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List of works by Anna Fassio

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

scientific article published in December 2017

CGP 52432: a novel potent and selective GABAB autoreceptor antagonist in rat cerebral cortex.

scientific article published in June 1993

Characterization of the GABA autoreceptor in human neocortex as a pharmacological subtype of the GABAB receptor

scientific article published on 01 October 1994

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations

scientific article published on 19 August 2016

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

scientific article published on 01 May 2019

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

scientific article

Entrapping of impermeant probes of different size into nonpermeabilized synaptosomes as a method to study presynaptic mechanisms

scientific article

Evidence for calcium-dependent vesicular transmitter release insensitive to tetanus toxin and botulinum toxin type F.

scientific article published in March 1999

Fibroblasts from FAD-linked presenilin 1 mutations display a normal unfolded protein response but overproduce Abeta42 in response to tunicamycin

scientific article published in March 2004

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

scientific article

Functional role of ATP binding to synapsin I in synaptic vesicle trafficking and release dynamics.

scientific article published in October 2014

GABA induces norepinephrine exocytosis from hippocampal noradrenergic axon terminals by a dual mechanism involving different voltage-sensitive calcium channels

scientific article

GABAB receptors as potential targets for drugs able to prevent excessive excitatory amino acid transmission in the spinal cord

article

Glutathione limits Ero1-dependent oxidation in the endoplasmic reticulum.

scientific article

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

scientific article published on 20 May 2014

Increased presynaptic protein kinase C activity and glutamate release in rats with a prenatally induced hippocampal lesion.

scientific article published on March 1997

Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins

scientific article

Lack of synapsin I reduces the readily releasable pool of synaptic vesicles at central inhibitory synapses

scientific article published on 01 December 2007

Manipulation of oxidative protein folding and PDI redox state in mammalian cells ⬇️

scientific article published on November 15, 2001

Molecular Machines Determining the Fate of Endocytosed Synaptic Vesicles in Nerve Terminals

scientific article

Neuronal hyperactivity causes Na+/H+ exchanger-induced extracellular acidification at active synapses.

scientific article published on 2 March 2017

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

scientific article published on 12 April 2013

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

scientific article

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

scientific article published on 15 March 2018

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

scientific article published in May 2014

REST/NRSF-mediated intrinsic homeostasis protects neuronal networks from hyperexcitability.

scientific article published on 22 October 2013

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

scientific article published on 25 March 2011

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

scientific article published on 15 August 2013

Synapsin I senses membrane curvature by an amphipathic lipid packing sensor motif.

scientific article

Synapsins: from synapse to network hyperexcitability and epilepsy

scientific article published on June 2011

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

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

scientific article published on 11 March 2019

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

scientific journal article

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

scientific article

The CXXCXXC motif determines the folding, structure and stability of human Ero1-Lalpha

scientific article

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

scientific article published on 01 February 2019

The highly conserved synapsin domain E mediates synapsin dimerization and phospholipid vesicle clustering

scientific article

The sensitivity of catecholamine release to botulinum toxin C1 and E suggests selective targeting of vesicles set into the readily releasable pool

scientific article published in April 2003

The synapsin domain E accelerates the exoendocytotic cycle of synaptic vesicles in cerebellar Purkinje cells

scientific article published in October 2006

Tyrosine phosphorylation of synapsin I by Src regulates synaptic-vesicle trafficking

scientific article

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