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Literature DB >> 16649092

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

Andreas Dalski, Beate Mitulla, Katrin Bürk, Christoph Schattenfroh, Eberhard Schwinger, Christine Zühlke.

Abstract

Entities: Chemical Disease Gene Mutation

Mesh：

Substances：

Year: 2006 PMID： 16649092 DOI： 10.1007/s00415-006-0209-9

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

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8 in total

1. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.

Authors: D S Verbeek; M A Knight; G G Harmison; K H Fischbeck; B W Howell
Journal: Brain Date: 2004-12-23 Impact factor: 13.501

2. 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

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. The clinical and genetic spectrum of spinocerebellar ataxia 14.

Authors: D-H Chen; 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
Journal: Neurology Date: 2005-04-12 Impact factor: 9.910

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. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Authors: Giovanni Stevanin; Valérie Hahn; Ebba Lohmann; Naima Bouslam; Michel Gouttard; Caroline Soumphonphakdy; Marie-Laure Welter; Elisabeth Ollagnon-Roman; Arnaud Lemainque; Merle Ruberg; Alexis Brice; Alexandra Durr
Journal: Arch Neurol Date: 2004-08

7. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.

Authors: Ichiro Yabe; Hidenao Sasaki; Dong-Hui Chen; Wendy H Raskind; Thomas D Bird; Isao Yamashita; Shoji Tsuji; Seiji Kikuchi; Kunio Tashiro
Journal: Arch Neurol Date: 2003-12

8. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.

Authors: B P C van de Warrenburg; D S Verbeek; S J Piersma; F A M Hennekam; P L Pearson; N V A M Knoers; H P H Kremer; R J Sinke
Journal: Neurology Date: 2003-12-23 Impact factor: 9.910

8 in total

14 in total

1. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Authors: Katherine E Hekman; Guo-Yun Yu; Christopher D Brown; Haipeng Zhu; Xiaofei Du; Kristina Gervin; Dag Erik Undlien; April Peterson; Giovanni Stevanin; H Brent Clark; Stefan M Pulst; Thomas D Bird; Kevin P White; Christopher M Gomez
Journal: Hum Mol Genet Date: 2012-09-21 Impact factor: 6.150

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

Authors: Takehiro Ueda; Tsuneyoshi Seki; Kimitaka Katanazaka; Kenji Sekiguchi; Kazuhiro Kobayashi; Fumio Kanda; Tatsushi Toda
Journal: J Neurol Date: 2013-04-21 Impact factor: 4.849

Review 3. Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration.

Authors: Elan D Louis; Phyllis L Faust
Journal: Cerebellum Date: 2020-12 Impact factor: 3.847

4. 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

5. Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.

Authors: Takahiro Seki; Nana Abe-Seki; Takahiro Kikawada; Hideyuki Takahashi; Kazuhiro Yamamoto; Naoko Adachi; Shigeru Tanaka; Izumi Hide; Naoaki Saito; Norio Sakai
Journal: J Biol Chem Date: 2010-08-12 Impact factor: 5.157

6. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.

Authors: Rehana Basri; Ichiro Yabe; Hiroyuki Soma; Hidenao Sasaki
Journal: J Hum Genet Date: 2007-09-05 Impact factor: 3.172

Review 10. The spinocerebellar ataxias.

Authors: Henry L Paulson
Journal: J Neuroophthalmol Date: 2009-09 Impact factor: 3.042