Autism spectrum disorder: neuropathology and animal models

M Varghese, N Keshav, S Jacot-Descombes… - Acta …, 2017 - Springer
Autism spectrum disorder (ASD) has a major impact on the development and social
integration of affected individuals and is the most heritable of psychiatric disorders. An …

Specialized subpopulations of deep-layer pyramidal neurons in the neocortex: bridging cellular properties to functional consequences

A Baker, B Kalmbach, M Morishima, J Kim… - Journal of …, 2018 - Soc Neuroscience
Neocortical pyramidal neurons with somata in layers 5 and 6 are among the most visually
striking and enigmatic neurons in the brain. These deep-layer pyramidal neurons (DLPNs) …

[HTML][HTML] The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in the prefrontal cortex

PWE Spratt, R Ben-Shalom, CM Keeshen, KJ Burke… - Neuron, 2019 - cell.com
Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of
the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the …

Neocortical neurogenesis and the etiology of autism spectrum disorder

A Packer - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
Researchers have now identified many highly penetrant genetic risk factors for autism
spectrum disorder (ASD). Some of these genes encode synaptic proteins, lending support to …

[HTML][HTML] BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription

C Dias, SB Estruch, SA Graham, J McRae… - The American Journal of …, 2016 - cell.com
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity.
Next-generation sequencing of large cohorts has identified an increasing number of genes …

[HTML][HTML] Bcl11 transcription factors regulate cortical development and function

R Simon, C Wiegreffe, S Britsch - Frontiers in molecular neuroscience, 2020 - frontiersin.org
Transcription factors regulate multiple processes during brain development and in the adult
brain, from brain patterning to differentiation and maturation of highly specialized neurons as …

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders

SB Estruch, SA Graham, M Quevedo… - Human molecular …, 2018 - academic.oup.com
FOXP transcription factors play important roles in neurodevelopment, but little is known
about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate …

BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases

J Yin, X Xie, Y Ye, L Wang, F Che - Bioscience reports, 2019 - portlandpress.com
Transcription factor B-cell lymphoma/leukemia 11A (BCL11A) gene encodes a zinc-finger
protein that is predominantly expressed in brain and hematopoietic tissue. BCL11A …

[HTML][HTML] Ctip1 regulates the balance between specification of distinct projection neuron subtypes in deep cortical layers

MB Woodworth, LC Greig, KX Liu, GC Ippolito… - Cell reports, 2016 - cell.com
The molecular linkage between neocortical projection neuron subtype and area
development, which enables the establishment of functional areas by projection neuron …

[HTML][HTML] mSWI/SNF (BAF) complexes are indispensable for the neurogenesis and development of embryonic olfactory epithelium

C Bachmann, H Nguyen, J Rosenbusch, L Pham… - PLoS …, 2016 - journals.plos.org
Neurogenesis is a key developmental event through which neurons are generated from
neural stem/progenitor cells. Chromatin remodeling BAF (mSWI/SNF) complexes have been …