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
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
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report.
Duggirala N et al.
Journal of Medical Case Reports, 2023
Novel mutation in exon11 of PRKCG (SCA14): A case report.
Sun R et al.
Frontiers in Genetics, 2023
Comparison of two families with and without ataxia harboring novel variants in PRKCG.
Tada Y et al.
Journal of Human Genetics, 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
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
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.
Perkins E et al.
The Journal of Physiology, 2016
Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.
Takahashi H et al.
Human Molecular Genetics, 2015
Deregulation of the actin cytoskeleton and macropinocytosis in response to phorbol ester by the mutant protein kinase C gamma that causes spinocerebellar ataxia type 14.
Yamamoto K et al.
Frontiers in Physiology, 2014
Mutant γPKC that causes spinocerebellar ataxia type 14 upregulates Hsp70, which protects cells from the mutant's cytotoxicity.
Ogawa K et al.
Biochemical and Biophysical Research Communications, 2013
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
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
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy.
Yamamoto K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 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
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse.
Zhang Y et al.
Biochemical and Biophysical Research Communications, 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
Protection from ataxia-linked apoptosis by gap junction inhibitors.
Lin D et al.
Biochemical and Biophysical Research Communications, 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
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
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
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