The synapsins: key actors of synapse function and plasticity
The synapsins are a family of neuronal phosphoproteins evolutionarily conserved in
invertebrate and vertebrate organisms. Their best-characterised function is to modulate …
invertebrate and vertebrate organisms. Their best-characterised function is to modulate …
Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms
AK Srivastava, CE Schwartz - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …
developmental disorders present in humans. Combined, they affect between 3 and 5% of …
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
A Fassio, L Patry, S Congia, F Onofri… - Human molecular …, 2011 - academic.oup.com
Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy
have been identified, many of which are implicated in synaptic function. Here we report a …
have been identified, many of which are implicated in synaptic function. Here we report a …
PRRT2 is a key component of the Ca2+-dependent neurotransmitter release machinery
Heterozygous mutations in proline-rich transmembrane protein 2 (PRRT2) underlie a group
of paroxysmal disorders, including epilepsy, kinesigenic dyskinesia, and migraine. Most of …
of paroxysmal disorders, including epilepsy, kinesigenic dyskinesia, and migraine. Most of …
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity
Abstract See Lerche (doi: 10.1093/brain/awy073) for a scientific commentary on this article.
Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous …
Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous …
Regulators of synaptic transmission: roles in the pathogenesis and treatment of epilepsy
Synaptic transmission is the communication between a presynaptic and a postsynaptic
neuron, and the subsequent processing of the signal. These processes are complex and …
neuron, and the subsequent processing of the signal. These processes are complex and …
Epilepsy as a neurodevelopmental disorder
Y Bozzi, S Casarosa, M Caleo - Frontiers in psychiatry, 2012 - frontiersin.org
Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group
of syndromes with different etiologies. Epileptogenesis refers to the process whereby the …
of syndromes with different etiologies. Epileptogenesis refers to the process whereby the …
Linking α-synuclein-induced synaptopathy and neural network dysfunction in early Parkinson's disease
The prodromal phase of Parkinson's disease is characterized by aggregation of the
misfolded pathogenic protein α-synuclein in select neural centres, co-occurring with non …
misfolded pathogenic protein α-synuclein in select neural centres, co-occurring with non …
Synaptic function is modulated by LRRK2 and glutamate release is increased in cortical neurons of G2019S LRRK2 knock-in mice
DA Beccano-Kelly, N Kuhlmann, I Tatarnikov… - Frontiers in cellular …, 2014 - frontiersin.org
Mutations in Leucine-Rich Repeat Kinase-2 (LRRK2) result in familial Parkinson's disease
and the G2019S mutation alone accounts for up to 30% in some ethnicities. Despite this, the …
and the G2019S mutation alone accounts for up to 30% in some ethnicities. Despite this, the …
[HTML][HTML] Autism-related behavioral abnormalities in synapsin knockout mice
Several synaptic genes predisposing to autism-spectrum disorder (ASD) have been
identified. Nonsense and missense mutations in the SYN1 gene encoding for Synapsin I …
identified. Nonsense and missense mutations in the SYN1 gene encoding for Synapsin I …