A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
出版年份 2020 全文链接
标题
A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
作者
关键词
-
出版物
Frontiers in Genetics
Volume 11, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2020-02-27
DOI
10.3389/fgene.2020.00061
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- TMEM25 modulates neuronal excitability and NMDA receptor subunit NR2B degradation
- (2019) Haiqing Zhang et al. JOURNAL OF CLINICAL INVESTIGATION
- Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors
- (2019) Kyoko Chiba et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Inhibition of Nwd1 activity attenuates neuronal hyperexcitability and GluN2B phosphorylation in the hippocampus
- (2019) Qin Yang et al. EBioMedicine
- Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca 2+ /CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites
- (2018) Riccardo Stucchi et al. Cell Reports
- Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
- (2017) Zafar Iqbal et al. PLoS One
- Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene
- (2017) Chong Kun Cheon et al. Scientific Reports
- Primer Part 1-The building blocks of epilepsy genetics
- (2016) Ingo Helbig et al. EPILEPSIA
- Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement
- (2016) Leslie Hotchkiss et al. JOURNAL OF CHILD NEUROLOGY
- The genetic landscape of the epileptic encephalopathies of infancy and childhood
- (2016) Amy McTague et al. LANCET NEUROLOGY
- Reducing premature KCC2 expression rescues seizure susceptibility and spine morphology in atypical febrile seizures
- (2016) Patricia N. Awad et al. NEUROBIOLOGY OF DISEASE
- Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
- (2016) Hisham Megahed et al. Orphanet Journal of Rare Diseases
- Transport of a kinesin-cargo pair along microtubules into dendritic spines undergoing synaptic plasticity
- (2016) Derrick P. McVicker et al. Nature Communications
- Autoinhibition of a Neuronal Kinesin UNC-104/KIF1A Regulates the Size and Density of Synapses
- (2016) Shinsuke Niwa et al. Cell Reports
- Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis
- (2015) Andrea Citterio et al. JOURNAL OF NEUROLOGY
- Describing the genetic architecture of epilepsy through heritability analysis
- (2014) Doug Speed et al. BRAIN
- Antagomirs targeting microRNA-134 increase hippocampal pyramidal neuron spine volume in vivo and protect against pilocarpine-induced status epilepticus
- (2014) Eva M. Jimenez-Mateos et al. Brain Structure & Function
- De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
- (2014) Jae-Ran Lee et al. HUMAN MUTATION
- Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
- (2014) Julian Schubert et al. NATURE GENETICS
- KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
- (2012) Stephan Klebe et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Motor Protein KIF1A Is Essential for Hippocampal Synaptogenesis and Learning Enhancement in an Enriched Environment
- (2012) Makoto Kondo et al. NEURON
- Dendritic spine pathology in epilepsy: Cause or consequence?
- (2012) M. Wong et al. NEUROSCIENCE
- The CC1-FHA Tandem as a Central Hub for Controlling the Dimerization and Activation of Kinesin-3 KIF1A
- (2012) Lin Huo et al. STRUCTURE
- KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
- (2011) Jean-Baptiste Rivière et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
- (2010) Anne T. Berg et al. EPILEPSIA
- Spontaneous Seizures and Altered Gene Expression in GABA Signaling Pathways in a mind bomb Mutant Zebrafish
- (2010) G. A. Hortopan et al. JOURNAL OF NEUROSCIENCE
- The mechanisms of kinesin motor motility: lessons from the monomeric motor KIF1A
- (2009) Nobutaka Hirokawa et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Effects of prepubertal gonadectomy on a male-typical behavior and excitatory synaptic transmission in the amygdala
- (2008) Bradley M. Cooke et al. Developmental Neurobiology
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