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Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing

Neurobiology of disease, 2022-10, Vol.173, p.105856-105856, Article 105856

2022

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PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

Brain (London, England : 1878), 2018-04, Vol.141 (4), p.1000-1016

2018

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Lack of Synapsin I Reduces the Readily Releasable Pool of Synaptic Vesicles at Central Inhibitory Synapses

The Journal of neuroscience, 2007-12, Vol.27 (49), p.13520-13531

2007

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PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery

Cell reports (Cambridge), 2016-04, Vol.15 (1), p.117-131

2016

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SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Human molecular genetics, 2011-06, Vol.20 (12), p.2297-2307

2011

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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain (London, England : 1878), 2022-08, Vol.145 (8), p.2687-2703

2022

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Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

Frontiers in cellular neuroscience, 2020-03, Vol.14, p.39-39

2020

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TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

Proceedings of the National Academy of Sciences - PNAS, 2014-02, Vol.111 (6), p.2337-2342

2014

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Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Annals of neurology, 2014-08, Vol.76 (2), p.206-212

2014

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Phosphorylation of synapsin I by cyclin-dependent kinase-5 sets the ratio between the resting and recycling pools of synaptic vesicles at hippocampal synapses

The Journal of neuroscience, 2014-05, Vol.34 (21), p.7266-7280

2014

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TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons

Cell death and differentiation, 2019-11, Vol.26 (11), p.2464-2478

2019

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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Human molecular genetics, 2019-02, Vol.28 (4), p.584-597

2019

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Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse

eLife, 2016-01, Vol.5

2016

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SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

Human molecular genetics, 2014-01, Vol.23 (1), p.90-103

2014

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An interaction between PRRT2 and Na + /K + ATPase contributes to the control of neuronal excitability

Cell death & disease, 2021-03, Vol.12 (4), p.292-292, Article 292

2021

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TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American journal of human genetics, 2010-09, Vol.87 (3), p.365-370

2010

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Glutathione Limits Ero1-dependent Oxidation in the Endoplasmic Reticulum

The Journal of biological chemistry, 2004-07, Vol.279 (31), p.32667-32673

2004

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APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development

Cell reports (Cambridge), 2017-12, Vol.21 (12), p.3596-3611

2017

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Atmospheres: Feeling Architecture by Emotions

Ambiances (En ligne), 2019-12, Vol.5

2019

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PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery

Cell reports (Cambridge), 2016-04, Vol.15 (1), p.117-131

2016

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Formation, isomerisation and reduction of disulphide bonds during protein quality control in the endoplasmic reticulum

Histochemistry and cell biology, 2002-02, Vol.117 (2), p.151-157

2002

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On the way back from 3D to 2D: Chitosan promotes adhesion and development of neuronal networks onto culture supports

Carbohydrate polymers, 2022-12, Vol.297, p.120049-120049, Article 120049

2022

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Lesional and non-lesional epilepsies: A blurring genetic boundary

European journal of paediatric neurology, 2020-01, Vol.24, p.24-29

2020

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A micropatterned thermoplasmonic substrate for neuromodulation of in vitro neuronal networks

Acta biomaterialia, 2023-03, Vol.158, p.281-291

2023

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Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons

Cerebral cortex (New York, N.Y. 1991), 2019-05, Vol.29 (5), p.2010-2033

2019

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Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

Lack of Synapsin I Reduces the Readily Releasable Pool of Synaptic Vesicles at Central Inhibitory Synapses

PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Phosphorylation of synapsin I by cyclin-dependent kinase-5 sets the ratio between the resting and recycling pools of synaptic vesicles at hippocampal synapses

TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

An interaction between PRRT2 and Na + /K + ATPase contributes to the control of neuronal excitability

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Glutathione Limits Ero1-dependent Oxidation in the Endoplasmic Reticulum

APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development

Atmospheres: Feeling Architecture by Emotions

PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery

Formation, isomerisation and reduction of disulphide bonds during protein quality control in the endoplasmic reticulum

On the way back from 3D to 2D: Chitosan promotes adhesion and development of neuronal networks onto culture supports

Lesional and non-lesional epilepsies: A blurring genetic boundary

A micropatterned thermoplasmonic substrate for neuromodulation of in vitro neuronal networks

Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons

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