Literature DB >> 15824357

The clinical and genetic spectrum of spinocerebellar ataxia 14.

D-H Chen1, P J Cimino, L P W Ranum, H Y Zoghbi, I Yabe, L Schut, R L Margolis, H P Lipe, A Feleke, M Matsushita, J Wolff, C Morgan, D Lau, M Fernandez, H Sasaki, W H Raskind, T D Bird.   

Abstract

Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.

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Year:  2005        PMID： 15824357     DOI： 10.1212/01.WNL.0000156801.64549.6B

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  26 in total

1.  APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

Authors:  Marialuisa Quadri; Annalisa Vetro; Viviana Gismondi; Monica Marabelli; Lucio Bertario; Paola Sala; Liliana Varesco; Orsetta Zuffardi; Guglielmina N Ranzani
Journal:  Fam Cancer       Date:  2015-03       Impact factor: 2.375

2.  Cerebellar neurochemical alterations in spinocerebellar ataxia type 14 appear to include glutathione deficiency.

Authors:  Sarah Doss; Jan Leo Rinnenthal; Tanja Schmitz-Hübsch; Alexander U Brandt; Sebastian Papazoglou; Silke Lux; Stephan Maul; Jens Würfel; Matthias Endres; Thomas Klockgether; Martina Minnerop; Friedemann Paul
Journal:  J Neurol       Date:  2015-06-05       Impact factor: 4.849

3.  A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.

Authors:  Isabel Alonso; Cristina Costa; André Gomes; Anabela Ferro; Ana I Seixas; Sérgio Silva; Vitor Tedim Cruz; Paula Coutinho; Jorge Sequeiros; Isabel Silveira
Journal:  J Hum Genet       Date:  2005-09-28       Impact factor: 3.172

4.  Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.

Authors:  Andreas Dalski; Beate Mitulla; Katrin Bürk; Christoph Schattenfroh; Eberhard Schwinger; Christine Zühlke
Journal:  J Neurol       Date:  2006-04-28       Impact factor: 4.849

5.  Carbonic Anhydrase 8 Expression in Purkinje Cells Is Controlled by PKCγ Activity and Regulates Purkinje Cell Dendritic Growth.

Authors:  Etsuko Shimobayashi; Wolfgang Wagner; Josef P Kapfhammer
Journal:  Mol Neurobiol       Date:  2015-09-23       Impact factor: 5.590

6.  A Japanese case of SCA14 with the Gly128Asp mutation.

Authors:  Hiroshi Morita; Kunihiro Yoshida; Kayo Suzuki; Shu-Ichi Ikeda
Journal:  J Hum Genet       Date:  2006-09-22       Impact factor: 3.172

7.  Protection from ataxia-linked apoptosis by gap junction inhibitors.

Authors:  Dingbo Lin; Dolores J Takemoto
Journal:  Biochem Biophys Res Commun       Date:  2007-08-27       Impact factor: 3.575

8.  Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse.

Authors:  Yunong Zhang; Adam Snider; Lloyd Willard; Dolores J Takemoto; Dingbo Lin
Journal:  Biochem Biophys Res Commun       Date:  2008-12-03       Impact factor: 3.575

9.  Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions.

Authors:  Dingbo Lin; Denton Shanks; Om Prakash; Dolores J Takemoto
Journal:  Exp Eye Res       Date:  2007-03-31       Impact factor: 3.467

10.  Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

Authors:  Giovanni Stevanin; Alexis Brice
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847
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