Associated Papers
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
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
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
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
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
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
Alonso I et al.
Journal of Human Genetics, 2005
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
Yabe I et al.
Archives of Neurology, 2003
Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype.
Nashi S et al.
Annals of Indian Academy of Neurology, 0