Associated Papers
Elevated Regulator of G Protein Signaling 8 (Rgs8) Expression in Cerebellar Purkinje Cells of a Non-Manifesting SCA14 Murine Line.
Wu QW et al.
Journal of Integrative Neuroscience, 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
The natural history of progressive myoclonus ataxia.
van der Veen S et al.
Neurobiology of Disease, 2024
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
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Rossi M et al.
Movement Disorders Clinical Practice, 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
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
Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14.
Ganos C et al.
Cerebellum (london, England), 2014
Molecular pathophysiology of neurodegenerative disease caused by γPKC mutations.
Sakai N et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry, 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
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.
Foncke EM et al.
Parkinsonism & Related Disorders, 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
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.
Miura S et al.
Clinical Neurology and Neurosurgery, 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
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling.
Verbeek DS et al.
Journal of Cell Science, 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
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.
Visser JE et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
A Japanese case of SCA14 with the Gly128Asp mutation.
Morita H et al.
Journal of Human Genetics, 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
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Verbeek DS et al.
Human Genetics, 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
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.
van de Warrenburg BP et al.
Neurology, 2003
Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype.
Nashi S et al.
Annals of Indian Academy of Neurology, 0