Calcium channels, synaptic plasticity, and neuropsychiatric disease
E Nanou, WA Catterall - Neuron, 2018 - cell.com
Voltage-gated calcium channels couple depolarization of the cell-surface membrane to entry
of calcium, which triggers secretion, contraction, neurotransmission, gene expression, and …
of calcium, which triggers secretion, contraction, neurotransmission, gene expression, and …
Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
fueled remarkable advances in our understanding of its potential neurobiological …
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
Autism genetics: opportunities and challenges for clinical translation
JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …
risk effects are highly variable, and they are frequently related to other conditions besides …
Genomic patterns of de novo mutation in simplex autism
To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier… - PLoS …, 2014 - journals.plos.org
SHANK genes code for scaffold proteins located at the post-synaptic density of
glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the …
glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the …
De novo gene disruptions in children on the autistic spectrum
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Genetic architecture in autism spectrum disorder
B Devlin, SW Scherer - Current opinion in genetics & development, 2012 - Elsevier
Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social
interaction and communication, and by restricted and repetitive behaviors. Family studies …
interaction and communication, and by restricted and repetitive behaviors. Family studies …
Modeling autism by SHANK gene mutations in mice
Y Jiang, MD Ehlers - Neuron, 2013 - cell.com
Shank family proteins (Shank1, Shank2, and Shank3) are synaptic scaffolding proteins that
organize an extensive protein complex at the postsynaptic density (PSD) of excitatory …
organize an extensive protein complex at the postsynaptic density (PSD) of excitatory …