![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder
Intellectual disability (ID) and autism spectrum disorder (ASD) are neurodevelopmental disorders that have become a primary clinical and social concern, with a prevalence of 2–3% in the population. Neuronal fu...
-
Article
Pharmacological intervention in young adolescents rescues synaptic physiology and behavioural deficits in Syngap1+/− mice
Haploinsufficiency in SYNGAP1 is implicated in intellectual disability (ID) and autism spectrum disorder (ASD) and affects the maturation of dendritic spines. The abnormal spine development has been suggested to ...
-
Article
Correction to: Identification of an individual with a SYNGAP1 pathogenic mutation in India
-
Article
Open AccessSpatiotemporal analysis of soluble aggregates and autophagy markers in the R6/2 mouse model
Maintenance of cellular proteostasis is vital for post-mitotic cells like neurons to sustain normal physiological function and homeostasis, defects in which are established hallmarks of several age-related con...
-
Article
Identification of an individual with a SYNGAP1 pathogenic mutation in India
Exome sequencing is a prominent tool to identify novel and deleterious mutations which could be non-sense, frameshift, and canonical splice-site mutations in a specific gene. De novo mutations in SYNGAP1, which c...
-
Article
Neurodegenerative diseases: model organisms, pathology and autophagy
A proteostasis view of neurodegeneration (ND) identifies protein aggregation as a leading causative reason for damage seen at the cellular and organ levels. While investigative therapies that aim at dissolving...
-
Article
Metabotropic action of postsynaptic kainate receptors triggers hippocampal long-term potentiation
The authors show that activation of GluK2-containing kainate receptors on hippocampal neurons, by either agonist application or high-frequency synaptic stimulation, leads to a new form of NMDA-receptor-indepen...