Cargando…

Timothy Syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

L-type voltage gated calcium channels (LTCs) play an important role in neuronal development by promoting dendritic growth and arborization(1–3). A point mutation in Ca(V)1.2 causes Timothy Syndrome (TS)(4), a neurodevelopmental disorder associated with autism spectrum disorders (ASD). We report that...

Descripción completa

Detalles Bibliográficos
Autores principales:	Krey, Jocelyn F., Pasca, Sergiu P., Shcheglovitov, Aleksandr, Yazawa, Masayuki, Schwemberger, Rachel, Rasmusson, Randall, Dolmetsch, Ricardo E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2013
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568452/ https://www.ncbi.nlm.nih.gov/pubmed/23313911 http://dx.doi.org/10.1038/nn.3307

Ejemplares similares

Using iPS cell-derived neurons to uncover cellular phenotypes associated with Timothy Syndrome
por: Paşca, Sergiu P., et al.
Publicado: (2011)

Using iPS cells to investigate cardiac phenotypes in patients with Timothy Syndrome
por: Yazawa, Masayuki, et al.
Publicado: (2011)

Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome
por: Tian, Yuan, et al.
Publicado: (2014)

Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome
por: Panagiotakos, Georgia, et al.
Publicado: (2019)

Inhibition of CDK5 Alleviates the Cardiac Phenotypes in Timothy Syndrome
por: Song, LouJin, et al.
Publicado: (2017)

Professor Timothy McElwain
por: Selby, Peter
Publicado: (1991)

Death of Professor Timothy Childs
Publicado: (1865)

I-12 Timothy Syndrome and Cardiomyopathy
por: Bloise, R.
Publicado: (2011)

Update on the Molecular Genetics of Timothy Syndrome
por: Bauer, Rosemary, et al.
Publicado: (2021)

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation
por: Dick, Ivy E., et al.
Publicado: (2016)

Sensitization to timothy grass pollen allergenic molecules in children
por: Scaparrotta, Alessandra, et al.
Publicado: (2013)

Sensitization Profiles of Timothy Grass Pollen in Northern China
por: Xu, Yingyang, et al.
Publicado: (2021)

Overview of leadership and research: Timothy C Fabian, MD
por: Croce, Martin
Publicado: (2023)

Contribution by Dr Timothy C Fabian: liver trauma
por: Malhotra, Ajai K
Publicado: (2023)

Lipid Mediators From Timothy Grass Pollen Contribute to the Effector Phase of Allergy and Prime Dendritic Cells for Glycolipid Presentation
por: González Roldán, Nestor, et al.
Publicado: (2019)

A mouse model of Timothy syndrome exhibits altered social competitive dominance and inhibitory neuron development
por: Horigane, Shin‐ichiro, et al.
Publicado: (2020)

Calcineurin Controls Voltage-Dependent-Inactivation (VDI) of the Normal and Timothy Cardiac Channels
por: Cohen-Kutner, Moshe, et al.
Publicado: (2012)

Secreted Reporter Assay Enables Quantitative and Longitudinal Monitoring of Neuronal Activity
por: Santos, Ana C., et al.
Publicado: (2021)

"The birth of the hospital in the Byzantine Empire". By Timothy S. Miller. Essay review.
por: Nutton, V
Publicado: (1986)

Assessment of genetic diversity in Nordic timothy (Phleum pratense L.)
por: Tanhuanpää, Pirjo, et al.
Publicado: (2016)

Technical and clinical validation of the Allergen BioCube(®) for timothy grass
por: Angjeli, Endri, et al.
Publicado: (2017)

A Promoter in the Coding Region of the Calcium Channel Gene CACNA1C Generates the Transcription Factor CCAT
por: Gomez-Ospina, Natalia, et al.
Publicado: (2013)

Imaging neuronal migration and network activity in human forebrain assembloids
por: Birey, Fikri, et al.
Publicado: (2022)

Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome
por: Einhorn, Nathan R., et al.
Publicado: (2023)

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics
por: Jiang, Congshan, et al.
Publicado: (2023)

Calcium Imaging of Cortical Neurons using Fura-2 AM
por: Barreto-Chang, Odmara L, et al.
Publicado: (2009)

Critical appraisal of Timothy grass pollen extract GRAZAX(®) in the management of allergic rhinitis
por: Scaparrotta, Alessandra, et al.
Publicado: (2015)

Ten Years HIV Free: An Interview with “The Berlin Patient,” Timothy Ray Brown
por: Lederman, Michael M., et al.
Publicado: (2017)

iPSC toolbox for understanding and repairing disrupted brain circuits in autism
por: Chiola, Simone, et al.
Publicado: (2022)

Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review
por: Borbás, János, et al.
Publicado: (2022)

A rare association of long QT syndrome and syndactyly: Timothy Syndrome (LQT 8)
por: Krause, U., et al.
Publicado: (2011)

The efficacy and safety of the Timothy grass allergy sublingual immunotherapy tablet in Canadian adults and children
por: Hébert, Jacques, et al.
Publicado: (2014)

Atomic Mechanisms of Timothy Syndrome-Associated Mutations in Calcium Channel Cav1.2
por: Korkosh, Vyacheslav S., et al.
Publicado: (2019)

A C. elegans model for the rare human channelopathy, Timothy syndrome type 1
por: Lagoy, Ross, et al.
Publicado: (2018)

Phenotypic Diversity in Domesticated and Wild Timothy Grass, and Closely Related Species for Forage Breeding
por: Rahimi, Yousef, et al.
Publicado: (2023)

Axonal and dendritic localization of mRNAs for glycogen-metabolizing enzymes in cultured rodent neurons
por: Pfeiffer-Guglielmi, Brigitte, et al.
Publicado: (2014)

Timothy Mutation Disrupts the Link between Activation and Inactivation in Ca(V)1.2 Protein
por: Depil, Katrin, et al.
Publicado: (2011)

Timothy mutation affects tightly sealing point of Ca(V)1.2 activation gate
por: Depil, Katrin, et al.
Publicado: (2011)

The impact of Timothy's Law on hospitalization among patients with mental health conditions in New York State
por: Li, Mingfei, et al.
Publicado: (2022)

Richard Hynes, Erkki Ruoslahti, and Timothy Springer receive Lasker prize for pioneering work on integrins
por: Munshi, Hidayatullah G.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_mmk1p3vf2h2l0p3ibt0p18ntd7