Cargando…

An activator of voltage-gated K(+) channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1

Loss-of-function mutations in the KCNA1(Kv1.1) gene cause episodic ataxia type 1 (EA1), a neurological disease characterized by cerebellar dysfunction, ataxic attacks, persistent myokymia with painful cramps in skeletal muscles, and epilepsy. Precision medicine for EA1 treatment is currently unfeasi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Servettini, Ilenio, Talani, Giuseppe, Megaro, Alfredo, Setzu, Maria Dolores, Biggio, Francesca, Briffa, Michelle, Guglielmi, Luca, Savalli, Nicoletta, Binda, Francesca, Delicata, Francis, Bru–Mercier, Gilles, Vassallo, Neville, Maglione, Vittorio, Cauchi, Ruben J., Di Pardo, Alba, Collu, Maria, Imbrici, Paola, Catacuzzeno, Luigi, D’Adamo, Maria Cristina, Olcese, Riccardo, Pessia, Mauro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Academy of Sciences 2023
Materias:	Biological Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401004/ https://www.ncbi.nlm.nih.gov/pubmed/37487086 http://dx.doi.org/10.1073/pnas.2207978120

Ejemplares similares

Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder
por: Guglielmi, Luca, et al.
Publicado: (2015)

New insights into the pathogenesis and therapeutics of episodic ataxia type 1
por: D’Adamo, Maria Cristina, et al.
Publicado: (2015)

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
por: D'Adamo, Maria C., et al.
Publicado: (2015)

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
por: Sicca, Federico, et al.
Publicado: (2016)

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype
por: Ambrosini, Elena, et al.
Publicado: (2014)

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches
por: D’Adamo, Maria Cristina, et al.
Publicado: (2020)

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca(2+) Release
por: D’Adamo, Maria Cristina, et al.
Publicado: (2016)

Structure, Gating and Basic Functions of the Ca(2+)-activated K Channel of Intermediate Conductance
por: Sforna, Luigi, et al.
Publicado: (2018)

Locus Coeruleus Neurons’ Firing Pattern Is Regulated by ERG Voltage-Gated K(+) Channels
por: Hasan, Sonia, et al.
Publicado: (2022)

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
por: Karalok, Zeynep S., et al.
Publicado: (2018)

Reconciling the discrepancies on the involvement of large-conductance Ca(2+)-activated K channels in glioblastoma cell migration
por: Catacuzzeno, Luigi, et al.
Publicado: (2015)

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy
por: D'Adamo, Maria Cristina, et al.
Publicado: (2013)

Erratum: K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy
por: D'Adamo, Maria C., et al.
Publicado: (2014)

Melatonin: From Neurobiology to Treatment
por: Biggio, Giovanni, et al.
Publicado: (2021)

Involvement of the Cannabinoid CB1 Receptor in Modulation of Dopamine Output in the Prefrontal Cortex Associated with Food Restriction in Rats
por: Dazzi, Laura, et al.
Publicado: (2014)

Enhanced Sensitivity to Ethanol-Induced Inhibition of LTP in CA1 Pyramidal Neurons of Socially Isolated C57BL/6J Mice: Role of Neurosteroids
por: Talani, Giuseppe, et al.
Publicado: (2011)

Effects of memantine on mania‐like phenotypes exhibited by Drosophila Shaker mutants
por: Mocci, Ignazia, et al.
Publicado: (2023)

Kcnj16 (Kir5.1) Gene Ablation Causes Subfertility and Increases the Prevalence of Morphologically Abnormal Spermatozoa
por: Poli, Giulia, et al.
Publicado: (2021)

Isolation Rearing Reduces Neuronal Excitability in Dentate Gyrus Granule Cells of Adolescent C57BL/6J Mice: Role of GABAergic Tonic Currents and Neurosteroids
por: Talani, Giuseppe, et al.
Publicado: (2016)

The role of ion channels in the hypoxia-induced aggressiveness of glioblastoma
por: Sforna, Luigi, et al.
Publicado: (2015)

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature
por: Brunetti, Orazio, et al.
Publicado: (2012)

Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
por: Hasan, Sonia, et al.
Publicado: (2018)

Increased Voluntary Alcohol Consumption in Mice Lacking GABA(B(1)) Is Associated With Functional Changes in Hippocampal GABA(A) Receptors
por: Floris, Gabriele, et al.
Publicado: (2022)

ClC-1 chloride channels: state-of-the-art research and future challenges
por: Imbrici, Paola, et al.
Publicado: (2015)

Voluntary Ethanol Consumption Induced by Social Isolation Reverses the Increase of α(4)/δ GABA(A) Receptor Gene Expression and Function in the Hippocampus of C57BL/6J Mice
por: Sanna, Enrico, et al.
Publicado: (2011)

The α(2)δ-1 subunit remodels Ca(V)1.2 voltage sensors and allows Ca(2+) influx at physiological membrane potentials
por: Savalli, Nicoletta, et al.
Publicado: (2016)

The CaMKII/MLC1 Axis Confers Ca(2+)-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes
por: Brignone, Maria Stefania, et al.
Publicado: (2022)

Plasticity of GABAA Receptors during Pregnancy and Postpartum Period: From Gene to Function
por: Licheri, Valentina, et al.
Publicado: (2015)

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
por: Hasan, Sonia, et al.
Publicado: (2017)

The distinct role of the four voltage sensors of the skeletal Ca(V)1.1 channel in voltage-dependent activation
por: Savalli, Nicoletta, et al.
Publicado: (2021)

Improvements of Motor Performances in the Drosophila LRRK2 Loss-of-Function Model of Parkinson’s Disease: Effects of Dialyzed Leucocyte Extracts from Human Serum
por: Diana, Andrea, et al.
Publicado: (2020)

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia
por: Dinoi, Giorgia, et al.
Publicado: (2022)

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
por: Imbrici, Paola, et al.
Publicado: (2021)

Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond
por: Conte, Elena, et al.
Publicado: (2021)

Standardized phytotherapic extracts rescue anomalous locomotion and electrophysiological responses of TDP-43 Drosophila melanogaster model of ALS
por: Maccioni, Riccardo, et al.
Publicado: (2018)

Kv1.3 activity perturbs the homeostatic properties of astrocytes in glioma
por: Grimaldi, Alfonso, et al.
Publicado: (2018)

Functional and Morphological Correlates in the Drosophila LRRK2 loss-of-function Model of Parkinson’s Disease: Drug Effects of Withania somnifera (Dunal) Administration
por: De Rose, Francescaelena, et al.
Publicado: (2016)

Modes of Operation of the BK(Ca) Channel β(2) Subunit
por: Savalli, Nicoletta, et al.
Publicado: (2007)

SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo
por: Farrugia Wismayer, Maia, et al.
Publicado: (2021)

Role of KCa3.1 Channels in Modulating Ca(2+) Oscillations during Glioblastoma Cell Migration and Invasion
por: Catacuzzeno, Luigi, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_96mvv3gdb2i4s088k26d5oi3cq