Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome
SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of
chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an …
chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an …
Sex differences and hormonal regulation of metabotropic glutamate receptor synaptic plasticity
Striking sex differences exist in presentation and incidence of several psychiatric disorders.
For example, major depressive disorder is more prevalent in women than men, and women …
For example, major depressive disorder is more prevalent in women than men, and women …
mGluR5 in hippocampal CA1 pyramidal neurons mediates stress-induced anxiety-like behavior
X Li, ZJ Du, JN Xu, ZM Liang, S Lin, H Chen… - …, 2023 - nature.com
Pharmacological manipulation of mGluR5 has showed that mGluR5 is implicated in the
pathophysiology of anxiety and mGluR5 has been proposed as a potential drug target for …
pathophysiology of anxiety and mGluR5 has been proposed as a potential drug target for …
Glutamatergic synapse in autism: a complex story for a complex disorder
L Galineau, N Arlicot, AC Dupont, F Briend… - Molecular …, 2023 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose
pathophysiological mechanisms are still unclear. Hypotheses suggest a role for glutamate …
pathophysiological mechanisms are still unclear. Hypotheses suggest a role for glutamate …
Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder
Background Unravelling the relationships between candidate genes and autism spectrum
disorder (ASD) phenotypes remains an outstanding challenge. Endophenotypes, defined as …
disorder (ASD) phenotypes remains an outstanding challenge. Endophenotypes, defined as …
Group I and group II metabotropic glutamate receptors are upregulated in the synapses of infant rats prenatally exposed to valproic acid
S D'Antoni, S Schiavi, V Buzzelli, S Giuffrida, A Feo… - …, 2023 - Springer
Rationale Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized
by impaired social interaction and restricted/stereotyped behavior. Prenatal exposure to …
by impaired social interaction and restricted/stereotyped behavior. Prenatal exposure to …
A synaptic molecular dependency network in knockdown of autism-and schizophrenia-associated genes revealed by multiplexed imaging
The complex functions of neuronal synapses depend on their tightly interconnected protein
network, and their dysregulation is implicated in the pathogenesis of autism spectrum …
network, and their dysregulation is implicated in the pathogenesis of autism spectrum …
Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium
V Ioannidis, R Pandey, HF Bauer, M Schön… - Molecular …, 2023 - nature.com
The Shank3 gene encodes the major postsynaptic scaffolding protein SHANK3. Its mutation
causes a syndromic form of autism spectrum disorder (ASD): Phelan-McDermid Syndrome …
causes a syndromic form of autism spectrum disorder (ASD): Phelan-McDermid Syndrome …
Clustering of CaV1.3 L‐type calcium channels by Shank3
Q Yang, TL Perfitt, J Quay, L Hu… - Journal of …, 2023 - Wiley Online Library
Clustering of L‐type voltage‐gated Ca2+ channels (LTCCs) in the plasma membrane is
increasingly implicated in creating highly localized Ca2+ signaling nanodomains. For …
increasingly implicated in creating highly localized Ca2+ signaling nanodomains. For …
mGluR5 PAMs rescue cortical and behavioural defects in a mouse model of CDKL5 deficiency disorder
A Gurgone, R Pizzo, A Raspanti, G Chiantia… - …, 2023 - nature.com
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a devastating
rare neurodevelopmental disease without a cure, caused by mutations of the …
rare neurodevelopmental disease without a cure, caused by mutations of the …