Associated Papers
Novel mutation in exon11 of PRKCG (SCA14): A case report.
Sun R et al.
Frontiers in Genetics, 2023
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
De Michele G et al.
Journal of Neurology, 2022
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
Schmitz-Hübsch T et al.
Annals of Clinical and Translational Neurology, 2021
A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCγ Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior.
Shimobayashi E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
Riso V et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation.
Wong MMK et al.
Acta Neuropathologica Communications, 2018
Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14.
Nakazono A et al.
The Journal of Biological Chemistry, 2018
Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.
Takahashi H et al.
Human Molecular Genetics, 2015
Elucidation of the molecular mechanism and exploration of novel therapeutics for spinocerebellar ataxia caused by mutant protein kinase Cγ.
Seki T et al.
Journal of Pharmacological Sciences, 2011
Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.
Seki T et al.
The Journal of Biological Chemistry, 2010
Congo red, an amyloid-inhibiting compound, alleviates various types of cellular dysfunction triggered by mutant protein kinase cγ that causes spinocerebellar ataxia type 14 (SCA14) by inhibiting oligomerization and aggregation.
Seki T et al.
Journal of Pharmacological Sciences, 2010
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.
Asai H et al.
Human Molecular Genetics, 2009
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells.
Seki T et al.
Neurobiology of Disease, 2009
Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function.
Doran G et al.
Biochemical and Biophysical Research Communications, 2008
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
Adachi N et al.
The Journal of Biological Chemistry, 2008
Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress.
Seki T et al.
The European Journal of Neuroscience, 2007
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.
Nolte D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
Hiramoto K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
Fahey MC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Klebe S et al.
Annals of Neurology, 2005
Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death.
Seki T et al.
The Journal of Biological Chemistry, 2005
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.
Verbeek DS et al.
Brain : a Journal of Neurology, 2005
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
Alonso I et al.
Journal of Human Genetics, 2005