Associated Papers
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
Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.
Hommersom MP et al.
Stem Cell Reviews and Reports, 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
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
Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.
Takahashi H et al.
Human Molecular Genetics, 2015
Computational neurobiology is a useful tool in translational neurology: the example of ataxia.
Brown SA et al.
Frontiers in Neuroscience, 2015
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Németh AH et al.
Brain : a Journal of Neurology, 2013
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
Codon 101 of PRKCG, a preferential mutation site in SCA14.
Nolte D 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
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.
Basri R et al.
Journal of Human Genetics, 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
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
Alonso I et al.
Journal of Human Genetics, 2005
Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype.
Nashi S et al.
Annals of Indian Academy of Neurology, 0