Associated Papers
Pathogenicity analysis of three SCA14-associated missense mutations in PRKCG gene of Chinese patients with ataxia.
Yuan H et al.
Gene, 2025
Sex specific disruptions in Protein Kinase Cγ signaling in a mouse model of Spinocerebellar Ataxia Type 14.
Wolfe SA et al.
Biorxiv : the Preprint Server for Biology, 2025
Novel mutation in exon11 of PRKCG (SCA14): A case report.
Sun R et al.
Frontiers in Genetics, 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
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
Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).
Prestori F et al.
International Journal of Molecular Sciences, 2019
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 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
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
Shimobayashi E et al.
Current Neuropharmacology, 2018
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
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Németh AH et al.
Brain : a Journal of Neurology, 2013
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.
Sailer A et al.
Neurology, 2012
Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo.
Shuvaev AN et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
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
Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse.
Zhang Y et al.
Biochemical and Biophysical Research Communications, 2009
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
Protection from ataxia-linked apoptosis by gap junction inhibitors.
Lin D et al.
Biochemical and Biophysical Research Communications, 2007
Codon 101 of PRKCG, a preferential mutation site in SCA14.
Nolte D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions.
Lin D et al.
Experimental Eye Research, 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
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
Dalski A et al.
Journal of Neurology, 2006
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
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
Alonso I et al.
Journal of Human Genetics, 2005
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.
van de Warrenburg BP et al.
Neurology, 2003
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
Chen DH et al.
American Journal of Human Genetics, 2003
Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype.
Nashi S et al.
Annals of Indian Academy of Neurology, 0