; M Ito
Journal:  Proc Natl Acad Sci U S A       Date:  2003-12-29       Impact factor: 11.205

Review 3.  Cell signaling and mitochondrial dynamics: Implications for neuronal function and neurodegenerative disease.

Authors:  Theodore J Wilson; Andrew M Slupe; Stefan Strack
Journal:  Neurobiol Dis       Date:  2012-01-24       Impact factor: 5.996

Review 4.  Recent advances in the genetics of cerebellar ataxias.

Authors:  Anna Sailer; Henry Houlden
Journal:  Curr Neurol Neurosci Rep       Date:  2012-06       Impact factor: 5.081

5.  Gene expression profile following stable expression of the cellular prion protein.

Authors:  Jun-ichi Satoh; Takashi Yamamura
Journal:  Cell Mol Neurobiol       Date:  2004-12       Impact factor: 5.046

6.  Unfolding-resistant translocase targeting: a novel mechanism for outer mitochondrial membrane localization exemplified by the Bbeta2 regulatory subunit of protein phosphatase 2A.

Authors:  Ruben K Dagda; Chris A Barwacz; J Thomas Cribbs; Stefan Strack
Journal:  J Biol Chem       Date:  2005-05-27       Impact factor: 5.157

Review 7.  Non-coding RNAs in the nervous system.

Authors:  Mark F Mehler; John S Mattick
Journal:  J Physiol       Date:  2006-06-29       Impact factor: 5.182

Review 8.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

Review 9.  The spinocerebellar ataxias: order emerges from chaos.

Authors:  Russell L Margolis
Journal:  Curr Neurol Neurosci Rep       Date:  2002-09       Impact factor: 5.081

10.  Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.

Authors:  Yusaku Shimizu; Kunihiro Yoshida; Tomomi Okano; Shinji Ohara; Takao Hashimoto; Yoshimitsu Fukushima; Shu-Ichi Ikeda
Journal:  J Hum Genet       Date:  2004-10-08       Impact factor: 3.172
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.