Literature DB >> 23604456

A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14.

Takehiro Ueda, Tsuneyoshi Seki, Kimitaka Katanazaka, Kenji Sekiguchi, Kazuhiro Kobayashi, Fumio Kanda, Tatsushi Toda.   

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Year:  2013        PMID: 23604456     DOI: 10.1007/s00415-013-6916-0

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  6 in total

Review 1.  Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Authors:  Alexandra Durr
Journal:  Lancet Neurol       Date:  2010-09       Impact factor: 44.182

2.  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

3.  New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Authors:  Stephan Klebe; Alexandra Durr; Alexander Rentschler; Valerie Hahn-Barma; Michael Abele; Naima Bouslam; Ludger Schöls; Pierre Jedynak; Sylvie Forlani; Elodie Denis; Christel Dussert; Yves Agid; Peter Bauer; Christoph Globas; Ullrich Wüllner; Alexis Brice; Olaf Riess; Giovanni Stevanin
Journal:  Ann Neurol       Date:  2005-11       Impact factor: 10.422

4.  SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.

Authors:  J Koht; G Stevanin; A Durr; E Mundwiller; A Brice; C M E Tallaksen
Journal:  Acta Neurol Scand       Date:  2011-03-21       Impact factor: 3.209

5.  Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Authors:  Dong-Hui Chen; Zoran Brkanac; Christophe L M J Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; P J Cimino; Thomas D Bird; Wendy H Raskind
Journal:  Am J Hum Genet       Date:  2003-03-17       Impact factor: 11.025

6.  Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.

Authors:  Naoko Adachi; Takeshi Kobayashi; Hideyuki Takahashi; Takumi Kawasaki; Yasuhito Shirai; Takehiko Ueyama; Toshio Matsuda; Takahiro Seki; Norio Sakai; Naoaki Saito
Journal:  J Biol Chem       Date:  2008-05-22       Impact factor: 5.157

  6 in total
  3 in total

1.  Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14.

Authors:  Aoi Nakazono; Naoko Adachi; Hideyuki Takahashi; Takahiro Seki; Daizo Hamada; Takehiko Ueyama; Norio Sakai; Naoaki Saito
Journal:  J Biol Chem       Date:  2018-08-09       Impact factor: 5.157

2.  Computational neurobiology is a useful tool in translational neurology: the example of ataxia.

Authors:  Sherry-Ann Brown; Louise D McCullough; Leslie M Loew
Journal:  Front Neurosci       Date:  2015-01-21       Impact factor: 4.677

3.  Neuroprotective effects of resveratrol and epigallocatechin gallate polyphenols are mediated by the activation of protein kinase C gamma.

Authors:  Caroline Menard; Stéphane Bastianetto; Rémi Quirion
Journal:  Front Cell Neurosci       Date:  2013-12-26       Impact factor: 5.505

  3 in total

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