Bridging Autism Spectrum Disorders and Schizophrenia through inflammation and biomarkers-pre-clinical and clinical investigations
J Prata, SG Santos, MI Almeida, R Coelho… - Journal of …, 2017 - Springer
In recent years, evidence supporting a link between inflammation and neuropsychiatric
disorders has been mounting. Autism spectrum disorders (ASD) and schizophrenia share …
disorders has been mounting. Autism spectrum disorders (ASD) and schizophrenia share …
Canonical and non-canonical reelin signaling
HH Bock, P May - Frontiers in cellular neuroscience, 2016 - frontiersin.org
Reelin is a large secreted glycoprotein that is essential for correct neuronal positioning
during neurodevelopment and is important for synaptic plasticity in the mature brain …
during neurodevelopment and is important for synaptic plasticity in the mature brain …
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits
In addition to cognitive impairments, neurodevelopmental disorders often result in sensory
processing deficits. However, the biological mechanisms that underlie impaired sensory …
processing deficits. However, the biological mechanisms that underlie impaired sensory …
SYNGAP1: mind the gap
A cardinal feature of early stages of human brain development centers on the sensory,
cognitive, and emotional experiences that shape neuronal-circuit formation and refinement …
cognitive, and emotional experiences that shape neuronal-circuit formation and refinement …
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy
W Chen, ZL Cai, ES Chao, H Chen, CM Longley… - Elife, 2020 - elifesciences.org
Mutations in genes encoding synaptic proteins cause many neurodevelopmental disorders,
with the majority affecting postsynaptic apparatuses and much fewer in presynaptic proteins …
with the majority affecting postsynaptic apparatuses and much fewer in presynaptic proteins …
Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour
Normal brain development is highly dependent on the timely coordinated actions of genetic
and environmental processes, and an aberration can lead to neurodevelopmental disorders …
and environmental processes, and an aberration can lead to neurodevelopmental disorders …
Altered cortical dynamics and cognitive function upon haploinsufficiency of the autism-linked excitatory synaptic suppressor MDGA2
Mutations in a synaptic organizing pathway contribute to autism. Autism-associated
mutations in MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2) are …
mutations in MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2) are …
Current perspectives in autism spectrum disorder: from genes to therapy
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with
high heritability and both phenotypic and genetic heterogeneity. To date, mutations in …
high heritability and both phenotypic and genetic heterogeneity. To date, mutations in …
The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators
M Weldon, M Kilinc, J Lloyd Holder… - Journal of …, 2018 - Springer
Background Pathologic mutations in SYNGAP1 cause a genetically defined form of
intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently …
intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently …
The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway
Mutation or deletion of the deubiquitinase USP7 causes Hao-Fountain syndrome
(HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive …
(HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive …