Associated Papers
Age-Progressive Synaptic and Axonal Dysregulation Induced by Purkinje Cell-Targeted AAV Expression of SCA14 PKCγ in Mice.
Adachi N et al.
Journal of Neurochemistry, 2025
SCA14-Associated PKCγ-G118D Mutant Exhibits a Detrimental Effect on Cerebellar Purkinje Cell Dendritic Growth.
Wu QW et al.
International Journal of Molecular Sciences, 2025
Novel mutation in exon11 of PRKCG (SCA14): A case report.
Sun R et al.
Frontiers in Genetics, 2023
Viewpoint: spinocerebellar ataxias as diseases of Purkinje cell dysfunction rather than Purkinje cell loss.
Kapfhammer JP et al.
Frontiers in Molecular Neuroscience, 2023
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.
Pilo CA et al.
Science Signaling, 2022
The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint.
Wu QW et al.
International Journal of Molecular Sciences, 2022
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
Two Sides of the Same Coin: Protein Kinase C γ in Cancer and Neurodegeneration.
Pilo CA et al.
Frontiers in Cell and Developmental Biology, 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
PKCγ-Mediated Phosphorylation of CRMP2 Regulates Dendritic Outgrowth in Cerebellar Purkinje Cells.
Winkler SC et al.
Molecular Neurobiology, 2020
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
Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias.
Robinson KJ et al.
Frontiers in Neuroscience, 2020
Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).
Prestori F et al.
International Journal of Molecular Sciences, 2019
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
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
Shimobayashi E et al.
Current Neuropharmacology, 2018
Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14.
Shimobayashi E et al.
Molecular Brain, 2017
Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.
Takahashi H et al.
Human Molecular Genetics, 2015
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14.
Ji J et al.
Neurobiology of Disease, 2014
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.
Sailer A et al.
Neurology, 2012
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
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
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
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Klebe S et al.
Annals of Neurology, 2005
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
Alonso I et al.
Journal of Human Genetics, 2005